SRY - sex determining region Y Gene

Homo sapiens

Also known as TDF; TDY; SRXX1; SRXY1

Gene ID: 6736 | Gene type: protein coding

About SRY

Cytogenetic location: Yp11.2 Genomic coordinates (GRCh38): Y:2,786,855-2,787,682 (from NCBI)

This gene has 1 transcript (splice variant), 216 orthologues, 20 paralogues and is associated with 8 phenotypes.

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]

SRY Products(1)

mRNA	Protein	Name
NM_003140.3	NP_003131.1	sex-determining region Y protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	1425584	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21412441	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16582099	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9054412	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	21412441	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	24681825	GOA
involved in positive regulation of male gonad development	IDA IDA: Inferred from direct assay	21412441	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	21412441	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SRY Protein Structure

HMG_box

0
100
204 a.a.

Protein Preferred Names

Protein Names

sex-determining region Y protein

essential protein for sex determination in human males

Related Diseases

Diseases

Alias

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development	46,Xx Gonadal Dysgenesis
SRXX1	46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
46,Xx Testicular Dsd	Xx Male Syndrome
46,Xx Complete Gonadal Dysgenesis	46,Xx Pure Gonadal Dysgenesis
Follicular Stimulating Hormone-Resistant Ovaries	Hypergonadotropic Ovarian Dysgenesis
Ovotesticular Disorder Of Sex Development	46,Xx Sex Reversal, Sry-Positive
Xx Male, Sry-Positive	46xx Sex Reversal 1
46, Xx Gonadal Sex Reversal	Xx Sex Reversal
46,Xx Ovarian Dysgenesis	Fsh-Ro
Xx Female Gonadal Dysgenesis	Xx-Gd
46,Xx Ovotesticular Disorder Of Sex Development	46,Xx Ovotesticular Dsd
De La Chapelle Syndrome	Xx, Male Syndrome
46,Xx Gonadal Dysgenesis Complete Sry-Positive	46,Xx Sex Reversal Sry-Positive
46,Xx True Hermaphroditism Sry-Positive	Ovotesticular Dsd
Xx Male Sry-Positive	Ovotesticular Disorders Of Sex Development
46, Xx Testicular Disorders Of Sex Development	Resistant Ovary Syndrome
Dysgenetic Ovaries	Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
True Hermaphroditism	Ovotestis
True Hermaphrodite

46,Xy Sex Reversal 1

SRXY1	46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Sex Reversal, Sry-Related	Swyer Syndrome
46xy Sex Reversal 1	46,Xy Gonadal Dysgenesis Complete Sry-Related
46,Xy Sex Reversal Sry-Related	46,Xy True Hermaphroditism Sry-Related
Gonadal Dysgenesis Xy Female Type	Xy Females
46,Xy True Hermaphroditism, Sry-Related	Gonadal Dysgenesis, 46,Xy
46, Xy Female

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

45,X/46,Xy Mixed Gonadal Dysgenesis

45,X/46,Xy Mgd	45,X0/46,Xy Mgd
45,X0/46,Xy Mixed Gonadal Dysgenesis

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Syndrome With 46,Xy Disorder Of Sex Development

46,Xy Disorder Of Sex Development	Syndrome With 46,Xy Dsd
46,Xy Dsd	46,Xy Dsd Due To A Defect In Testosterone Metabolism
Androgen Resistance Syndrome	Testicular Feminization Syndrome
Androgen Insensitivity Syndrome	Goldberg-Maxwell Syndrome
Morris Syndrome	Male Pseudohermaphroditism With Androgen Resistance
Peripheral Androgen Receptor Disorder	Goldberg-Morris Syndrome
Syndrome Of Feminising Testes	Syndrome Of Feminizing Testes
Testicular Feminisation	Testicular Feminisation Syndrome
Male Pseudohermaphroditism With Feminizing Testis	Tfm - [Testicular Feminisation Syndrome]

Mixed Gonadal Dysgenesis

Gonadal Dysgenesis Mixed

Gonadal Dysgenesis, Mixed

Turner Syndrome

Monosomy X	Gonadal Dysgenesis Turner Type
Ullrich-Turner Syndrome	Bonnevie-Ullrich Syndrome
Karyotype 45, X	Genital Dwarfism, Turner Type
Gonadal Dysgenesis	45,X
Turner'S Syndrome	Gonadal Dysgenesis - Turner
Monosomy X Syndrome	Xo Syndrome
Genital Dwarfism	45, X Syndrome
Bonnevie-Ulrich Syndrome	Chromosome X Monosomy X
Schereshevkii Turner Syndrome	Turner Varny Syndrome
Ts	45,X Syndrome
45,X/46,Xx Syndrome	Turners Syndrome
Gonadal Dysgenesis, 45,X	X0 Syndrome

46,Xx Sex Reversal

46,Xx Testicular Disorder Of Sex Development	46,Xx Testicular Dsd
De La Chapelle Syndrome	Srxx
Xx, Male Syndrome	46, Xx Testicular Disorders Of Sex Development

Gonadoblastoma

GBY

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia	Camptomelic Dysplasia
Campomelic Dysplasia With Autosomal Sex Reversal	Cmpd
CMD1	Cmpd1
Cmpd1/Sra1	Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
Campomelic Dwarfism	Campomelic Syndrome
Dysplasia, Campomelic	Chronic Myeloproliferative Disorder
Familial Dilated Cardiomyopathy

46,Xy Sex Reversal 11

Testicular Regression Syndrome	Trs
SRXY11	Testicular Regression, Embryonic
Xy Gonadal Agenesis/Dysgenesis Syndrome	Anorchia, Familial
46, Xy Sex Reversal 11	Etrs
Embryonic Testicular Regression Syndrome	Vanishing Testes Syndrome
Vanishing Testis Syndrome	Xy Gonadal Agenesis Syndrome

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome	AIS
Testicular Feminization Syndrome	Androgen Receptor Deficiency
Dhtr Deficiency	Dihydrotestosterone Receptor Deficiency
Ar Deficiency	Testicular Feminization
Tfm	Androgen Insensitivity
Androgen-Insensitivity Syndrome	Goldberg-Maxwell Syndrome
Complete Androgen Insensitivity Syndrome	Cais
Feminisation - Testicular	Goldberg - Maxwell Syndrome
Androgen Insensitivity Syndrome, Complete	Morris Syndrome
Ary	AR
Insensitivity Syndrome, Androgen	Androgen Insensitivity Nos

Hypospadias

Hypospadias Familial

Familial Hypospadias

Gynecomastia

Frasier Syndrome

Complete Androgen Insensitivity Syndrome

Cais	Complete Androgen Resistance Syndrome
Androgen Insensitivity Syndrome Complete	Androgen Insensitivity, Complete
Androgen-Insensitivity Syndrome	Testicular Feminization

Leri-Weill Dyschondrosteosis

LWD	Dyschondrosteosis
Dco	Léri-Weill Dyschondrosteosis
Leri Weill Dyschondrosteosis	Leri-Weill Syndrome
Leri-Weil Syndrome	Dyschondrosteosis, Leri-Weill

Dysgerminoma

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia	Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Congenital Lipoid Adrenal Hyperplasia	Lipoid Cah
Lipoid Adrenal Hyperplasia	Adrenal Hyperplasia 1
Cah	Clah
LCAH	Adrenal Hyperplasia I
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism	Congenital Adrenal Hyperplasia Lipoid
Adrenal Hyperplasia, Congenital	Congenital Adrenal Hyperplasia, Lipoid
AH1	Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
Adrenal Hyperplasia Congenital	Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency	Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Gland Hyperplasia	Congenital Adrenogenital Syndrome
Congenital Hyperadrenocorticism	Congenital Adrenogenitalism
Congenital Female Adrenal Pseudohermaphroditism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13801	SRY Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SRY	MGD	MGI:98660
Rattus norvegicus	SRY	RGD	RGD:3759

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