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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 (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.
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 |
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Wnt |
.71
|
|
2 | CCR5 Pathway in Macrophages |
Androgen Signaling
.52
|
|
3 | Deactivation of the beta-catenin transactivating complex | ||
4 | Signaling by GPCR | ||
5 | Regulation of Androgen receptor activity |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SRY 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SRY 30 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | sox19b 31 |
|
ManyToMany | |
sox19a 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | SoxN 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sox-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
46,xx sex reversal 1 |
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46,xy sex reversal 1 |
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46,xy sex reversal |
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46,xy partial gonadal dysgenesis |
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46,xx sex reversal |
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