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2024-03-29 03:12:58, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_000092              10341 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.
ACCESSION   NM_000092
VERSION     NM_000092.4  GI:116256355
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10341)
  AUTHORS   Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
            Vierkant,R.A. and Poland,G.A.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum. Genet. 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   2  (bases 1 to 10341)
  AUTHORS   Meguro,A., Ideta,H., Ota,M., Ito,N., Ideta,R., Yonemoto,J.,
            Takeuchi,M., Uemoto,R., Nishide,T., Iijima,Y., Kawagoe,T.,
            Okada,E., Shiota,T., Hagihara,Y., Oka,A., Inoko,H. and Mizuki,N.
  TITLE     Common variants in the COL4A4 gene confer susceptibility to lattice
            degeneration of the retina
  JOURNAL   PLoS ONE 7 (6), E39300 (2012)
   PUBMED   22723992
  REMARK    GeneRIF: Our findings suggest that variants in the COL4A4 gene may
            contribute to the development of lattice degeneration of the
            retina.
REFERENCE   3  (bases 1 to 10341)
  AUTHORS   Romero,R., Friel,L.A., Velez Edwards,D.R., Kusanovic,J.P.,
            Hassan,S.S., Mazaki-Tovi,S., Vaisbuch,E., Kim,C.J., Erez,O.,
            Chaiworapongsa,T., Pearce,B.D., Bartlett,J., Salisbury,B.A.,
            Anant,M.K., Vovis,G.F., Lee,M.S., Gomez,R., Behnke,E., Oyarzun,E.,
            Tromp,G., Williams,S.M. and Menon,R.
  TITLE     A genetic association study of maternal and fetal candidate genes
            that predispose to preterm prelabor rupture of membranes (PROM)
  JOURNAL   Am. J. Obstet. Gynecol. 203 (4), 361 (2010)
   PUBMED   20673868
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 10341)
  AUTHORS   Romero,R., Velez Edwards,D.R., Kusanovic,J.P., Hassan,S.S.,
            Mazaki-Tovi,S., Vaisbuch,E., Kim,C.J., Chaiworapongsa,T.,
            Pearce,B.D., Friel,L.A., Bartlett,J., Anant,M.K., Salisbury,B.A.,
            Vovis,G.F., Lee,M.S., Gomez,R., Behnke,E., Oyarzun,E., Tromp,G.,
            Williams,S.M. and Menon,R.
  TITLE     Identification of fetal and maternal single nucleotide
            polymorphisms in candidate genes that predispose to spontaneous
            preterm labor with intact membranes
  JOURNAL   Am. J. Obstet. Gynecol. 202 (5), 431 (2010)
   PUBMED   20452482
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 10341)
  AUTHORS   Stabuc-Silih,M., Strazisar,M., Ravnik-Glavac,M., Hawlina,M. and
            Glavac,D.
  TITLE     Genetics and clinical characteristics of keratoconus
  JOURNAL   Acta Dermatovenerol Alp Panonica Adriat 19 (2), 3-10 (2010)
   PUBMED   20664914
  REMARK    GeneRIF: The absence of pathogenic mutations in COL4A4 gene in our
            large number of unrelated keratoconus patients indicates that other
            genetic factors are involved in the development of this disorder
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 10341)
  AUTHORS   Kamagata,Y., Mattei,M.G. and Ninomiya,Y.
  TITLE     Isolation and sequencing of cDNAs and genomic DNAs encoding the
            alpha 4 chain of basement membrane collagen type IV and assignment
            of the gene to the distal long arm of human chromosome 2
  JOURNAL   J. Biol. Chem. 267 (33), 23753-23758 (1992)
   PUBMED   1429714
REFERENCE   7  (bases 1 to 10341)
  AUTHORS   Mariyama,M., Zheng,K., Yang-Feng,T.L. and Reeders,S.T.
  TITLE     Colocalization of the genes for the alpha 3(IV) and alpha 4(IV)
            chains of type IV collagen to chromosome 2 bands q35-q37
  JOURNAL   Genomics 13 (3), 809-813 (1992)
   PUBMED   1639407
REFERENCE   8  (bases 1 to 10341)
  AUTHORS   Gupta,S., Batchu,R.B. and Datta,K.
  TITLE     Purification, partial characterization of rat kidney hyaluronic
            acid binding protein and its localization on the cell surface
  JOURNAL   Eur. J. Cell Biol. 56 (1), 58-67 (1991)
   PUBMED   1724753
REFERENCE   9  (bases 1 to 10341)
  AUTHORS   Sanes,J.R., Engvall,E., Butkowski,R. and Hunter,D.D.
  TITLE     Molecular heterogeneity of basal laminae: isoforms of laminin and
            collagen IV at the neuromuscular junction and elsewhere
  JOURNAL   J. Cell Biol. 111 (4), 1685-1699 (1990)
   PUBMED   2211832
REFERENCE   10 (bases 1 to 10341)
  AUTHORS   Gunwar,S., Saus,J., Noelken,M.E. and Hudson,B.G.
  TITLE     Glomerular basement membrane. Identification of a fourth chain,
            alpha 4, of type IV collagen
  JOURNAL   J. Biol. Chem. 265 (10), 5466-5469 (1990)
   PUBMED   2318822
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079235.7, X81053.1,
            BX094848.1 and AC073149.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 17, 2006 this sequence version replaced gi:62952498.
            
            Summary: This gene encodes one of the six subunits of type IV
            collagen, the major structural component of basement membranes.
            This particular collagen IV subunit, however, is only found in a
            subset of basement membranes. Like the other members of the type IV
            collagen gene family, this gene is organized in a head-to-head
            conformation with another type IV collagen gene so that each gene
            pair shares a common promoter. Mutations in this gene are
            associated with type II autosomal recessive Alport syndrome
            (hereditary glomerulonephropathy) and with familial benign
            hematuria (thin basement membrane disease). Two transcripts,
            differing only in their transcription start sites, have been
            identified for this gene and, as is common for collagen genes,
            multiple polyadenylation sites are found in the 3' UTR. [provided
            by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X81053.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-553               AC079235.7         135923-136475       c
            554-1748            X81053.1           108-1302
            1749-1753           AC079235.7         71536-71540         c
            1754-2534           X81053.1           1308-2088
            2535-2641           BX094848.1         44-150
            2642-3664           X81053.1           2196-3218
            3665-3804           AC079235.7         22893-23032         c
            3805-4632           X81053.1           3359-4186
            4633-4735           AC073149.5         97503-97605         c
            4736-4860           X81053.1           4290-4414
            4861-4870           AC073149.5         91649-91658         c
            4871-5727           X81053.1           4425-5281
            5728-10341          AC073149.5         72312-76925         c
FEATURES             Location/Qualifiers
     source          1..10341
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35-q37"
     gene            1..10341
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="collagen, type IV, alpha 4"
                     /db_xref="GeneID:1286"
                     /db_xref="HGNC:2206"
                     /db_xref="MIM:120131"
     exon            1..553
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    373
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="alternative transcription initiation site"
     exon            554..725
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    640..642
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="upstream in-frame stop codon"
     variation       653
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2228558"
     CDS             655..5727
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="Collagen IV, alpha-4 polypeptide; collagen of
                     basement membrane, alpha-4 chain; collagen alpha-4(IV)
                     chain"
                     /codon_start=1
                     /product="collagen alpha-4(IV) chain precursor"
                     /protein_id="NP_000083.3"
                     /db_xref="GI:116256356"
                     /db_xref="CCDS:CCDS42828.1"
                     /db_xref="GeneID:1286"
                     /db_xref="HGNC:2206"
                     /db_xref="MIM:120131"
                     /translation="
MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPEKGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGLDGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILGAVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKGQMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGEKGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVTPPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPGEAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGRGPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGLPGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGPPGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHPGVRGPDGLKGQKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLSGSDGHKGRPGTPGTAEIPGPPGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPPGKRGLSGVPGIKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPGLPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPGPPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPGDEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEKGQPGPPGPPGPPGSTGLRGFIGFPGLPGDQGEPGSPGPPGFSGIDGARGPKGNKGDPASHFGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGLRGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPPGPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPPGDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGKDGQKGPVGFPGPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPGLPGAPGMRGPEGAMGLPGMRGPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGYPGGPGPPGPIGDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQEKAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIRPYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPGSCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKISRCQVCVKYS
"
     sig_peptide     655..768
                     /gene="COL4A4"
                     /gene_synonym="CA44"
     mat_peptide     769..5724
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /product="collagen alpha-4(IV) chain"
     misc_feature    769..846
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: 7S domain"
     misc_feature    847..5031
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Triple-helical region"
     misc_feature    934..942
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    1087..1095
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    1219..1227
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    1498..1692
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="Collagen triple helix repeat (20 copies); Region:
                     Collagen; pfam01391"
                     /db_xref="CDD:189968"
     misc_feature    1582..1590
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    2824..2832
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    2956..3129
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="Collagen triple helix repeat (20 copies); Region:
                     Collagen; pfam01391"
                     /db_xref="CDD:189968"
     misc_feature    3007..3015
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    3619..3627
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    4270..4275
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Cleavage, by collagenase (By similarity);
                     propagated from UniProtKB/Swiss-Prot (P53420.3); cleavage
                     site"
     misc_feature    4288..4296
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    5059..5370
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; Region: C4; pfam01413"
                     /db_xref="CDD:144854"
     misc_feature    5371..5718
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; Region: C4; pfam01413"
                     /db_xref="CDD:144854"
     exon            726..768
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            769..846
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            847..981
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            982..1026
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1027..1143
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1144..1212
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1213..1248
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1249..1311
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1312..1347
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1348..1389
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1390..1470
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1471..1524
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1525..1584
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1585..1629
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1630..1683
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1684..1753
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1754..1858
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            1859..2023
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            2024..2113
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       2098
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2229814"
     exon            2114..2277
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            2278..2350
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       2288
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1800516"
     exon            2351..2457
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            2458..2641
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            2642..2710
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            2711..2818
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            2819..3037
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3038..3199
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3200..3370
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3371..3514
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3515..3622
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3623..3804
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       3665
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800517"
     exon            3805..3868
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3869..3943
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            3944..4051
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            4052..4159
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       4140
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2229815"
     exon            4160..4231
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            4232..4360
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       4338
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2229812"
     exon            4361..4471
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            4472..4627
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            4628..4735
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       4633
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2229813"
     variation       4734
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2228556"
     exon            4736..4744
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            4745..4870
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       4860..4861
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800518"
     exon            4871..4987
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            4988..5176
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     exon            5177..5463
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       5202
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2228555"
     exon            5464..10341
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /inference="alignment:Splign:1.39.8"
     variation       5586
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2228557"
     STS             6107..6214
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /standard_name="WI-18252"
                     /db_xref="UniSTS:76632"
     variation       6493
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200045199"
     STS             6552..6903
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /standard_name="WI-7328"
                     /db_xref="UniSTS:59017"
     variation       6568
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11556632"
     STS             7149..7924
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /standard_name="COL4A4_544.2"
                     /db_xref="UniSTS:468040"
     STS             10079..10262
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /standard_name="RH70415"
                     /db_xref="UniSTS:23600"
     STS             10183..10283
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /standard_name="SHGC-33680"
                     /db_xref="UniSTS:61160"
     variation       10329
                     /gene="COL4A4"
                     /gene_synonym="CA44"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1054415"
     polyA_site      10341
                     /gene="COL4A4"
                     /gene_synonym="CA44"
ORIGIN      
aggctttttggttgtggcttcaagggagggaagacgtggctcaggtcccgccctcataccccctccctcccaacttaccaggcagtgtcccttctacccgggcatcgtgcccaggaggcgagaaagggctgggcgcctgaggggcaggtgggcgcggatccagggtaaggggttaaggaggtgatgctcccaaggtccgggggcccaggcggggaagtggggtgcggtcggaggtggggcgtttgggggtgtgcggtggggaggtggctgcgcggtggggaggtggctgcgcagggtggagggagtggccagcggccctgcccagattaagcgggaggcgcgccgggcgtctgcactcgggaggccccgcttgttccccgcgcccgcggcggtccgcgttccccgcctccagcccgcctccaacttgcggccgccgggcttggctgcgagagcgccgcgaagaggcagcggggcgcgggtggattggggctggaggtgcgcgtcccgtggggtggcaaggcggcagctcctggcgctgcgggcgtccccacaggaacagactttgacccagaacacagaacctcacttgtcaacaagaaccttctggaagagaagactggcagaatattttttaagtactaagacttgcctgcgatgtggtctctgcacatagtactaatgaggtgctccttcagattgaccaagtccttggccacaggtccctggtcacttatactcattctcttttctgtacaatatgtatatgggagtggaaagaaatacattggtccttgtggaggaagagattgctctgtttgccactgtgttcctgaaaaggggtctcggggtccaccaggaccaccagggccacagggtccaattggacccctgggagccccaggacccattgggctttcaggagagaaaggaatgagaggggaccgcggccctcctggagcagcaggggacaaaggagataagggtccaactggtgttcctggatttccaggtttagatggcatacctgggcacccagggcctcctggacccagaggcaaacctggtatgagtggccacaatggctcaagaggtgacccagggtttccaggaggaagaggagctcttggcccaggaggccccctaggccatcctggggaaaagggagaaaaaggaaattcagtgttcattttaggtgccgttaaaggtattcagggagacagaggggacccaggactgcctggcttaccaggatcttggggtgcaggaggaccggcaggtcccacaggatatcctggagagccagggttagtgggacctccgggccaaccagggcgtccaggtttgaagggaaatcccggtgtgggagtaaaggggcaaatgggagacccgggtgaggttggtcagcaaggttctcctggacccaccctgttggtagagccacctgacttttgtctctataaaggagaaaagggtataaaaggaattcctggaatggttggactgccaggaccaccaggacgcaagggagaatctggtattggggcaaaaggagaaaaaggtattcctggatttccagggcctcggggggatcctggttcctatggatctccaggttttccaggattaaagggagaactaggactggttggagatcctgggctatttggattaattggcccaaagggggatcctggaaatcgagggcacccaggaccaccaggtgttttggtgactccacctcttccactcaaaggcccaccaggggacccagggttccctggccgctatggagaaacaggggatgttggaccacctggtcccccaggtctcttgggcagaccaggggaagcctgtgcaggcatgataggaccccctgggccacaaggatttcctggtcttcctgggcttccaggagaagctggtattcctgggagacctgattctgctccaggaaaaccagggaagccaggatcacctggcttgcctggagcaccaggcctgcagggcctcccaggatcaagtgtgatatactgtagtgttgggaaccccggaccacaaggaataaaaggcaaagttggtcccccaggaggaagaggcccaaaaggagaaaaaggaaatgaaggactctgtgcctgtgagcctggacccatgggcccccctggccctccaggacttcctgggaggcaggggagtaagggagacttggggctccctggctggcttggaacaaaaggtgacccaggacctcctggtgctgaaggacctccagggctaccaggaaagcatggtgcctctggaccacctggcaacaaaggggcgaagggtgacatggttgtatcaagagttaaagggcacaaaggagaaagaggtcctgatgggcccccaggatttccagggcagccaggatcacatggtcgggatggacatgctggagaaaaaggggatccaggacctccaggggatcatgaagatgcgaccccaggtggtaaaggatttcctggacctctgggccccccaggcaaagcaggacctgtggggcccccaggactgggatttcctggtccaccaggagagcgaggccacccaggagttccaggccacccaggtgtgaggggccctgatggcttgaagggtcagaaaggtgacacaatttcttgcaacgtaacctaccctgggaggcatggccctccaggttttgatggacctccaggtccgaagggatttccaggtccccaaggtgcccctgggctgagtggttcagatgggcataaaggcagacctggcacaccaggaacagcggaaataccaggtccacctggttttcgtggtgacatgggagatccgggttttggaggtgaaaaggggtcctcccctgttgggcccccaggccctcccggctcaccaggagtgaatggtcagaaaggaatcccgggagaccctgcatttggtcacctgggacccccgggaaagaggggtctttcaggagtgccagggataaaaggacccagaggtgatccgggatgtccaggggctgaagggccagctggcattcctggattcctaggtctcaaaggtcccaaaggcagagagggacatgctgggtttccaggtgtcccaggtccacctggccattcctgtgaaagaggtgctccagggataccagggcaaccgggactccctgggtatccaggtagcccaggtgctccaggtgggaaaggacagccgggagatgtggggcctcccgggccagctggaatgaaaggcctccccggactcccaggacggcctggggcacatggtcccccaggcctcccaggaatcccaggtccctttggagatgatgggctacctggtcctccaggtccaaagggaccccgggggctgcctggtttcccaggttttcccggagaaagaggaaagcctggtgcagagggatgtcctggcgcaaagggagaacctggagagaagggcatgtctggccttcctggagaccggggactgagaggggccaaaggagccataggacctcccggagatgaaggagaaatggctatcatttcacaaaagggaacacctggggaacctggacctcctggagatgatggattcccaggagaaagaggtgataaaggaactcccgggatgcaagggagaagaggagagccgggaagatacggaccacctggatttcacagaggggaacctggtgagaaaggtcagccagggcctcctggacccccaggccctccaggctcaactggtctaagagggttcattggttttccaggacttccaggtgaccagggtgagccaggttctccaggtccccctggattttcaggaattgatggagcaagaggacctaaaggaaacaaaggtgaccctgccagtcactttggtccacctggtccaaagggtgagccaggtagccctggatgtccagggcattttggagcatccggagagcagggcttgcctggtattcaagggcccagaggatcacctggaaggccagggccacctggctcctctggaccaccagggtgcccaggtgatcacgggatgcctgggctgaggggacagccaggagaaatgggagaccctgggccaagaggcctccagggggatccagggataccaggtcctccgggaataaaaggtccctccggatcacctggcctgaacggcttgcatggattgaaaggtcagaaaggaactaaaggtgcttcaggtttgcatgatgtggggccacctggtccagtgggaatacctgggctaaaaggggagagaggagaccctgggagcccaggaatctctcctccaggtcctcgtggaaagaaaggtcccccaggacccccagggagttcaggaccacctggtcctgcaggtgccacaggaagagctcctaaggacattcctgacccgggtccacctggagatcagggacctcctggtcctgatggcccaagaggagcacctgggcctccaggcctccctgggagtgttgaccttctgagaggggagccaggtgactgtggtctaccagggccaccaggtccccctggcccaccaggccctccaggatacaaaggctttccaggatgtgatggaaaagatggccagaaaggaccagtgggattcccgggaccgcagggaccacatggatttcctgggccacctggagagaagggtttacctggacctccagggagaaaagggcccactggtcttccgggtcccagaggtgaaccggggccacctgcagatgtggatgactgtccccgaatcccaggccttcctggggcgccaggcatgagaggaccagaaggagccatggggctccctggaatgagaggcccctcaggaccagggtgcaaaggagagcctgggctggatggcaggaggggtgtggatggcgtccctgggtctcctgggcctcccggacgtaaaggtgacacaggagaagacggctaccctggaggaccagggcctcctggtcccattggggatcctgggcccaaagggtttggccctggatacctcggtggcttcctcctggttctccacagtcagacggaccaggagcccacctgccccctgggcatgcccaggctctggactgggtatagtctgttatacctggaagggcaagagaaagctcacaatcaagaccttggtctggcagggtcttgccttcccgtatttagcacgctgccctttgcctactgcaacatccaccaggtgtgccactatgcccagagaaacgacagatcctactggctggccagcgctgcgcccctccccatgatgccactctctgaagaggcgatccgcccctatgtcagccgctgtgcggtatgcgaggccccggcccaggcggtggcggtgcacagccaggaccagtccatccccccatgtccgcagacctggaggagcctctggatcgggtattcattcctgatgcacacaggagctggggaccaaggaggagggcaggcccttatgtcacctggcagctgcctggaagatttcagagcagcaccattccttgaatgccagggccggcagggaacttgccactttttcgcaaataagtatagcttctggctcacaacggtgaaagcagacttgcagttttcctctgctccagcaccagacaccttaaaagaaagccaggcccaacgccagaaaatcagccggtgccaggtctgcgtgaagtatagctagagaatgcgaaattcaccaacacgtggccaagagaaacttcctagggggctaagacttcctagactgtgctaagagatgtcatggtgctcattttggactccctttcagtggttccttctgttttgtcgtggttattcccagagtcctctggttccttacacattaagcaaatgctgcacagatggatttgtttggacctcccaatctagggagcctagatactcttattttactgaggatgatcgaagaactggctttacttaaaaatatgctaattctcagaaaggcaagtagatgataaaggccagattacaaattacattactgaaaacttcattcttgggttaacagtatctcaaacaattgaagtcaattactctataatacagtgggcttctggatggattttataggaaaaaataaacaggtcaatgaatgaaactagaaagcagagattttcaacatttcaaaatgatttcctctgtaatctatttttccatatactttaaataatggtaaaaccatgacgcaaagagagatttttttttaaagaagaaaaaaaaaaattcacactgccagcgttaacagttcctttcaaaggagaatgaatcatgatggcaggaaggcccacagtcgccgtattccagagatgcgacattagcataaacacatcacagatgaatataaaacattatgttctcttctgcatttttcagagaatagaaatgcctactttggcaacccttttgaaaagtagcaattatggaaaaaaaatattcaataagagattaggagcctaaaagctattagtgaatattaaggtagttattcacaaaaattgactccccattgcagtgaacttccagacagactgcttttccccagtcggggtccggcgtgtcacaggtgcgtgcgtgctaatgggactgacgctacatggggctcactcaggcaggcacgcgcttcatacaaagcatctcactcccctccccaggagagcctgcacagcttcttgcactcacaacggacactttgctccacacacataatggcagctcacacagggacgtgacagagctatcattatgcacttgggagaaaattaagggccgatttaattaaacttaggtaagaagattcatttaagtcagggttaccccatcaggaggacatggcactatctttaaacgaaacaaagacaatttataatttgaattttatgctcccgtggttggctgttacaggagcatcccattttgccaattttaaagacattcttatatttcatatcagtcttgtaccaaggcaacagtttgacatttggcattagtattttctaaaaaagtttagaatgtgtgtcaatttataatgattatttttttctgtaaagcaaaagatccctttttctgttttgctaggaatttggtgatctaatcctaaatttaaaagatttgttggaaaaaatttttaggaaactcaccttcctcatctaaaagaaaaaggcattttagagaaaactaaagaaatttctcatgagcgtgacactcattttagtgctttgtttccgtgcacttaaaaataattgagaagaaaaactcaattaaaattttgtttataagaaatgttttccttgccaaaccttgatttgtaatgagctcttatatgcagaacacatttcaaatgagttttgctatgggctgcccccagggtggcaatttattttaagagtattttctggtaaaaagaaaaatgtgtattttaagatgaaatattttcttgatgtagcagaatatttcctagttcatttgacccatttgatattttttaaaccatgctctggcatgttgaatatttttgtgcacctaaaacttaagccaatttcaatcttatttgtgattacctttctccttcccaaaaagctttatctattaccaaaagtcaaccctcctaaaagttcaacctgttcatcttgaacttggcctgagaacattttctgggaagaggtaagggtgacaaatggaacatcagaaacgtatcttgcttgctaattattttaaacactttaatgttggtattagaatattatcttcataagttaataaataagtaaaaaaaaaaaacccacacaaagacaggctaaattatgtagacagtttactccacagtgagcttgggaaggtatcagactgttcaaaatgttagtattacaagagctgtctctaaatgcagcattaacactgccctctaattttacaaaagtattttaaaggatcaaaagggcggaaaaataacttcttggaatagaagatcctgttaccttaaaccattattttcttcacctggttatatatcaatgtgccttcaattaccctttctctgtggaggtgatgaacaaagcttttaagttgttctcctaacccattattggagatgatccttatcaaacccttctctccctgcctccccaccaaccttgtagactggaacgtgcctagattgccctaatgggaactgttctgttctgtgcccgtgctggaaatctgggatgcttccttctgggttctgattctcagtgagtggagcccattcatccaggcaggtttccatgctatgagtggccctttcgttctgctctcacactccccacattgaaagctgagtcatcgctgctttggatggctacctcctctttagccccgtgcccgtctcacacagcctttgttttccacctccacccttgcagtaggcatctcccagttggtgccttagtttcaaatcccagttgccatctaagatccacccaaacttgattttgtcaccctctggattagaatccttctgtgactccgctgcccatgaagtccaaatgacttcctatggggtgaaaggtccagtggggactgttcgagggttccctctaggagtatttcctgtcatgatgaactgtgtgcagctctgcagacactcccagcacctcttcgactttgctcctgcttcaccagtgatgtcctccctggggtcagtttaccctgcgtgggaggtgaattccctgggggaaacttaggctcccttctgctgctcttgtgcagtgcacggggctgtcctcattttctccgttccccattgcttctttaatgtctcagtgcacttccttcattccattgccaaaatgcaagccccttgagggcagggaccatgcttgactcgtttttgtatgcctaatgcctagcacagagttgaacacattactgccaattcatttttttcaatgacaattccataaacatcattaggcattaggtgttcagctctgcatataaggtcttcatcagcaagacggttacaagtataaaccatttcctatttcagaatattttaatattcaacatatttgtatacccacattctcttgttacaattattgccagaaagccaattgataagctttcaaaatgggcttatcacacccctccaaaaatagatttttgttttttctataaacagaaatttcagaaatgagatttgagagatccgactgagaagacccttcagtaaaatgtgacatgacttaccttatgctgtaatctgtattccctcaggatttaagagcttcctagcataaaatctttgctaaacgtttgtgtacatgttattggtgctccgaaaaatagtcaatggaatggtgcactacaattgggctttatcatcttattttgaacctcgtgtagattacagtaaagcaaaccattcagtgtgttccaggaaattatattagatctgtgtttctatcagctcactggaataatctgataattgttacttttacttggtatggctgcaagaatagtggaaagaagaggacttgagagttggtcgaacccaggtttgaaatctggcttagtcatttttcagctgttatcctgggtgagttttgccaactttcttagcttcatttccctcattaatacggtgggacataacagctactcttgcattgaaaattaagttagattacctgtctagcatacccatcatcatacacttactatggtcacattttgtatttaaaataaactaatacgaaaaatatttctttttttttacacagaattatgattctcacagggtatataaattactgattagaattatttatatgtggccaattcttaatgtcattgggaatgctgtttcatttcaatcctcaaagttactgtagcacagaaaatatcacaatttcctgcagggacattatcagtaagttctgcagggaacaaacaattgacattaaaaatcagtactctgcaattgtcactgttatcatctgctagaaactctgcataatgcattttaaaccaccaaggctggctgccacatccatgtgaaatgcttgaattttatggtgcttaaatatttaatgattcatgggaaaaatgtgaaatgtgtctaataaattgcatccctttctctaacctctggttgtaaagttaaagactttcagcatgtaacttttgcaagatgcctggtctgccattggcacttaaatatttgttgtattacgatttataatatggttcattatatataaaattctgtgatgacttccaaaaacaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1286 -> Molecular function: GO:0005201 [extracellular matrix structural constituent] evidence: IMP
            GeneID:1286 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
            GeneID:1286 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS
            GeneID:1286 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
            GeneID:1286 -> Biological process: GO:0030574 [collagen catabolic process] evidence: TAS
            GeneID:1286 -> Biological process: GO:0032836 [glomerular basement membrane development] evidence: IMP
            GeneID:1286 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
            GeneID:1286 -> Cellular component: GO:0005587 [collagen type IV] evidence: IDA
            GeneID:1286 -> Cellular component: GO:0005605 [basal lamina] evidence: IDA
            GeneID:1286 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS

by @meso_cacase at DBCLS
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