2024-04-24 16:48:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006940 4333 bp mRNA linear PRI 20-APR-2013 DEFINITION Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. ACCESSION NM_006940 VERSION NM_006940.4 GI:30061559 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 4333) AUTHORS Yamashita,S., Miyaki,S., Kato,Y., Yokoyama,S., Sato,T., Barrionuevo,F., Akiyama,H., Scherer,G., Takada,S. and Asahara,H. TITLE L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity JOURNAL J. Biol. Chem. 287 (26), 22206-22215 (2012) PUBMED 22547066 REMARK GeneRIF: L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity REFERENCE 2 (bases 1 to 4333) AUTHORS Lamb,A.N., Rosenfeld,J.A., Neill,N.J., Talkowski,M.E., Blumenthal,I., Girirajan,S., Keelean-Fuller,D., Fan,Z., Pouncey,J., Stevens,C., Mackay-Loder,L., Terespolsky,D., Bader,P.I., Rosenbaum,K., Vallee,S.E., Moeschler,J.B., Ladda,R., Sell,S., Martin,J., Ryan,S., Jones,M.C., Moran,R., Shealy,A., Madan-Khetarpal,S., McConnell,J., Surti,U., Delahaye,A., Heron-Longe,B., Pipiras,E., Benzacken,B., Passemard,S., Verloes,A., Isidor,B., Le Caignec,C., Glew,G.M., Opheim,K.E., Descartes,M., Eichler,E.E., Morton,C.C., Gusella,J.F., Schultz,R.A., Ballif,B.C. and Shaffer,L.G. TITLE Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features JOURNAL Hum. Mutat. 33 (4), 728-740 (2012) PUBMED 22290657 REMARK GeneRIF: Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features REFERENCE 3 (bases 1 to 4333) AUTHORS Hu,Z., Xia,Y., Guo,X., Dai,J., Li,H., Hu,H., Jiang,Y., Lu,F., Wu,Y., Yang,X., Li,H., Yao,B., Lu,C., Xiong,C., Li,Z., Gui,Y., Liu,J., Zhou,Z., Shen,H., Wang,X. and Sha,J. TITLE A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia JOURNAL Nat. Genet. 44 (2), 183-186 (2012) PUBMED 22197933 REMARK Publication Status: Online-Only REFERENCE 4 (bases 1 to 4333) AUTHORS Xu,J., Kang,Y., Liao,W.M. and Yu,L. TITLE MiR-194 regulates chondrogenic differentiation of human adipose-derived stem cells by targeting Sox5 JOURNAL PLoS ONE 7 (3), E31861 (2012) PUBMED 22396742 REMARK GeneRIF: MiR-194 regulates chondrogenic differentiation of adipose-derived stem cells by targeting Sox5 REFERENCE 5 (bases 1 to 4333) AUTHORS Gorlova,O., Martin,J.E., Rueda,B., Koeleman,B.P., Ying,J., Teruel,M., Diaz-Gallo,L.M., Broen,J.C., Vonk,M.C., Simeon,C.P., Alizadeh,B.Z., Coenen,M.J., Voskuyl,A.E., Schuerwegh,A.J., van Riel,P.L., Vanthuyne,M., van 't Slot,R., Italiaander,A., Ophoff,R.A., Hunzelmann,N., Fonollosa,V., Ortego-Centeno,N., Gonzalez-Gay,M.A., Garcia-Hernandez,F.J., Gonzalez-Escribano,M.F., Airo,P., van Laar,J., Worthington,J., Hesselstrand,R., Smith,V., de Keyser,F., Houssiau,F., Chee,M.M., Madhok,R., Shiels,P.G., Westhovens,R., Kreuter,A., de Baere,E., Witte,T., Padyukov,L., Nordin,A., Scorza,R., Lunardi,C., Lie,B.A., Hoffmann-Vold,A.M., Palm,O., Garcia de la Pena,P., Carreira,P., Varga,J., Hinchcliff,M., Lee,A.T., Gourh,P., Amos,C.I., Wigley,F.M., Hummers,L.K., Nelson,J.L., Riemekasten,G., Herrick,A., Beretta,L., Fonseca,C., Denton,C.P., Gregersen,P.K., Agarwal,S., Assassi,S., Tan,F.K., Arnett,F.C., Radstake,T.R., Mayes,M.D. and Martin,J. CONSRTM Spanish Scleroderma Group TITLE Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy JOURNAL PLoS Genet. 7 (7), E1002178 (2011) PUBMED 21779181 REMARK Erratum:[PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/3aeebb2e-64e5-4548-8d65-1f2d5dfeb073] REFERENCE 6 (bases 1 to 4333) AUTHORS Kamachi,Y., Uchikawa,M. and Kondoh,H. TITLE Pairing SOX off: with partners in the regulation of embryonic development JOURNAL Trends Genet. 16 (4), 182-187 (2000) PUBMED 10729834 REMARK Review article REFERENCE 7 (bases 1 to 4333) AUTHORS Lefebvre,V., Li,P. and de Crombrugghe,B. TITLE A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene JOURNAL EMBO J. 17 (19), 5718-5733 (1998) PUBMED 9755172 REFERENCE 8 (bases 1 to 4333) AUTHORS Wunderle,V.M., Critcher,R., Ashworth,A. and Goodfellow,P.N. TITLE Cloning and characterization of SOX5, a new member of the human SOX gene family JOURNAL Genomics 36 (2), 354-358 (1996) PUBMED 8812465 REFERENCE 9 (bases 1 to 4333) AUTHORS Connor,F., Cary,P.D., Read,C.M., Preston,N.S., Driscoll,P.C., Denny,P., Crane-Robinson,C. and Ashworth,A. TITLE DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5 JOURNAL Nucleic Acids Res. 22 (16), 3339-3346 (1994) PUBMED 8078769 REFERENCE 10 (bases 1 to 4333) AUTHORS Denny,P., Swift,S., Brand,N., Dabhade,N., Barton,P. and Ashworth,A. TITLE A conserved family of genes related to the testis determining gene, SRY JOURNAL Nucleic Acids Res. 20 (11), 2887 (1992) PUBMED 1614875 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB081589.1 and BU675886.1. On Apr 23, 2003 this sequence version replaced gi:23308712. Summary: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) encodes the longest isoform (a, also called L-SOX5A). 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 :: AB081589.1, BC065532.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025098 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-4261 AB081589.1 1-4261 4262-4272 BU675886.1 63-73 c 4273-4333 BU675886.1 1-61 c FEATURES Location/Qualifiers source 1..4333 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12p12.1" gene 1..4333 /gene="SOX5" /gene_synonym="L-SOX5" /note="SRY (sex determining region Y)-box 5" /db_xref="GeneID:6660" /db_xref="HGNC:11201" /db_xref="HPRD:18086" /db_xref="MIM:604975" exon 1..140 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(11) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:369084021" variation complement(22) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:146039840" misc_feature 37..39 /gene="SOX5" /gene_synonym="L-SOX5" /note="upstream in-frame stop codon" variation complement(85) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:201853706" variation complement(98) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="g" /db_xref="dbSNP:374784200" variation complement(101) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:140877494" CDS 103..2394 /gene="SOX5" /gene_synonym="L-SOX5" /note="isoform a is encoded by transcript variant 1; transcription factor SOX-5" /codon_start=1 /product="transcription factor SOX-5 isoform a" /protein_id="NP_008871.3" /db_xref="GI:23308713" /db_xref="CCDS:CCDS8699.1" /db_xref="GeneID:6660" /db_xref="HGNC:11201" /db_xref="HPRD:18086" /db_xref="MIM:604975" /translation="
MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMELAKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLLPPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGIPQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPALRINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGKVAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSESRIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNLEKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYFNVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEPHIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
" misc_feature 1765..1956 /gene="SOX5" /gene_synonym="L-SOX5" /note="SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and...; Region: SOX-TCF_HMG-box; cd01388" /db_xref="CDD:28966" misc_feature order(1774..1776,1780..1785,1789..1794,1801..1806, 1813..1815,1825..1827,1849..1851,1864..1866,1873..1875, 1882..1884,1939..1941) /gene="SOX5" /gene_synonym="L-SOX5" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28966" variation complement(130) /gene="SOX5" /gene_synonym="L-SOX5" /replace="g" /replace="t" /db_xref="dbSNP:199934181" exon 141..372 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(146) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:4130426" variation complement(167) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:61756182" variation complement(168) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:370911470" variation complement(194) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:147299551" variation complement(238) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:144090513" variation complement(267) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:61756180" variation complement(298) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:200092614" variation complement(306) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:377574533" variation complement(341) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:142765190" variation complement(370) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:373671026" variation complement(371) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:201538958" exon 373..583 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(465) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:370713247" variation complement(498) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:143864592" variation complement(573) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:149450279" variation complement(579) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:202009064" exon 584..670 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(588) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:202141856" variation complement(592) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:200085400" variation complement(609) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:137922560" variation complement(651) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:201129307" variation complement(660) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:200177288" exon 671..843 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(679) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:200511462" variation complement(709) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:150313076" variation complement(732) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:188932107" variation complement(753) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:139577239" variation complement(766) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:375058690" variation complement(804) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:138669581" variation complement(825) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:184892176" exon 844..912 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(852) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:144824530" variation complement(897) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:142014018" exon 913..1033 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" STS 927..1119 /gene="SOX5" /gene_synonym="L-SOX5" /standard_name="Sox5" /db_xref="UniSTS:265085" variation complement(946) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:369942747" variation complement(975) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="t" /db_xref="dbSNP:151018292" variation complement(976) /gene="SOX5" /gene_synonym="L-SOX5" /replace="g" /replace="t" /db_xref="dbSNP:201164077" variation complement(1008) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:372530037" exon 1034..1119 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1042) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:375598187" variation complement(1083) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:142710312" variation complement(1113) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:201582044" exon 1120..1266 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1129) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:374300705" variation complement(1134) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:369259068" variation complement(1155) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:148919476" variation complement(1161) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:61923847" variation complement(1170) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:145713000" variation complement(1187) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:144670919" variation complement(1206) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:61756179" variation complement(1228) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:112856842" variation complement(1231) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:371364235" variation complement(1238) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:376540070" variation complement(1248) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:372480856" variation complement(1250) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:370708676" variation complement(1252) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:369028530" exon 1267..1444 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1320) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="g" /db_xref="dbSNP:61729665" variation complement(1340) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:373260333" variation complement(1341) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:369327498" variation complement(1440) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:147296358" exon 1445..1590 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1493) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:201094394" exon 1591..1699 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1596) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:202222877" variation complement(1597) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:199957729" variation complement(1602) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:200992905" variation complement(1627) /gene="SOX5" /gene_synonym="L-SOX5" /replace="g" /replace="t" /db_xref="dbSNP:140106320" STS 1684..2188 /gene="SOX5" /gene_synonym="L-SOX5" /standard_name="Sox5" /db_xref="UniSTS:265086" variation complement(1695) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:112285652" exon 1700..1873 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1703) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:150895673" variation complement(1829) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:199511075" exon 1874..2090 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(1875) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:374480313" variation complement(1909..1910) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="cc" /db_xref="dbSNP:144971126" variation complement(2070) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:371070527" exon 2091..4316 /gene="SOX5" /gene_synonym="L-SOX5" /inference="alignment:Splign:1.39.8" variation complement(2130) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:141581669" variation complement(2145) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:376617830" variation complement(2163) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="g" /db_xref="dbSNP:368161034" variation complement(2172) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:201275351" variation complement(2178) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:199745484" variation complement(2181) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:138876515" variation complement(2193) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:61756181" variation complement(2194) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:141628352" variation complement(2224) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:202221487" variation complement(2242) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:183456814" variation complement(2286) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:138618584" variation complement(2319) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:144757257" variation complement(2321) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:200387603" variation complement(2322) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:146051086" variation complement(2328) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:142768593" variation complement(2344) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:201011527" STS 2430..2663 /gene="SOX5" /gene_synonym="L-SOX5" /standard_name="RH80811" /db_xref="UniSTS:84015" variation complement(2546) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="g" /db_xref="dbSNP:138736107" variation complement(2687) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="t" /db_xref="dbSNP:61923823" variation complement(2689) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:76614643" variation complement(2690) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:76184106" variation complement(2703..2704) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="t" /db_xref="dbSNP:201455508" polyA_signal 2705..2710 /gene="SOX5" /gene_synonym="L-SOX5" polyA_site 2733 /gene="SOX5" /gene_synonym="L-SOX5" variation complement(2875) /gene="SOX5" /gene_synonym="L-SOX5" /replace="g" /replace="t" /db_xref="dbSNP:371919159" variation complement(2910) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="g" /db_xref="dbSNP:190885876" variation complement(2940) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:371064999" variation complement(2997) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="g" /db_xref="dbSNP:186785434" variation complement(3253) /gene="SOX5" /gene_synonym="L-SOX5" /replace="g" /replace="t" /db_xref="dbSNP:181607943" variation complement(3303..3306) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="agag" /db_xref="dbSNP:372687588" variation complement(3308..3309) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="ga" /db_xref="dbSNP:148266789" variation complement(3598) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:115434154" variation complement(3620) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="c" /db_xref="dbSNP:191354348" variation complement(3642) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:144925992" variation complement(3706) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:75979655" variation complement(3891) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:74615658" variation complement(3987) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:140829436" variation complement(4174) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:186460121" variation complement(4186..4187) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="agat" /db_xref="dbSNP:35952699" variation complement(4187..4188) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="agat" /db_xref="dbSNP:5797020" variation complement(4189..4190) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="atag" /db_xref="dbSNP:151300319" variation complement(4205) /gene="SOX5" /gene_synonym="L-SOX5" /replace="a" /replace="g" /db_xref="dbSNP:370517384" variation complement(4214) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:148041562" variation complement(4238..4239) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="gtca" /db_xref="dbSNP:368743600" variation complement(4252..4253) /gene="SOX5" /gene_synonym="L-SOX5" /replace="" /replace="atct" /db_xref="dbSNP:377274870" variation complement(4260) /gene="SOX5" /gene_synonym="L-SOX5" /replace="c" /replace="t" /db_xref="dbSNP:180958568" polyA_signal 4295..4300 /gene="SOX5" /gene_synonym="L-SOX5" polyA_site 4316 /gene="SOX5" /gene_synonym="L-SOX5" ORIGIN
gagaaaatcaattggtttagaaggtttggactcacttgacaggttcagttggagacgatcataggtggctgctgtgacaaagggaaattgtgcttttccagcatgcttactgaccctgatttacctcaggagtttgaaaggatgtcttccaagcgaccagcctctccgtatggggaagcagatggagaggtagccatggtgacaagcagacagaaagtggaagaagaggagagtgacgggctcccagcctttcaccttcccttgcatgtgagttttcccaacaagcctcactctgaggaatttcagccagtttctctgctgacgcaagagacttgtggccataggactcccacttctcagcacaatacaatggaagttgatggcaataaagttatgtcttcatttgccccacacaactcatctacctcacctcagaaggcagaagaaggtgggcgacagagtggcgagtccttgtctagtacagccctgggaactcctgaacggcgcaagggcagtttagctgatgttgttgacaccttgaagcagaggaaaatggaagagctcatcaaaaacgagccggaagaaacccccagtattgaaaaactactctcaaaggactggaaagacaagcttcttgcaatgggatcggggaactttggcgaaataaaagggactcccgagagcttagctgagaaagaaaggcaactcatgggtatgatcaaccagctgaccagcctccgagagcagctgttggctgcccacgatgagcagaagaaactagctgcctctcagattgagaaacagcgtcagcaaatggagctggccaagcagcaacaagaacaaattgcaagacagcagcagcagcttctacagcaacaacacaaaatcaatttgctccagcaacagatccaggttcaaggtcagctgccgccattaatgattcccgtattccctcctgatcaacggacactggctgcagctgcccagcaaggattcctcctccctccaggcttcagctataaggctggatgtagtgacccttaccctgttcagctgatcccaactaccatggcagctgctgccgcagcaacaccaggcttaggcccactccaactgcagcagttatatgctgcccagctagctgcaatgcaggtatctccaggagggaagctgccaggcataccccaaggcaaccttggtgctgctgtatctcctaccagcattcacacagacaagagcacaaacagcccaccacccaaaagcaaggatgaagtggcacagccactgaacctatcagctaaacccaagacctctgatggcaaatcacccacatcacccacctctccccatatgccagctctgagaataaacagtggggcaggccccctcaaagcctctgtcccagcagcgttagctagtccttcagccagagttagcacaataggttacttaaatgaccatgatgctgtcaccaaggcaatccaagaagctcggcaaatgaaggagcaactccgacgggaacaacaggtgcttgatgggaaggtggctgttgtgaatagtctgggtctcaataactgccgaacagaaaaggaaaaaacaacactggagagtctgactcagcaactggcagttaaacagaatgaagaaggaaaatttagccatgcaatgatggatttcaatctgagtggagattctgatggaagtgctggagtctcagagtcaagaatttatagggaatcccgagggcgtggtagcaatgaaccccacataaagcgtccaatgaatgccttcatggtgtgggctaaagatgaacggagaaagatccttcaagcctttcctgacatgcacaactccaacatcagcaagatattgggatctcgctggaaagctatgacaaacctagagaaacagccatattatgaggagcaagcccgtctcagcaagcagcacctggagaagtaccctgactataagtacaagcccaggccaaagcgcacctgcctggtggatggcaaaaagctgcgcattggtgaatacaaggcaatcatgcgcaacaggcggcaggaaatgcggcagtacttcaatgttgggcaacaagcacagatccccattgccactgctggtgttgtgtaccctggagccatcgccatggctgggatgccctcccctcacctgccctcggagcactcaagcgtgtctagcagcccagagcctgggatgcctgttatccagagcacttacggtgtgaaaggagaggagccacatatcaaagaagagatacaggccgaggacatcaatggagaaatttatgatgagtacgacgaggaagaggatgatccagatgtagattatgggagtgacagtgaaaaccatattgcaggacaagccaactgataagggtcaaaagattgttgtgaccttaggacttaaagaagccctaactggttcatccttaccagtggccaagcacattaactttctcatacactgactgttactttaactgttagtcttaaatagttgggacatcagctgactaatagacctcagcctcaaaaggcttggaaagaaaaaacaaatacaacaagcaaacaacaatatcaacaacaagagattgaaataagctatgggtaaaataatgccagtaattcagctgctacatccaagcactgaagtcttacccgtcaacttttttttttttttaaataaactttatggctgtttgttctacaatgttctagaaattctcactcaggtacacagtgccaacaagtggcttgtgaatgtgttttgttgttttgtgctacaatttttaaaaagaaaaaagttttgttttgttttttggggtttctgggttttttccttttctttttctttcctttcattttttttctttgtaatgcacctgacagaaaaaaaagaaaaatgaatttctctttacttctctccaccttctccatctctctactttaaagatggaagtctgtgcatgaggggaaagagggaaaaagagcctgtttttaacttccttgctatccaccacaaaataagcaattattttctttagaggactttatctattgcacaccacactacatctttgagcaagtgccaaatttgtactgaagtgttgaccaagttcattttttctctttactttttccttttccttcttaagttaggacagtgttaaatcttagacaatcccttgaaaaacctgaaataccagcagctggtgagatttgacttttttttttaatggaaactgtaggtgctgttctcaggtgaaaagagagagagagagagagacataagaaatttagagaaaaatattttctgatcttggatttttgtgtgtatgtatgtatgtgattatggtactaataataggaataacgttggaccattgtgagttaaacccacatctggggatgaaatcccacatcctcccaagtgactggtctagaaataatcttgaccttgactttgcacttcaaatgacaacttaaccaagtatagggctcagaaattatatttttaaatgtctgattattattggatggatcaggtggccctgtgtaatagaggtgtgcatgtataacatggaagctactagcaaactgctcccagatgtcctttctccctggtcagttggttccattaacgtttgctacttagtgatttttgtttttcctgttgatattttgagcaaaacaatcattgttttcattgaatatatttggccattttttcagacaaatagaattagcttatttcttcaacattccatcctttcccgatcaggaaatgaaactgatgattttataaggtatttttcacccctccatgaagtgaggtggaggcctttagcatttcagaagtgtgggccatatgtagttcatgccataaaaagtaggatttaattaaaagtcattgcagcccaataaaatggagcctggctgcacccagggatccttgccactgctcttcccttgctgtcagattaatccactgaagtccaactttggttcaagcagagtatttgcaaagagcaacaactgaatgtgatgggactgcttatgtagattttgccagccaaatgccaaggcagttgtagggcctgtacaaataaatgcaaaatcatttcaagtcaattgccattatttgtattgaagtatcagatagatagtaaatactgcaactagtagcttgatgtgctatagttttcactccagtcatcattttcctatctcaccccccgaaacaccaccctaaagttggatttttacatataaataaaaaaagaatcccttttaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:6660 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:6660 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:6660 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IEA GeneID:6660 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA GeneID:6660 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA GeneID:6660 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS GeneID:6660 -> Biological process: GO:0021953 [central nervous system neuron differentiation] evidence: IEA GeneID:6660 -> Biological process: GO:0032332 [positive regulation of chondrocyte differentiation] evidence: IDA GeneID:6660 -> Biological process: GO:0045165 [cell fate commitment] evidence: IEA GeneID:6660 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA GeneID:6660 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:6660 -> Biological process: GO:0048709 [oligodendrocyte differentiation] evidence: IEA GeneID:6660 -> Biological process: GO:0051216 [cartilage development] evidence: IEA GeneID:6660 -> Biological process: GO:0060164 [regulation of timing of neuron differentiation] evidence: IEA GeneID:6660 -> Biological process: GO:0061036 [positive regulation of cartilage development] evidence: IDA GeneID:6660 -> Biological process: GO:0071560 [cellular response to transforming growth factor beta stimulus] evidence: IDA GeneID:6660 -> Biological process: GO:2000741 [positive regulation of mesenchymal stem cell differentiation] evidence: IDA GeneID:6660 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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