SRY - sex determining region Y Gene

Also Known as TDF; TDY; SRXX1; SRXY1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6736

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	References	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	References	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	References	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

SRY Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SRY	Q05066	NHERF2	Homo sapiens	Q15599	IF	16166090

Cross: Cross-species interaction Intra: Intraspecies interaction

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	FS
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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13801	SRY Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174539	Human SOX2 mRNA		/	Unkown
HY-RS21288	Sry Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23830	Sox9 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27807	Sry Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

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