SRY sex determining region Y [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRYprovided by HGNC
Official Full Name: sex determining region Yprovided by HGNC
Primary source: HGNC:HGNC:11311
See related: Ensembl:ENSG00000184895 MIM:480000; AllianceGenome:HGNC:11311
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TDF; TDY; SRXX1; SRXY1
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 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]
Orthologs: all
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Genomic context

Location:: Yp11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (2786855..2787682, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (2463695..2464522, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (2654896..2655723, complement)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Title: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.
Title: Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.
SRY gene isolation from teeth for forensic gender identification-An observational study.
Title: SRY gene isolation from teeth for forensic gender identification-An observational study.
An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
Title: An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
Title: Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Title: Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.
Title: SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.
Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
Title: Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.
Title: Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.
No relationship between SRY variants and risk of Parkinson's disease in Chinese population.
Title: No relationship between SRY variants and risk of Parkinson's disease in Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (95)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
46,XX sex reversal 1 MedGen: C2748895 OMIM: 400045 GeneReviews: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development	Compare labs
46,XY sex reversal 1 MedGen: C2748896 OMIM: 400044 GeneReviews: Nonsyndromic Disorders of Testicular Development Overview	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-22) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-22) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SRY (e-PCR)
- UniSTS:480298

NoName (e-PCR)
- UniSTS:482099

GDB:309125 (e-PCR)
- UniSTS:42547

RH38681 (e-PCR)
- UniSTS:89213

G66049 (e-PCR)
- UniSTS:230040

SRY-1-6 (e-PCR)
- UniSTS:513692

NoName (e-PCR)
- UniSTS:486835

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in male sex determination	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of male gonad development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sex differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: sex-determining region Y protein

Names: essential protein for sex determination in human males; sex-determining region on Y; testis-determining factor on Y

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.