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Gene id 6660
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol SOX5   Gene   UCSC   Ensembl
Aliases L-SOX5, L-SOX5B, L-SOX5F, LAMSHF
Gene name SRY-box 5
Alternate names transcription factor SOX-5, SRY (sex determining region Y)-box 5,
Gene location 12p12.1 (24562700: 23529498)     Exons: 29     NC_000012.12
Gene summary(Entrez) 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 for
OMIM 604975

SNPs
rs11046992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.23584632G>A
NC_000012.12   g.23584632G>C
NC_000012.12   g.23584632G>T
NC_000012.11   g.23737566G>A
NC_000012.11   g.23737566G>C
NC_000012.11   g.23737566G>T
NG_029612.2   g.982815C>T
NG_029612.2   g.982815C>G
NG_029612.2   g.982815C>A|SEQ=[G/A/C/T]|GE

rs10842262

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.24031610G>C
NC_000012.11   g.24184544G>C
NG_029612.2   g.535837C>G|SEQ=[G/C]|GENE=SOX5

rs146039840

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.23949682T>G
NC_000012.11   g.24102616T>G
NG_029612.2   g.617765A>C
NM_001330785.1   c.-81A>C|SEQ=[T/G]|GENE=SOX5

Protein Summary
Protein general information P35711  

Name: Transcription factor SOX 5

Length: 763  Mass: 84,026

Sequence MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSLLTQ
ETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRK
MEELIKNEPEETPSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKK
LAASQIEKQRQQMELAKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLL
PPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGIPQGNLGAAVSPTSIH
TDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPALRINSGAGPLKASVPAALASPSARVSTIGYL
NDHDAVTKAIQEARQMKEQLRREQQVLDGKVAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDF
NLSGDSDGSAGVSESRIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNL
EKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYFNVGQQAQIPIATAGV
VYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEPHIKEEIQAEDINGEIYDEYDEEEDDPDVDY
GSDSENHIAGQAN
Structural information
Interpro:  IPR009071  IPR036910  
Prosite:   PS50118
MINT:  
STRING:   ENSP00000398273
Other Databases GeneCards:  SOX5  Malacards:  SOX5

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0003677 DNA binding
 IEA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006366 transcription from RNA po
lymerase II promoter
 TAS biological process
GO:0032332 positive regulation of ch
ondrocyte differentiation
 IDA biological process
GO:0055059 asymmetric neuroblast div
ision
 IGI biological process
GO:0061036 positive regulation of ca
rtilage development
 IDA biological process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
 IDA biological process
GO:2000741 positive regulation of me
senchymal stem cell diffe
rentiation
 IDA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006366 transcription from RNA po
lymerase II promoter
 TAS biological process
GO:0032332 positive regulation of ch
ondrocyte differentiation
 IDA biological process
GO:0055059 asymmetric neuroblast div
ision
 IGI biological process
GO:0061036 positive regulation of ca
rtilage development
 IDA biological process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
 IDA biological process
GO:2000741 positive regulation of me
senchymal stem cell diffe
rentiation
 IDA biological process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0006366 transcription from RNA po
lymerase II promoter
 TAS biological process
GO:0032332 positive regulation of ch
ondrocyte differentiation
 IDA biological process
GO:0055059 asymmetric neuroblast div
ision
 IGI biological process
GO:0061036 positive regulation of ca
rtilage development
 IDA biological process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
 IDA biological process
GO:2000741 positive regulation of me
senchymal stem cell diffe
rentiation
 IDA biological process

Diseases

Expand All | Collapse All
Associated diseases References
Cleft defects GAD: 20634891
Scleroderma GAD: 21779181
Bone diseases GAD: 19453261
Spermatogenesis defects MIK: 24303009
Non obstructive azoospermia MIK: 24162948
Oligozoospermia MIK: 24303009
Azoospermia MIK: 24303009
Lamb-Shaffer syndrome OMIM: 604975
Cryptorchidism MIK: 28606200
May regulate steroidogenesis and spermatogenesis MIK: 26045173
Non-obstructive azoospermia (NOA) MIK: 24162948
Spermatogenic defects MIK: 31037746
Azoospermia MIK: 24303009
Oligozoospermia MIK: 24303009
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24162948 Non-obstru
ctive azoo
spermia (N
OA)
 SIRPG (rs1048055, rs2281807), SOX5 (rs11046992, rs146039840, SIRPA (chr20. 1902132, chr20. 1902301))
1198 (618 patie
nts with non-ob
structive azoos
permia (NOA), 5
80 healthy cont
rols)
 Male infertility SIRPG
SIRPA
SOX5
Show abstract
24648396 Nonobstruc
tive azoos
permia (NO
A)
 rs12097821, rs2477686, rs10842262 Han Chi
nese
 1105 (550 NOA c
ases, 555 norma
l controls)
 Male infertility PRMT6
PEX10
SOX5
 Show abstract
24303009 Spermatoge
nic impair
ment, azoo
spermia, o
ligozoospe
rmia
 rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG
1376 (784 indiv
iduals with oli
gozoospermia, 5
92 healthy cont
rols)
 Male infertility
Show abstract
22197933 Non-obstru
ctive azoo
spermia
8661 (2,927 ind
ividuals with N
OA, 5,734 contr
ols)
 Male infertility PRMT6
PEX10
SOX5
 Show abstract
26045173 May regula
te steroid
ogenesis a
nd spermat
ogenesis

Male infertility
Show abstract
30863997 Non-obstru
ctive azoo
spermia
 rs10842262 Chinese
 1351 (631 infer
tile men (NOA a
nd oligozoosper
mia) and 720 he
althy fertile m
en)
 Male infertility
Show abstract
23467743 Nonobstruc
tive azoos
permia
 rs12097821, rs2477686, and rs10842262 Japanes
e
 1657 (490 NOA p
atients and 116
7 fertile contr
ols )
 Male infertility NGS
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
31037746 Spermatoge
nic defect
s
16 (1 control,
15 cases)
 Male infertility GSE6023 analyzed using GEO2R
 Show abstract