SRY (sex determining region Y)

Gene Basic Information

Gene Basic Information

symbol:
SRY
locus group:
protein-coding gene
location:
Yp11.2
gene_family:
alias symbol:
TDF
alias name:
testis-determining factor
entrez id:
6736
ensembl gene id:
ENSG00000184895
ucsc gene id:
uc004fqg.3
refseq accession:
NM_003140
hgnc_id:
HGNC:11311
approved reserved:
1990-09-10

Chromosome Location

Chromosome Location

Yp11.2

Gene Summary

Gene Summary

ChineseEnglish

This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]

OMIM entry for SRY     Wikipedia entry for SRY

Gene Sequence

Gene Sequence

Nucleotide sequence of SRY:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC
41NSKYQCETGE NSKGNVQDRV KRPMNAFIVW SRDQRRKMAL
81 ENPRMRNSE ISKQLGYQWK MLTEAEKWPF FQEAQKLQAM
121HREKYPNYKY RPRRKAKMLP KNCSLLPADP ASVLCSEVQL
161D NRLYRDDC TKATHSRMEH QLGHLPPINA ASSPQQRDRY
201SHWTKL
Structure predicted by AlphaFold DB(UniProt: Q05066). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of SRY:           Showing partial SNPs
rs781744002       rs780561417       rs776339584       rs779069000       rs773804421       rs771449441       rs773247144       rs773764555       rs770778716       rs770586680       rs769619586       rs768094734       rs767481926       rs766867548       rs764249635       rs764412387       rs762003265      

Gene Expression

Gene Expression

Tissue expression of SRY:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
AGTATCAGTGTGAAACGGGA
58
GGTCGCTTCACTCTATCCT
58
AGTATCAGTGTGAAACGGG
57
GGTCGCTTCACTCTATCCT
58
GGAGGCACAGAAATTACAGG
58
AGGTCGATACTTATAATTCGGG
57

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
NR5A1
SRY
Activation
11207191
SP1
SRY
Unknown
9582429
SRY
ETV2
Activation
22613723
SRY
NFKBIB
Unknown
12475944
SRY
PROM1
Unknown
21947321
SRY
SOX9
Activation
11980203; 19513096; 19753101; 22215485; 22613723
SRY
SOX9
Unknown
21408189; 21412441
SRY
TH
Unknown
20124442; 22568433
SRY
WDR5
Activation
22523547
TFCP2
SRY
Unknown
19902333

Gene Ontology

Subcellular localization of SRY (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for SRY:

GO ID
Protein
Source DB
GO:0000122
Q05066 (UniProtKB)
IEA
GO:0003677
Q05066 (UniProtKB)
IDA
GO:0003677
Q05066 (UniProtKB)
IDA
GO:0003705
Q05066 (UniProtKB)
IDA
GO:0005516
Q05066 (UniProtKB)
IEA
GO:0005634
Q05066 (UniProtKB)
NAS
GO:0005634
Q05066 (UniProtKB)
IDA
GO:0005634
Q05066 (UniProtKB)
NAS
GO:0005654
Q05066 (UniProtKB)
TAS
GO:0005737
Q05066 (UniProtKB)
IEA
GO:0006351
Q05066 (UniProtKB)
IEA
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008134
Q05066 (UniProtKB)
IPI
GO:0008301
Q05066 (UniProtKB)
IEA
GO:0008584
Q05066 (UniProtKB)
IEA
GO:0016607
Q05066 (UniProtKB)
IEA
GO:0030154
Q05066 (UniProtKB)
IEA
GO:0030238
Q05066 (UniProtKB)
NAS
GO:0044798
Q05066 (UniProtKB)
IEA
GO:0045893
Q05066 (UniProtKB)
IDA
GO:0046982
Q05066 (UniProtKB)
IEA
GO:2000020
Q05066 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating SRY:     

Gene Interactions

Gene Interactions

String
BioGrid
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 0.36 22 20 CLINVAR_CTD_human_UNIPROT
Ovotesticular Disorders of Sex Development 0.24408156 6 0 BeFree_CTD_human_LHGDN_ORPHANET
XX males 0.128143256 30 0 BeFree_ORPHANET
Swyer Syndrome 0.125624334 12 0 BeFree_GAD_ORPHANET
46, XX Testicular Disorders of Sex Development 0.122714419 10 0 BeFree_ORPHANET
46,Xy True Hermaphroditism, Sry-Related 0.12 0 1 CLINVAR
Gonadal Dysgenesis 0.017130633 36 4 BeFree_LHGDN
Turner Syndrome 0.012757768 47 4 BeFree
Gonadal Dysgenesis, 46,XY 0.007881746 19 0 BeFree_LHGDN
46, XY female 0.007328931 27 1 BeFree

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