GGRNA | NM_021926.3

LOCUS       NM_021926               5466 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens ALX homeobox 4 (ALX4), mRNA.
ACCESSION   NM_021926
VERSION     NM_021926.3  GI:261245049
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 5466)
  AUTHORS   Yagnik,G., Ghuman,A., Kim,S., Stevens,C.G., Kimonis,V., Stoler,J.,
            Sanchez-Lara,P.A., Bernstein,J.A., Naydenov,C., Drissi,H.,
            Cunningham,M.L., Kim,J. and Boyadjiev,S.A.
  TITLE     ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
  JOURNAL   Hum. Mutat. 33 (12), 1626-1629 (2012)
   PUBMED   22829454
  REMARK    GeneRIF: ALX4 variants may have an impact on the genetic etiology
            of nonsyndromic craniosynostosis.
REFERENCE   2  (bases 1 to 5466)
  AUTHORS   Ribeiro-Bicudo,L.A., Quiezi,R.G., Guion-Almeida,M.L., Legnaro,C.
            and Richieri-Costa,A.
  TITLE     Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients
            with the syndrome of frontonasal dysgenesis, callosal agenesis,
            basal encephalocele, and eye anomalies
  JOURNAL   Am. J. Med. Genet. A 158A (5), 1233-1235 (2012)
   PUBMED   22496059
  REMARK    GeneRIF: Exclusion of mutations in ALX4 gene in patients with the
            syndrome of frontonasal dysgenesis, callosal agenesis, basal
            encephalocele, and eye anomalies
REFERENCE   3  (bases 1 to 5466)
  AUTHORS   Rotger M, Gsponer T, Martinez R, Taffe P, Elzi L, Vernazza P,
            Cavassini M, Bernasconi E, Hirschel B, Furrer H, Weber R,
            Ledergerber B, Egger M, Telenti A and Tarr PE.
  CONSRTM   Swiss HIV Cohort Study
  TITLE     Impact of single nucleotide polymorphisms and of clinical risk
            factors on new-onset diabetes mellitus in HIV-infected individuals
  JOURNAL   Clin. Infect. Dis. 51 (9), 1090-1098 (2010)
   PUBMED   20879858
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, gene-environment interaction, and pharmacogenomic /
            toxicogenomic. (HuGE Navigator)
REFERENCE   4  (bases 1 to 5466)
  AUTHORS   Doi,T., Puri,P., Bannigan,J. and Thompson,J.
  TITLE     HoxB2, HoxB4 and Alx4 genes are downregulated in the
            cadmium-induced omphalocele in the chick model
  JOURNAL   Pediatr. Surg. Int. 26 (10), 1017-1023 (2010)
   PUBMED   20625746
  REMARK    GeneRIF: Downregulation of HoxB2, HoxB4 and Alx4 expression during
            the narrow window of early embryogenesis may cause omphalocele in
            the Cd chick model by interfering with molecular signaling required
            for proper VBW formation.
REFERENCE   5  (bases 1 to 5466)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS ONE 5 (7), E11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5466)
  AUTHORS   Wuyts,W., Cleiren,E., Homfray,T., Rasore-Quartino,A.,
            Vanhoenacker,F. and Van Hul,W.
  TITLE     The ALX4 homeobox gene is mutated in patients with ossification
            defects of the skull (foramina parietalia permagna, OMIM 168500)
  JOURNAL   J. Med. Genet. 37 (12), 916-920 (2000)
   PUBMED   11106354
REFERENCE   7  (bases 1 to 5466)
  AUTHORS   Wu,Y.Q., Badano,J.L., McCaskill,C., Vogel,H., Potocki,L. and
            Shaffer,L.G.
  TITLE     Haploinsufficiency of ALX4 as a potential cause of parietal
            foramina in the 11p11.2 contiguous gene-deletion syndrome
  JOURNAL   Am. J. Hum. Genet. 67 (5), 1327-1332 (2000)
   PUBMED   11017806
REFERENCE   8  (bases 1 to 5466)
  AUTHORS   Qu,S., Tucker,S.C., Zhao,Q., deCrombrugghe,B. and Wisdom,R.
  TITLE     Physical and genetic interactions between Alx4 and Cart1
  JOURNAL   Development 126 (2), 359-369 (1999)
   PUBMED   9847249
REFERENCE   9  (bases 1 to 5466)
  AUTHORS   Bartsch,O., Wuyts,W., Van Hul,W., Hecht,J.T., Meinecke,P.,
            Hogue,D., Werner,W., Zabel,B., Hinkel,G.K., Powell,C.M.,
            Shaffer,L.G. and Willems,P.J.
  TITLE     Delineation of a contiguous gene syndrome with multiple exostoses,
            enlarged parietal foramina, craniofacial dysostosis, and mental
            retardation, caused by deletions in the short arm of chromosome 11
  JOURNAL   Am. J. Hum. Genet. 58 (4), 734-742 (1996)
   PUBMED   8644736
REFERENCE   10 (bases 1 to 5466)
  AUTHORS   McGaughran,J.M., Ward,H.B. and Evans,D.G.
  TITLE     WAGR syndrome and multiple exostoses in a patient with
            del(11)(p11.2p14.2)
  JOURNAL   J. Med. Genet. 32 (10), 823-824 (1995)
   PUBMED   8558565
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF294629.1, AB058691.1 and
            AC103854.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 10, 2009 this sequence version replaced gi:55743091.
            
            Summary: This gene encodes a paired-like homeodomain transcription
            factor expressed in the mesenchyme of developing bones, limbs,
            hair, teeth, and mammary tissue. Mutations in this gene cause
            parietal foramina 2 (PFM2); an autosomal dominant disease
            characterized by deficient ossification of the parietal bones.
            Mutations in this gene also cause a form of frontonasal dysplasia
            with alopecia and hypogonadism; suggesting a role for this gene in
            craniofacial development, mesenchymal-epithelial communication, and
            hair follicle development. Deletion of a segment of chromosome 11
            containing this gene, del(11)(p11p12), causes Potocki-Shaffer
            syndrome (PSS); a syndrome characterized by craniofacial anomalies,
            mental retardation, multiple exostoses, and genital abnormalities
            in males. In mouse, this gene has been shown to use dual
            translation initiation sites located 16 codons apart. [provided by
            RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            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 :: AF294629.1, AB058691.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-503               AF294629.1         1-503
            504-724             AB058691.1         407-627
            725-1043            AF294629.1         725-1043
            1044-5466           AC103854.2         70932-75354
FEATURES             Location/Qualifiers
     source          1..5466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..5466
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /note="ALX homeobox 4"
                     /db_xref="GeneID:60529"
                     /db_xref="HGNC:450"
                     /db_xref="MIM:605420"
     exon            1..570
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /inference="alignment:Splign:1.39.8"
     STS             3..1513
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /db_xref="UniSTS:482838"
     STS             27..1444
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /db_xref="UniSTS:480627"
     CDS             105..1340
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /note="homeodomain transcription factor ALX4;
                     aristaless-like homeobox 4"
                     /codon_start=1
                     /product="homeobox protein aristaless-like 4"
                     /protein_id="NP_068745.2"
                     /db_xref="GI:55743092"
                     /db_xref="CCDS:CCDS31468.1"
                     /db_xref="GeneID:60529"
                     /db_xref="HGNC:450"
                     /db_xref="MIM:605420"
                     /translation="

MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDAKSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQPHLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYLSVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPDVYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENYAQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVGQTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT

"
     misc_feature    747..923
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(747..761,765..767,816..818,834..836,873..875,
                     879..884,891..896,900..908,912..917)
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(753..755,762..764,882..884,891..896,903..905)
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    1263..1322
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /note="OAR domain; Region: OAR; pfam03826"
                     /db_xref="CDD:146451"
     misc_feature    1275..1316
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H161.2);
                     Region: OAR"
     exon            571..881
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /inference="alignment:Splign:1.39.8"
     exon            882..1010
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /inference="alignment:Splign:1.39.8"
     exon            1011..5466
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /inference="alignment:Splign:1.39.8"
     variation       1250
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:355697"
     variation       2053
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:410592"
     variation       2054
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:454205"
     variation       3819
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:897004"
     variation       4022
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:897005"
     variation       4172
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1840254"
     variation       4285
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373283"
     variation       4286
                     /gene="ALX4"
                     /gene_synonym="FND2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:453267"
ORIGIN

gcacagccacagcctcctcgcctccccaaactcccagccaaggcgcgcggtggcgtcctcgcgccctcgctcgcgtccccgcccgccgcctgcgcaagccaggcatgaatgctgagacttgcgtctcttactgcgagtcgccggccgctgccatggacgcctactacagcccggtgtcgcagagtcgggagggctcgtcgccttttagggcatttcccggaggcgacaagttcggcacaactttcctgtcggccgccgccaaagcacagggattcggggacgccaagagccgggcccgttacggcgctgggcagcaggacctggcgacacccctggagagtggagctggggcgcggggctcctttaacaagttccagccccagccgtcgaccccgcagccccagccgccgccgcagccgcagccgcagcagcagcagccgcagccccagccgcccgcgcaaccgcatctttacttgcagcgaggcgcctgcaagacgcccccggacggcagcctcaaactccaggaaggcagcagcggccacagcgcggccttgcaggttccctgctacgctaaagagagctccctgggtgagccagagttaccccctgactctgacactgtggggatggacagcagctacctgagtgtcaaggaggctggggtgaaggggccccaggaccgggccagctcagacctccccagcccattggagaaggccgactcagagagcaacaagggcaagaagcggcggaaccggaccaccttcaccagctaccagctggaggagctggagaaggtcttccagaagacccactacccagacgtgtatgcgcgggaacagctggccatgaggacagacctcactgaggcccgcgtgcaggtctggttccagaaccgaagggccaagtggaggaagcgggagcgttttgggcagatgcagcaggttcgaacccacttctccactgcatatgagctgcccctcctcacccgagctgagaactacgcccagattcagaacccgtcctggctcggcaacaacggggctgcctcaccagtgccagcctgcgtggtcccctgcgacccggtgcctgcctgcatgtcccctcatgcccacccccctggctctggggccagcagcgtcaccgacttcctgagtgtgtctggggctggcagtcacgtgggccagacgcacatgggcagcctgtttggagcagccagcctcagcccaggcctcaatggctacgagctcaacggcgagccggaccgcaagacctcgagcatcgcggccctccgcatgaaggccaaggagcacagtgcggccatttcctgggccacatgacagggcacccctgccccgtccccacctcgggacaccatgggccacgcccatgttttccaggcccccagcctcccactcgactttcctcttaggaacctggcctgggccaggggcctgaccctcagcactttcagccgccccaagtctgaggccccgtggactgctgggagggagggggcagcaggcccctggcccctccctggcactgaggccctgacccctgctcccggccacaggcagtggagaaagccaggtggccacgtttttcagcttcgcatccatgataagctgaaagcgctttcttgctcccgcccactcctctgctctgcctagttgaccatgagtcaatgctagatttccatgcagacccagcagcctcaccagcccagtcttgtccatccttcccgctcctagtggggtcccctggtcaccaggccggtggctgtgtgtctgaagcacaggctgccctgcagagccagcctcctgccctcccatctttctctccctgaaagcacacggaatccgacctgctggggccaaggcgccagcctccacctccccccgaacagtgacgagtctgacagagcctggctgactgcatcctggctgtcccctaggctggatacacctggagagagtgggcagaggatgacaggagctggagccgaggacccctgctgccatctagcaatgccagtccccaggggagacacgggccagcccctcactggacactataggggaggagccagacctgagggaggctgagaacacagatgccacaagggctcccatggtgctagaagaaggaaaggtcctgggagagggggaggcatccgggtggggcgtgggcccgggcagtcctcccgctctccggcctgcctggcatctggtacagcggggaggtctgggcagctttgttctccatccagagcccagtcaggttccctccaggaggatgcggaggggctcgtctcttccctgccctaccctggcccctccctggggctgctcagcagtgtcccggcatggaaggactcacaacttcggaacacataagctagagcttgggggccgggtggcagagggtcaaaagctgcgtgcaggctttgctagaggacgtgtggccatgctcggcctccaggccctgctatggcctcaaactgactgtcctccctgccatatctgtcagtgtcatcgctgcccagagccttccacggcagatgggggctctgtgtccctccaggcactaggaggtgttgctcttctccacacagctttccacactccgtccttacacttcttccacagggaccaggactctctgccctctctccagcctgcggaagggctcctggcctgggctcctcggtgtggctttgctattgcaaatggggctgtcaggatgccctcctgaaaccaggcttcctgcctccaggaagcggggctctgtgcctgcctgcccgacccctgtagcttgggtctggccctgagccccagccctcacctcagctgggagtacacagtaaccgtccagaggcaggcctgtcagaccccaggtggggggtccctccagcaggcagcgccccgcattgaagcgctcgccttttctaccttctcccttgattcctgtcatggagtagggccaggcccactatgctcagggtcgtggacacagaaaggcctcctgggttgggcggagggtaaacttggtgttgttgaatgagggtctctggggttgggggtgacagtctcccgcctgcctggtgttctcatctgctctagaaaccaggctgaggaagggtctggctgtggcctcccttaatgagtcagacctctttgtgaaccgtagctctaaaatggatcttatagaggtgaaagggtcttggacattgaattaaatgttcttggaggcttggctttaagtgtttcaaatatttgaggatttggagtgacttttgggaagttttttctagttctgaggttcgctgaaatgacccagactcccccaaaatctagccagggaaaggaagaacttaaggctgggaacagtttccccatttctcccccctttccttctgaaatgctcatggctgaggaaggatggggaaggaaggaactttcaccttgggtctttctcacccatgagagaatcaggacaaagaggaggagagccaggtagctccagagtgggccaggagggagagcaagggaatcaggacaaagaggaggacagacaggtagctccagagcaggcagggagggagagtgagagctttaagggggctcttccgcagtggcccccggcactcagttcctccatgcgtctgctctctggctgggctagacccaagtcaggcaaatttcaacccaaaagcttgagaagaaaaggcgtctattagaagactctgtggctatggctgcctgtcccaacacacccaggaagtgtctaggattaaacatgccaatgtgaaacattcctgttcatctcgtcaaaggcagccacgtaccccaggcctgtcctctgtggcttggcccagcccttgggggccacctaaccacactaagtatgataggaccaccgagttgggaggaagcttagaaaccctctagttagtccagtcccttcacaacagagaagaccctggcccagagtggagacatgactgccctgacctgtacttgccctgagactaggctgagagaggagcctgggacgtgccacccagggtgtgagggcctgggcttcgttggcaccaggggcggccggtgctgcatggagctcccctctccaatgcctcatgggcattcactcagcagctcagttctccagaagagaaccttggggcccagtcccttccaagacaggtggctaggcccaaccttctgcactgcagagcagggggccactgccgtgtcagctcctaggatgactgagcaagtcagggcagctgcccaaggccatctggagctaaagctcatgaaggcaggtggagagaagcatctacctgccacgtggttcattgctatgcgaataagctaagagaggtgaggatttcctttggatacctgcctaagatctcaacagagatggcaacttaaaaataaagtcgtgggtagccggcagatggatgggcagcctccccacactgacagcctccagtccctgctgggcacaggtctcagcatggcaaggcttgacactaaggtgctgctactgccctccagatgccagcactactcctggggcatgggagcgagggctctggggggcacacagagaggcttgtctccaaggctgaaatagcacttggaggacatgggcttttagaactttccttgaattcttttaactatacttgattctcagcgctcactaccgtgcctccagcttcgggaagcacggtggccaggttagctcaaagacactgcgatggggtaggtgcagcaagtgtggggtgggtccccagcacacacagctgtgatcacactggacccagctccgtgccccatctcctgtcatttcggctgggcagacgagggacgcttccatgaaaactacgtaccctgcttatgcagtcattccctccctgggctagacagtggggggccatcttcgagaacctgaaagacacgcgggggttcctggtctgtttcatggcccttactgtccagtgcaaaggcaaacaggcctagctgggggaggatggttggtaaactggcccccaggataatactctgtgactatccagttaaaaaataagaaggtgacaatgacccatcaaccccacttcacttctttcaggatgctgtagggaggaaaggtgcttccatgacctaacctcggcctctcctttcttccctcttcactcacacacatagagctaggcctttatactactgattttgaaggacagttttcaatgtctaatcatctgtttaggtgtgcagtggttgaaaaaagaaagctgagtgctagaaggaacatgaacctcaaccgttacttattgttctcattgtaagatattttaaccctgtataaatgcaacttttcctttagcttaatggcctggggtggaatattaaaaatatatattaaaaatacagtaaaaatccagaaaaatgt

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