SRY (sex determining region Y)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6736
Gene name Gene Name - the full gene name approved by the HGNC.
Sex determining region Y
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRY
Synonyms (NCBI Gene) Gene synonyms aliases
SRXX1, SRXY1, TDF, TDY
Chromosome Chromosome number
Y
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Yp11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
480000 11311 ENSG00000184895
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
46, XY Sex Reversal 46,XY sex reversal 1 rs104894975, rs1603308308, rs104894959, rs104894976, rs104894964, rs104894977, rs606231179, rs104894971, rs104894966, rs104894972, rs104894967, rs104894973, rs104894968, rs1057519627, rs104894969
View all (11 more)		 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
46, XX Gonadal Sex Reversal 46,XX sex reversal 1 N/A N/A GenCC
Show/Hide Text Mining Associations (66)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
18 Hydroxylase deficiency Associate 19661285
46 XX Disorders of Sex Development Associate 25351776, 31476840, 34050715, 38003010
46 XX Testicular Disorders of Sex Development Associate 1438307, 14689056, 18990383, 21344134, 23157850, 24003159, 24668626, 25169080, 28030592, 28379671, 32239110, 33131361, 34098200, 36026611, 37697768
View all (4 more)
46 XY female Associate 17493621, 36694125
Addison Disease Associate 18322303
Adrenal hyperplasia congenital type 5 Associate 26345865
Allanson Pantzar McLeod syndrome Associate 20849656, 35222615
Amenorrhea Associate 17493621, 18990383, 20302644, 36694125
Androgen Insensitivity Syndrome Associate 27821113
Anorchia Associate 8105086