SRY Gene (Protein Coding)

Sex Determining Region Y

GC0YM002698
GIFtS:
35
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 ge... See more...

Aliases for SRY Gene

Aliases for SRY Gene

  • Sex Determining Region Y 2 3 5
  • TDF 2 3 4
  • Sex-Determining Region Y Protein 3 4
  • Testis-Determining Factor 2 4
  • Essential Protein For Sex Determination In Human Males 3
  • Truncated Sex-Determining Region Y Protein 3
  • Testis-Determining Factor On Y 3
  • Sex-Determining Region On Y 3
  • SRXX1 3
  • SRXY1 3
  • TDY 3
  • SRY 5

External Ids for SRY Gene

Previous GeneCards Identifiers for SRY Gene

  • GC0YM002562
  • GC0YM002300
  • GC0YM000007

Summaries for SRY Gene

Entrez Gene Summary for SRY 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 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]

GeneCards Summary for SRY Gene

SRY (Sex Determining Region Y) is a Protein Coding gene. Diseases associated with SRY include 46,Xx Sex Reversal 1 and 46,Xy Sex Reversal 1. Among its related pathways are Signaling by GPCR and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is SOX2.

UniProtKB/Swiss-Prot Summary for SRY Gene

  • Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'.

Gene Wiki entry for SRY Gene

Additional gene information for SRY Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRY Gene

Genomics for SRY Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SRY Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0YJ002786 Enhancer 0.4 ENCODE 600.7 +0.4 354 0.8 KAT7 POLR2A ARID4B SRY RF00026-1209 RNU6-1334P
GH0YJ002781 Enhancer 0.4 ENCODE 0.4 +5.7 5733 1 CEBPA HLF CEBPG RF00026-1209 RNU6-1334P SRY XGY2 lnc-RPS4Y1-11
GH0YJ002823 Enhancer 0.6 ENCODE 0.3 -36.8 -36800 1.1 GATAD2A TFE3 SOX13 FOXA2 TEAD1 RARA TEAD3 HMG20A NR2F6 JUND piR-57460-720 RPS4Y1 piR-33863-193 SRY
GH0YJ002837 Enhancer 0.3 ENCODE 0.2 -50.2 -50212 1.2 FOXA2 CEBPB ENSG00000286130 RPS4Y1 piR-60885-191 SRY
GH0YJ002836 Enhancer 0.2 ENCODE 0.3 -49.2 -49227 0.4 ENSG00000286130 RPS4Y1 piR-60885-191 SRY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRY on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRY

Top Transcription factor binding sites by QIAGEN in the SRY gene promoter:
  • AML1a
  • CUTL1
  • Evi-1
  • GATA-1
  • Nkx2-5
  • Pax-3
  • Sox9
  • SRY
  • STAT1

Genomic Locations for SRY Gene

Genomic Locations for SRY Gene
chrY:2,786,855-2,787,682
(GRCh38/hg38)
Size:
828 bases
Orientation:
Minus strand
chrY:2,654,896-2,655,792
(GRCh37/hg19)
Size:
897 bases
Orientation:
Minus strand

Genomic View for SRY Gene

Genes around SRY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRY Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SRY Gene

Proteins for SRY Gene

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  2. Protein
  3. Assay

  • Protein details for SRY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05066-SRY_HUMAN
    Recommended name:
    Sex-determining region Y protein
    Protein Accession:
    Q05066

    Protein attributes for SRY Gene

    Size:
    204 amino acids
    Molecular mass:
    23884 Da
    Quaternary structure:
    • Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for SRY Gene

neXtProt entry for SRY Gene

Post-translational modifications for SRY Gene

  • Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression.
  • Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3.
  • Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRY Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRY Gene

Domains & Families for SRY Gene

Gene Families for SRY Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SRY Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SRY Gene

GenScript: Design optimal peptide antigens:
  • Sex-determining region Y protein (A7WPU7_HUMAN)
  • Sex-determining region Y protein (A7WPU8_HUMAN)
  • Sex-determining region Y protein (A7WPU9_HUMAN)
  • Sex-determining region Y protein (A7WPV0_HUMAN)
  • Sex-determining region Y protein (A7WPV2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05066

UniProtKB/Swiss-Prot:

SRY_HUMAN :
  • DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than mouse SRY.
  • Belongs to the SRY family.
Domain:
  • DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than mouse SRY.
Family:
  • Belongs to the SRY family.
genes like me logo Genes that share domains with SRY: view

Function for SRY Gene

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  2. CRISPR
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Molecular function for SRY Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'.
GENATLAS Biochemistry:
sex determining region Y,testis determining factor antagonized by DAX1,modulator of LINE retroposons promoter activity

Gene Ontology (GO) - Molecular Function for SRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISM 19274049
GO:0003677 DNA binding IDA 1425584
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005516 calmodulin binding IEA --
GO:0008134 transcription factor binding IPI 16582099
genes like me logo Genes that share ontologies with SRY: view
genes like me logo Genes that share phenotypes with SRY: view

Human Phenotype Ontology for SRY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Transcription Factor Targets for SRY Gene

Selected GeneGlobe predicted Target genes for SRY

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRY

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA and HOMER Transcription for SRY Gene

Localization for SRY Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRY Gene

Nucleus speckle. Cytoplasm. Nucleus. Note=Acetylation contributes to its nuclear localization and deacetylation by HDAC3 induces a cytoplasmic delocalization (PubMed:15297880). Colocalizes with SOX6 in speckles (PubMed:11818535). Colocalizes with CAML in the nucleus (PubMed:15746192). Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity). {ECO:0000250 UniProtKB:Q05738, ECO:0000269 PubMed:11818535, ECO:0000269 PubMed:15297880, ECO:0000269 PubMed:15746192}.

Gene Ontology (GO) - Cellular Components for SRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,NAS 1425584
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SRY: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for SRY Gene

Pathways & Interactions for SRY Gene

genes like me logo Genes that share pathways with SRY: view

Pathways by source for SRY Gene

1 BioSystems pathway for SRY Gene
1 Qiagen pathway for SRY Gene
  • Androgen Signaling

Interacting Proteins for SRY Gene

Selected Interacting proteins: Q05066-SRY_HUMAN for SRY Gene via MINT IID

GPS-Prot Interaction Network for SRY

SIGNOR curated interactions for SRY Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0007548 sex differentiation IEA --
GO:0009653 anatomical structure morphogenesis IBA 21873635
GO:0010628 positive regulation of gene expression IDA 24681825
genes like me logo Genes that share ontologies with SRY: view

Drugs & Compounds for SRY Gene

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  1. Drug

(16) Drugs for SRY Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for SRY Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SRY: view

Transcripts for SRY Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SRY Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRY

Alternative Splicing Database (ASD) splice patterns (SP) for SRY Gene

No ASD Table

Relevant External Links for SRY Gene

GeneLoc Exon Structure for
SRY

Expression for SRY Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRY Gene

mRNA expression in normal human tissues for SRY Gene
mRNA expression by GTEx for SRY GenemRNA expression by BioGPS for SRY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for SRY Gene

This gene is overexpressed in Testis (x13.1), Skin - Sun Exposed (Lower leg) (x8.3), and Skin - Not Sun Exposed (Suprapubic) (x7.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRY

SOURCE GeneReport for Unigene cluster for SRY Gene:

Hs.1992

Phenotype-based relationships between genes and organs from Gene ORGANizer for SRY Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • hypothalamus
  • pituitary gland
Thorax:
  • breast
  • clavicle
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with SRY: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for SRY Gene

Orthologs for SRY Gene

This gene was present in the common ancestor of animals.

Orthologs for SRY Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SRY 30 31
  • 98.69 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SRY 30 31
  • 73.09 (n)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii sox19b 31
  • 24 (a)
 ManyToMany
sox19a 31
  • 22 (a)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta SoxN 31
  • 13 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea sox-2 31
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 16 (a)
 OneToMany
Species where no ortholog for SRY was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SRY Gene

ENSEMBL:
Gene Tree for SRY (if available)
TreeFam:
Gene Tree for SRY (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRY: view image

Paralogs for SRY Gene

Paralogs for SRY Gene

(25) SIMAP similar genes for SRY Gene using alignment to 48 proteins:

  • SRY_HUMAN
  • A7WPU7_HUMAN
  • A7WPU8_HUMAN
  • A7WPU9_HUMAN
  • A7WPV0_HUMAN
  • A7WPV2_HUMAN
  • D0VTX0_HUMAN
  • D0VTX1_HUMAN
  • D0VTX2_HUMAN
  • D0VTX3_HUMAN
  • D1H0M5_HUMAN
  • D6QZA3_HUMAN
  • D6QZA4_HUMAN
  • D9J2M0_HUMAN
  • D9J2M1_HUMAN
  • D9J2M2_HUMAN
  • D9J2M3_HUMAN
  • D9J2M4_HUMAN
  • F5H3H1_HUMAN
  • F5H6J8_HUMAN
  • H9U921_HUMAN
  • H9U923_HUMAN
  • H9U933_HUMAN
  • Q52MX7_HUMAN
  • Q52MX8_HUMAN
  • Q52MX9_HUMAN
  • Q52MY0_HUMAN
  • Q52MY1_HUMAN
  • Q52MY2_HUMAN
  • Q52MY3_HUMAN
  • Q6J0W4_HUMAN
  • Q6J0W5_HUMAN
  • Q6J4I5_HUMAN
  • Q6J4J1_HUMAN
  • Q6PWT1_HUMAN
  • Q7Z5C4_HUMAN
  • Q7Z5C5_HUMAN
  • Q7Z5C6_HUMAN
  • Q7Z5C7_HUMAN
  • Q7Z5C8_HUMAN
  • Q8WZ47_HUMAN
  • U5XK60_HUMAN
  • U5XK65_HUMAN
  • U5XKX7_HUMAN
  • U5XKY1_HUMAN
  • U5XMN5_HUMAN
  • U5XN77_HUMAN
  • U5XN82_HUMAN
genes like me logo Genes that share paralogs with SRY: view

Variants for SRY Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRY Gene

SNP ID Clinical significance and condition Chr 0Y pos Variation AA Info Type
652674 Uncertain Significance: 46,XY sex reversal, type 1 2,787,033(-) AG/A FRAMESHIFT_VARIANT
664404 Pathogenic: 46,XY sex reversal, type 1 2,787,435(-) G/A NONSENSE
703672 Benign: 46,XY sex reversal, type 1 2,787,139(-) G/A SYNONYMOUS_VARIANT
752209 Likely Benign: not provided 2,787,258(-) A/G SYNONYMOUS_VARIANT
752210 Likely Benign: 46,XY sex reversal, type 1 2,787,265(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SRY Gene

Variation tolerance for SRY Gene

Gene Damage Index Score: 0.02; 0.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRY Gene

Human Gene Mutation Database (HGMD)
SRY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRY

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SRY Gene

Disorders for SRY Gene

MalaCards: The human disease database

(27) MalaCards diseases for SRY Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
46,xx sex reversal 1
  • srxx1
46,xy sex reversal 1
  • srxy1
46,xy sex reversal
  • 46 xy gonadal dysgenesis
46,xy partial gonadal dysgenesis
  • 46,xy pgd
46,xx sex reversal
  • 46,xx testicular disorder of sex development
- elite association - COSMIC cancer census association via MalaCards
Search SRY in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SRY_HUMAN
  • 46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. {ECO:0000269 PubMed:10670762, ECO:0000269 PubMed:10721678, ECO:0000269 PubMed:10843173, ECO:0000269 PubMed:10852465, ECO:0000269 PubMed:11563911, ECO:0000269 PubMed:12107262, ECO:0000269 PubMed:12793612, ECO:0000269 PubMed:1339396, ECO:0000269 PubMed:1415266, ECO:0000269 PubMed:1483689, ECO:0000269 PubMed:1570829, ECO:0000269 PubMed:17063144, ECO:0000269 PubMed:2247149, ECO:0000269 PubMed:28030592, ECO:0000269 PubMed:7717397, ECO:0000269 PubMed:7776083, ECO:0000269 PubMed:7985018, ECO:0000269 PubMed:8019555, ECO:0000269 PubMed:8105086, ECO:0000269 PubMed:8353496, ECO:0000269 PubMed:8447323, ECO:0000269 PubMed:9450909, ECO:0000269 PubMed:9521592, ECO:0000269 PubMed:9678356, ECO:0000269 Ref.41, ECO:0000269 Ref.47}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A 45,X chromosomal aberration involving SRY is found in Turner syndrome, a disease characterized by gonadal dysgenesis with short stature, 'streak gonads', variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female.
  • 46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269 PubMed:10602113, ECO:0000269 PubMed:9652903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SRY Gene

gonadal dysgenesis,Swyer syndrome,XY female complete or incomplete sex reversal

Additional Disease Information for SRY

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SRY: view

Publications for SRY Gene

  1. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (PMID: 17063144) Gimelli G … Zuffardi O (European journal of human genetics : EJHG 2007) 3 4 23
  2. KRAB: a partner for SRY action on chromatin. (PMID: 16414182) Oh HJ … Lau YF (Molecular and cellular endocrinology 2006) 3 4 23
  3. Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PMID: 15297880) Thevenet L … Boizet-Bonhoure B (The EMBO journal 2004) 3 4 23
  4. Mutation analysis of five candidate genes in Chinese patients with hypospadias. (PMID: 15266301) Wang Y … Shen Y (European journal of human genetics : EJHG 2004) 3 23 41
  5. Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations. (PMID: 12764225) Harley VR … Jans DA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23

ExternalLinks

View latest publications for SRY gene in Mastermind

Products for SRY Gene

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Sources for SRY Gene