SOX4 - SRY-box transcription factor 4 Gene

Also Known as CSS10; EVI16

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6659

About SOX4

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:21,593,751-21,598,619 (from NCBI)

This gene has 1 transcript (splice variant), 230 orthologues, 20 paralogues and is associated with 3 phenotypes.

Summary

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 Products (1)

mRNA	Protein	Name
NM_003107.3	NP_003098.1	transcription factor SOX-4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	19147588	GOA
NOT enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	26291311	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	7706298	GOA
enables DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	20049565	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	20049565	GOA
enables protein binding	IDA IDA: Inferred from direct assay	26291311	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16631117	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	19234109	GOA
involved in negative regulation of myoblast differentiation	IDA IDA: Inferred from direct assay	26291311	GOA
involved in negative regulation of protein ubiquitination	IMP IMP: Inferred from mutant phenotype	19234109	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	26291311	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16631117	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19234109	GOA
involved in positive regulation of N-terminal peptidyl-lysine acetylation	IDA IDA: Inferred from direct assay	19234109	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	15522200	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	17875931	GOA
involved in positive regulation of myoblast differentiation	IDA IDA: Inferred from direct assay	26291311	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19147588	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20049565	GOA
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	19234109	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	17875931	GOA
involved in regulation of DNA damage response, signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	19234109	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	7706298	GOA
involved in regulation of protein stability	IMP IMP: Inferred from mutant phenotype	19234109	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17875931	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16631117	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

SOX4 Protein Structure

HMG_box

0
100
200
300
400
474 a.a.

Protein Preferred Names	Protein Names
transcription factor SOX-4	SRY (sex determining region Y)-box 4

SOX4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SOX4	Q06945	TP53	Homo sapiens	P04637	Anti Tag CoIP	19234109
Intra	SOX4	Q06945	TP53	Homo sapiens	P04637	Pull Down	19234109
Intra	SOX4	Q06945	TP53	Homo sapiens	P04637	Anti Bait CoIP	19234109

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Coffin-Siris Syndrome 10	CSS10 Coffin-Siris Syndrome, Type 10
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Hypertrichosis
Hypotonia
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13595	SOX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174601	Human IL5RA mRNA		/	Unkown
HY-RS17375	Sox4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23829	Sox4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SOX4	MGD	MGI:98366
Canis familiaris	SOX4	VGNC	VGNC:54996
Bos taurus	SOX4	VGNC	VGNC:54491
Rattus norvegicus	SOX4	RGD	RGD:1309488
Macaca mulatta	SOX4	VGNC	VGNC:77842
Felis catus	SOX4	VGNC	VGNC:102523
Others	SOX4	NCBI