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This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
SOX4 (SRY-Box Transcription Factor 4) is a Protein Coding gene. Diseases associated with SOX4 include Coffin-Siris Syndrome 10 and Coffin-Siris Syndrome 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 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is SOX11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA,ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IDA | 20049565 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,IDA | 19147588 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IBA,IDA | 16631117 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Wnt |
.71
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2 | MicroRNAs in cancer | ||
3 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
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4 | Deactivation of the beta-catenin transactivating complex | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA,ISS | -- |
GO:0001841 | neural tube formation | IEA,ISS | -- |
GO:0002328 | pro-B cell differentiation | IEA,ISS | -- |
GO:0003183 | mitral valve morphogenesis | IEA,ISS | -- |
GO:0003211 | cardiac ventricle formation | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOX4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOX4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOX4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sox4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sox4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SOX4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX4 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox4 30 |
|
||
Str.9180 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68880 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sox4b 30 31 |
|
OneToMany | |
sox4a 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sox14 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sem-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10865 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635852 | Pathogenic: COFFIN-SIRIS SYNDROME 10 | 21,594,868(+) | G/C | MISSENSE_VARIANT | |
635853 | Pathogenic: COFFIN-SIRIS SYNDROME 10 | 21,594,710(+) | T/G | MISSENSE_VARIANT | |
635854 | Pathogenic: COFFIN-SIRIS SYNDROME 10 | 21,594,849(+) | G/T | MISSENSE_VARIANT | |
712534 | Likely Benign: not provided | 21,595,020(+) | C/T | SYNONYMOUS_VARIANT | |
714294 | Benign: not provided | 21,595,692(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1145094 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-siris syndrome 10 |
|
|
coffin-siris syndrome 1 |
|
|
osteogenic sarcoma |
|
|
adenoid cystic carcinoma |
|
|
pediatric osteosarcoma |
|
|