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 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
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