SRY (sex determining region Y)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6736
Gene name Sex determining region Y
Gene symbol SRY
Synonyms (NCBI Gene)
SRXX1SRXY1TDFTDY
Chromosome Y
Chromosome location Yp11.2
Summary 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 g
SNPs SNP information provided by dbSNP.
27
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
SNP ID Visualize variation Clinical significance Consequence
rs104894956 A>G Pathogenic Missense variant, coding sequence variant
rs104894957 C>G Pathogenic Missense variant, coding sequence variant
rs104894958 G>A Pathogenic Coding sequence variant, stop gained
rs104894959 G>C Pathogenic Missense variant, coding sequence variant
rs104894964 T>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT1391397 hsa-miR-196a CLIP-seq
MIRT1391398 hsa-miR-196b CLIP-seq
MIRT1391399 hsa-miR-3927 CLIP-seq
MIRT1391400 hsa-miR-487b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
NR5A1 Activation 11207191
SP1 Unknown 9582429
TFCP2 Unknown 19902333
WT1 Activation 11278460
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 21412441
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
480000 11311 ENSG00000184895
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05066
Protein name Sex-determining region Y protein (Testis-determining factor)
Protein function Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) a
PDB 1HRY , 1HRZ , 1J46 , 1J47 , 2GZK , 6EDB , 7YHO , 7YHP , 7YHQ , 9BVD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 60 → 128 HMG (high mobility group) box Domain
Sequence 
MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRV
KRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMH
REKYPNYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLDNRLYRDDCTKATHSRMEHQL
GHLPPINAASSPQQRDRYSHWTKL
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Deactivation of the beta-catenin transactivating complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XX sex reversal 1 Likely pathogenic; Pathogenic rs2124486090, rs1556370543 RCV003236645
RCV000502512
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY disorder of sex development Likely pathogenic rs2124486291 RCV001533005
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY sex reversal 1 Likely pathogenic; Pathogenic rs2124486256, rs1556370558, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970
View all (15 more)		 RCV001964433
RCV003142381
RCV000010390
RCV000010391
RCV000010392
View all (27 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY TRUE HERMAPHRODITISM Pathogenic rs104894959 RCV000010395
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
46,XY COMPLETE GONADAL DYSGENESIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
46,XY PARTIAL GONADAL DYSGENESIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XY — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (257)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XX Disorders of Sex Development 46, XX Disorders of Sex Development BEFREE 19933217, 20082466, 23290744, 25351776, 25604083, 30623467
★★★★★
★☆☆☆☆
Found in Text Mining only
46, XX Testicular Disorders of Sex Development 46, XX Gonadal Sex Reversal BEFREE 15108202, 18391513, 20082466, 22570960, 23110663, 24149105, 24576657, 25102093, 25169080, 25529318, 25604083, 28379671, 30739115
★★★★★
★☆☆☆☆
Found in Text Mining only
46, XY Disorders of Sex Development 46, XY disorder of sex development BEFREE 20302644, 25604083, 27500688
★★★★★
★☆☆☆☆
Found in Text Mining only
46,XX ovotesticular disorder of sex development 46, XX ovotesticular disorder of sex development Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
46,XX testicular disorder of sex development 46, XX Gonadal Sex Reversal Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
46,XY complete gonadal dysgenesis 46, XY complete gonadal dysgenesis Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46, XY Gonadal Dysgenesis UNIPROT_DG 10670762, 10721678, 10843173, 10852465, 11563911, 12107262, 12793612, 1339396, 1415266, 1483689, 1570829, 17063144, 2247149, 28030592, 7717397
View all (9 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46, XY Gonadal Dysgenesis CLINVAR_DG 12107262, 12409269, 1438307, 20528776, 2247151, 28787711, 7718558, 7985018, 8019555
★★★★★
★☆☆☆☆
Found in Text Mining only
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46, XY Gonadal Dysgenesis GENOMICS_ENGLAND_DG 1483689, 7987333
★★★★★
★☆☆☆☆
Found in Text Mining only
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46, XY Gonadal Dysgenesis CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only