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

SRY基因（Sex-determining Region Y）是位于Y染色体上的一个关键基因，负责触发哺乳动物的雄性性别发育。它的主要功能是编码一种转录因子（一种调控其他基因表达的蛋白质），在胚胎发育早期激活睾丸决定途径。SRY蛋白通过结合DNA特定序列（如SOX家族结合位点）启动下游基因（如SOX9）的表达，促使未分化的性腺发育为睾丸而非卵巢。若SRY发生突变（如错义突变或缺失），可能导致性反转（46,XY个体发育为女性表型）或Swyer综合征（性腺发育不全）。该基因属于SOX基因家族（SRY-related HMG-box），家族成员均含有保守的HMG结构域（一种DNA结合域），参与多种发育调控过程。SRY过表达可能引起睾丸异常增生或性别发育紊乱，而表达不足则导致雄性化不完全。值得注意的是，SRY并非唯一性别决定基因，它与SF1、WT1等基因形成调控网络，其功能异常还可能与其他疾病（如性腺肿瘤）相关。在极少数46,XX男性病例中，发现SRY基因易位至X染色体的情况，进一步证实其核心作用。

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
结构预测来自 AlphaFold DB（UniProt: Q05066），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

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

Related Publications

Related Publications

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.
Nascimento-Vidoti CG, Fabbri-Scallet H, Guaragna MS, de Wallau MB, de Souza VS, da Costa SS, Krepischi ACV, Mazzeu JF, Carvalho CMB, Maciel-Guerra AT, Guerra-Júnior G, Vieira TP Biol Sex Differ IF: 3.635 2026-02-12
Sri Lankan School Student and Teacher Perspectives of Adolescent Mental Health and Its Determinants: A Qualitative Exploration.
Mudunna C, Chandradasa M, Epasinghe KA, Antoniades J, Weerasinghe M, Tran T, Sumanasiri S, Fisher J Healthcare (Basel) 2026-01-26
Sublytic C5b-9 induces S100A8/A9 expression via SMYD4-dependent SOX7-K159 methylation in the glomerular mesangial cells of Thy-1 nephritis rats.
Gong Y, Peng M, Dong Y, Wang T, Liao J, Li Y, Zhang J, Wang Y, Qiu W J Mol Cell Biol IF: 6.0 2026-02-13
Species delimitation based on phylogenetic analyses of males: A case study revealing the complex evolutionary history of giraffes.
Hassanin A, Jullemier E, Chardonnet B, Robinson TJ Mol Phylogenet Evol IF: 4.0 2026-05-00
Clinical and Epidemiologic Characteristics of Patients with Hepatocellular Carcinoma in South Asia: A Systematic Review and Meta-analysis.
Niriella MA, Dayananda PM, Ranathunga VS, Wijesingha IP, de Silva T, de Silva HJ J Gastrointest Cancer IF: 2.2 2026-02-14
Compound-specific hydrogen isotope analysis of lignin methoxy groups for tea provenance discrimination: Comparison with dual-water equilibration.
Binduhewa K, Amalka BAT, Dissanayake CK, Chandrajith R, Hettiarachchi LSK, Ranatunga MAB Talanta IF: 6.7 2026-07-01
Colonization of selected antibiotic-resistant bacteria among pregnant women: a cross-sectional study at a tertiary care hospital in the Eastern Province of Sri Lanka.
Shamil Mafras FS, Francis VR, Kudagammana W, Dissanayake R, Liyanapathirana V BMC Microbiol IF: 5.4 2026-02-15
Examining macro and micronutrient intakes in the Sri Lankan twin cohort: validation of subjective biomarkers from the COTASS-3 study.
Wickramasinghe M, Liyanage R, Rambodagedara S, Madhujith T, Jabir S, Opatha J, Dissanayake L, Herath B, Sirisena K, Siriwardana R, Wimalasekera M, Jayaweera K, Jayawardena R, Sumathipala A, Rijsdijk F, Zavos HMS BMC Nutr 2026-02-16
Leopards Exhibit Nuanced Predation Patterns but Rely on Wild Prey in a Human-Dominated Agricultural Landscape in the Central Highlands of Sri Lanka.
Kumara PHSC, Kittle AM, Watson AC, Perera SJ, Sanjeewani N, Fernando SP Ecol Evol IF: 2.6 2026-02-00

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