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2024-04-16 17:49:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001261415 4357 bp mRNA linear PRI 20-APR-2013
DEFINITION Homo sapiens SRY (sex determining region Y)-box 5 (SOX5),
transcript variant 5, mRNA.
ACCESSION NM_001261415
VERSION NM_001261415.1 GI:387157921
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 4357)
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 4357)
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 4357)
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 4357)
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 4357)
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 4357)
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 4357)
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 4357)
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 4357)
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 4357)
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 AK303970.1, AB081589.1 and
BU675886.1.
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 (5) uses an alternate first exon
compared to variant 1. The resulting isoform (e) has a shorter and
distinct N-terminus compared to isoform a.
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 :: AK303970.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-590 AK303970.1 1-590
591-4285 AB081589.1 567-4261
4286-4296 BU675886.1 63-73 c
4297-4357 BU675886.1 1-61 c
FEATURES Location/Qualifiers
source 1..4357
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12p12.1"
gene 1..4357
/gene="SOX5"
/gene_synonym="L-SOX5"
/note="SRY (sex determining region Y)-box 5"
/db_xref="GeneID:6660"
/db_xref="HGNC:11201"
/db_xref="MIM:604975"
exon 1..164
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(16)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:183633918"
variation complement(32)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:77717736"
variation complement(44..47)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="tgtg"
/db_xref="dbSNP:72058866"
variation complement(53..54)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="gt"
/db_xref="dbSNP:71059948"
variation complement(54..55)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="tg"
/db_xref="dbSNP:35800209"
variation complement(88)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:193255850"
misc_feature 112..114
/gene="SOX5"
/gene_synonym="L-SOX5"
/note="upstream in-frame stop codon"
variation complement(146)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:188664075"
CDS 157..2418
/gene="SOX5"
/gene_synonym="L-SOX5"
/note="isoform e is encoded by transcript variant 5;
transcription factor SOX-5"
/codon_start=1
/product="transcription factor SOX-5 isoform e"
/protein_id="NP_001248344.1"
/db_xref="GI:387157922"
/db_xref="CCDS:CCDS58217.1"
/db_xref="GeneID:6660"
/db_xref="HGNC:11201"
/db_xref="MIM:604975"
/translation="
MSVMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMELAKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLLPPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGIPQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPALRINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGKVAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSESRIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNLEKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYFNVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEPHIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
"
misc_feature 1789..1980
/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(1798..1800,1804..1809,1813..1818,1825..1830,
1837..1839,1849..1851,1873..1875,1888..1890,1897..1899,
1906..1908,1963..1965)
/gene="SOX5"
/gene_synonym="L-SOX5"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28966"
exon 165..396
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(170)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:4130426"
variation complement(191)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756182"
variation complement(192)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370911470"
variation complement(218)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:147299551"
variation complement(262)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144090513"
variation complement(291)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756180"
variation complement(322)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200092614"
variation complement(330)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377574533"
variation complement(365)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:142765190"
variation complement(394)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373671026"
variation complement(395)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201538958"
exon 397..607
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(489)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370713247"
variation complement(522)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:143864592"
variation complement(597)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:149450279"
variation complement(603)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202009064"
exon 608..694
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(612)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:202141856"
variation complement(616)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200085400"
variation complement(633)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:137922560"
variation complement(675)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201129307"
variation complement(684)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200177288"
exon 695..867
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(703)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200511462"
variation complement(733)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150313076"
variation complement(756)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:188932107"
variation complement(777)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:139577239"
variation complement(790)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375058690"
variation complement(828)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:138669581"
variation complement(849)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:184892176"
exon 868..936
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(876)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144824530"
variation complement(921)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142014018"
exon 937..1057
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
STS 951..1143
/gene="SOX5"
/gene_synonym="L-SOX5"
/standard_name="Sox5"
/db_xref="UniSTS:265085"
variation complement(970)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369942747"
variation complement(999)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:151018292"
variation complement(1000)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:201164077"
variation complement(1032)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372530037"
exon 1058..1143
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1066)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375598187"
variation complement(1107)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142710312"
variation complement(1137)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201582044"
exon 1144..1290
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1153)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374300705"
variation complement(1158)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:369259068"
variation complement(1179)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148919476"
variation complement(1185)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:61923847"
variation complement(1194)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145713000"
variation complement(1211)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:144670919"
variation complement(1230)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756179"
variation complement(1252)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112856842"
variation complement(1255)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371364235"
variation complement(1262)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376540070"
variation complement(1272)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372480856"
variation complement(1274)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370708676"
variation complement(1276)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369028530"
exon 1291..1468
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1344)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:61729665"
variation complement(1364)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373260333"
variation complement(1365)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369327498"
variation complement(1464)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:147296358"
exon 1469..1614
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1517)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201094394"
exon 1615..1723
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1620)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202222877"
variation complement(1621)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199957729"
variation complement(1626)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200992905"
variation complement(1651)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:140106320"
STS 1708..2212
/gene="SOX5"
/gene_synonym="L-SOX5"
/standard_name="Sox5"
/db_xref="UniSTS:265086"
variation complement(1719)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:112285652"
exon 1724..1897
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1727)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150895673"
variation complement(1853)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199511075"
exon 1898..2114
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(1899)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:374480313"
variation complement(1933..1934)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="cc"
/db_xref="dbSNP:144971126"
variation complement(2094)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371070527"
exon 2115..4340
/gene="SOX5"
/gene_synonym="L-SOX5"
/inference="alignment:Splign:1.39.8"
variation complement(2154)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:141581669"
variation complement(2169)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376617830"
variation complement(2187)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:368161034"
variation complement(2196)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201275351"
variation complement(2202)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199745484"
variation complement(2205)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:138876515"
variation complement(2217)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756181"
variation complement(2218)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:141628352"
variation complement(2248)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202221487"
variation complement(2266)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:183456814"
variation complement(2310)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138618584"
variation complement(2343)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:144757257"
variation complement(2345)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200387603"
variation complement(2346)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:146051086"
variation complement(2352)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:142768593"
variation complement(2368)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201011527"
STS 2454..2687
/gene="SOX5"
/gene_synonym="L-SOX5"
/standard_name="RH80811"
/db_xref="UniSTS:84015"
variation complement(2570)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:138736107"
variation complement(2711)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:61923823"
variation complement(2713)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:76614643"
variation complement(2714)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:76184106"
variation complement(2727..2728)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="t"
/db_xref="dbSNP:201455508"
polyA_signal 2729..2734
/gene="SOX5"
/gene_synonym="L-SOX5"
polyA_site 2757
/gene="SOX5"
/gene_synonym="L-SOX5"
variation complement(2899)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:371919159"
variation complement(2934)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:190885876"
variation complement(2964)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371064999"
variation complement(3021)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:186785434"
variation complement(3277)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:181607943"
variation complement(3327..3330)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="agag"
/db_xref="dbSNP:372687588"
variation complement(3332..3333)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="ga"
/db_xref="dbSNP:148266789"
variation complement(3622)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:115434154"
variation complement(3644)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:191354348"
variation complement(3666)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:144925992"
variation complement(3730)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:75979655"
variation complement(3915)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:74615658"
variation complement(4011)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:140829436"
variation complement(4198)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:186460121"
variation complement(4210..4211)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="agat"
/db_xref="dbSNP:35952699"
variation complement(4211..4212)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="agat"
/db_xref="dbSNP:5797020"
variation complement(4213..4214)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="atag"
/db_xref="dbSNP:151300319"
variation complement(4229)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370517384"
variation complement(4238)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:148041562"
variation complement(4262..4263)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="gtca"
/db_xref="dbSNP:368743600"
variation complement(4276..4277)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace=""
/replace="atct"
/db_xref="dbSNP:377274870"
variation complement(4284)
/gene="SOX5"
/gene_synonym="L-SOX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:180958568"
polyA_signal 4319..4324
/gene="SOX5"
/gene_synonym="L-SOX5"
polyA_site 4340
/gene="SOX5"
/gene_synonym="L-SOX5"
ORIGIN
agtaggagtggagagcgtgcgtgagtgagtgtgtgtgtgtgtgtgtgtgtgtgtgcatgcgtgtgtgaagaatgcacactatctcctgttggtaagtgtgtgcttactccctgaccagatgctgcggtgcacggggcagccaccatctctgcatgcatgtctgtgatgtcttccaagcgaccagcctctccgtatggggaagcagatggagaggtagccatggtgacaagcagacagaaagtggaagaagaggagagtgacgggctcccagcctttcaccttcccttgcatgtgagttttcccaacaagcctcactctgaggaatttcagccagtttctctgctgacgcaagagacttgtggccataggactcccacttctcagcacaatacaatggaagttgatggcaataaagttatgtcttcatttgccccacacaactcatctacctcacctcagaaggcagaagaaggtgggcgacagagtggcgagtccttgtctagtacagccctgggaactcctgaacggcgcaagggcagtttagctgatgttgttgacaccttgaagcagaggaaaatggaagagctcatcaaaaacgagccggaagaaacccccagtattgaaaaactactctcaaaggactggaaagacaagcttcttgcaatgggatcggggaactttggcgaaataaaagggactcccgagagcttagctgagaaagaaaggcaactcatgggtatgatcaaccagctgaccagcctccgagagcagctgttggctgcccacgatgagcagaagaaactagctgcctctcagattgagaaacagcgtcagcaaatggagctggccaagcagcaacaagaacaaattgcaagacagcagcagcagcttctacagcaacaacacaaaatcaatttgctccagcaacagatccaggttcaaggtcagctgccgccattaatgattcccgtattccctcctgatcaacggacactggctgcagctgcccagcaaggattcctcctccctccaggcttcagctataaggctggatgtagtgacccttaccctgttcagctgatcccaactaccatggcagctgctgccgcagcaacaccaggcttaggcccactccaactgcagcagttatatgctgcccagctagctgcaatgcaggtatctccaggagggaagctgccaggcataccccaaggcaaccttggtgctgctgtatctcctaccagcattcacacagacaagagcacaaacagcccaccacccaaaagcaaggatgaagtggcacagccactgaacctatcagctaaacccaagacctctgatggcaaatcacccacatcacccacctctccccatatgccagctctgagaataaacagtggggcaggccccctcaaagcctctgtcccagcagcgttagctagtccttcagccagagttagcacaataggttacttaaatgaccatgatgctgtcaccaaggcaatccaagaagctcggcaaatgaaggagcaactccgacgggaacaacaggtgcttgatgggaaggtggctgttgtgaatagtctgggtctcaataactgccgaacagaaaaggaaaaaacaacactggagagtctgactcagcaactggcagttaaacagaatgaagaaggaaaatttagccatgcaatgatggatttcaatctgagtggagattctgatggaagtgctggagtctcagagtcaagaatttatagggaatcccgagggcgtggtagcaatgaaccccacataaagcgtccaatgaatgccttcatggtgtgggctaaagatgaacggagaaagatccttcaagcctttcctgacatgcacaactccaacatcagcaagatattgggatctcgctggaaagctatgacaaacctagagaaacagccatattatgaggagcaagcccgtctcagcaagcagcacctggagaagtaccctgactataagtacaagcccaggccaaagcgcacctgcctggtggatggcaaaaagctgcgcattggtgaatacaaggcaatcatgcgcaacaggcggcaggaaatgcggcagtacttcaatgttgggcaacaagcacagatccccattgccactgctggtgttgtgtaccctggagccatcgccatggctgggatgccctcccctcacctgccctcggagcactcaagcgtgtctagcagcccagagcctgggatgcctgttatccagagcacttacggtgtgaaaggagaggagccacatatcaaagaagagatacaggccgaggacatcaatggagaaatttatgatgagtacgacgaggaagaggatgatccagatgtagattatgggagtgacagtgaaaaccatattgcaggacaagccaactgataagggtcaaaagattgttgtgaccttaggacttaaagaagccctaactggttcatccttaccagtggccaagcacattaactttctcatacactgactgttactttaactgttagtcttaaatagttgggacatcagctgactaatagacctcagcctcaaaaggcttggaaagaaaaaacaaatacaacaagcaaacaacaatatcaacaacaagagattgaaataagctatgggtaaaataatgccagtaattcagctgctacatccaagcactgaagtcttacccgtcaacttttttttttttttaaataaactttatggctgtttgttctacaatgttctagaaattctcactcaggtacacagtgccaacaagtggcttgtgaatgtgttttgttgttttgtgctacaatttttaaaaagaaaaaagttttgttttgttttttggggtttctgggttttttccttttctttttctttcctttcattttttttctttgtaatgcacctgacagaaaaaaaagaaaaatgaatttctctttacttctctccaccttctccatctctctactttaaagatggaagtctgtgcatgaggggaaagagggaaaaagagcctgtttttaacttccttgctatccaccacaaaataagcaattattttctttagaggactttatctattgcacaccacactacatctttgagcaagtgccaaatttgtactgaagtgttgaccaagttcattttttctctttactttttccttttccttcttaagttaggacagtgttaaatcttagacaatcccttgaaaaacctgaaataccagcagctggtgagatttgacttttttttttaatggaaactgtaggtgctgttctcaggtgaaaagagagagagagagagagacataagaaatttagagaaaaatattttctgatcttggatttttgtgtgtatgtatgtatgtgattatggtactaataataggaataacgttggaccattgtgagttaaacccacatctggggatgaaatcccacatcctcccaagtgactggtctagaaataatcttgaccttgactttgcacttcaaatgacaacttaaccaagtatagggctcagaaattatatttttaaatgtctgattattattggatggatcaggtggccctgtgtaatagaggtgtgcatgtataacatggaagctactagcaaactgctcccagatgtcctttctccctggtcagttggttccattaacgtttgctacttagtgatttttgtttttcctgttgatattttgagcaaaacaatcattgttttcattgaatatatttggccattttttcagacaaatagaattagcttatttcttcaacattccatcctttcccgatcaggaaatgaaactgatgattttataaggtatttttcacccctccatgaagtgaggtggaggcctttagcatttcagaagtgtgggccatatgtagttcatgccataaaaagtaggatttaattaaaagtcattgcagcccaataaaatggagcctggctgcacccagggatccttgccactgctcttcccttgctgtcagattaatccactgaagtccaactttggttcaagcagagtatttgcaaagagcaacaactgaatgtgatgggactgcttatgtagattttgccagccaaatgccaaggcagttgtagggcctgtacaaataaatgcaaaatcatttcaagtcaattgccattatttgtattgaagtatcagatagatagtaaatactgcaactagtagcttgatgtgctatagttttcactccagtcatcattttcctatctcaccccccgaaacaccaccctaaagttggatttttacatataaataaaaaaagaatcccttttaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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