SOX4 SRY-box transcription factor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX4provided by HGNC
Official Full Name: SRY-box transcription factor 4provided by HGNC
Primary source: HGNC:HGNC:11200
See related: Ensembl:ENSG00000124766 MIM:184430; AllianceGenome:HGNC:11200
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSS10; EVI16
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]
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (21593751..21598619)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (21466412..21471279)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (21593982..21598850)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircHDAC9 regulates myocardial ischemia-reperfusion injury via miR-671-5p/SOX4 signaling axis.
Title: CircHDAC9 regulates myocardial ischemia-reperfusion injury via miR-671-5p/SOX4 signaling axis.
SOX4/HDAC2 Axis Enhances Cell Survivability and Reduces Apoptosis by Activating AKT/MAPK Signaling in Colorectal Cancer.
Title: SOX4/HDAC2 Axis Enhances Cell Survivability and Reduces Apoptosis by Activating AKT/MAPK Signaling in Colorectal Cancer.
SOX4 regulates proliferation and apoptosis of human ovarian granulosa-like tumor cell line KGN through the Hippo pathway.
Title: SOX4 regulates proliferation and apoptosis of human ovarian granulosa-like tumor cell line KGN through the Hippo pathway.
SOX4 reversibly induces phenotypic changes by suppressing the epithelial marker genes in human keratinocytes.
Title: SOX4 reversibly induces phenotypic changes by suppressing the epithelial marker genes in human keratinocytes.
PHRF1 Promotes Cell Invasion by Modulating SOX4 Expression in Colorectal Cancer HCT116-p53[-/-] Cells.
Title: PHRF1 Promotes Cell Invasion by Modulating SOX4 Expression in Colorectal Cancer HCT116-p53(-/-) Cells.
Long non-coding RNA NEAT1 inhibits high glucose-induced EMT and renal fibrogenesis in Human Embryonic Kidney 293 cells via regulating miR-204/SOX4 axis.
Title: Long non-coding RNA NEAT1 inhibits high glucose-induced EMT and renal fibrogenesis in Human Embryonic Kidney 293 cells via regulating miR-204/SOX4 axis.
Cancer-associated fibroblasts drive early pancreatic cancer cell invasion via the SOX4/MMP11 signalling axis.
Title: Cancer-associated fibroblasts drive early pancreatic cancer cell invasion via the SOX4/MMP11 signalling axis.
The ALKBH5/SOX4 axis promotes liver cancer stem cell properties via activating the SHH signaling pathway.
Title: The ALKBH5/SOX4 axis promotes liver cancer stem cell properties via activating the SHH signaling pathway.
miR-3195 suppresses the malignant progression of osteosarcoma cells via targeting SOX4.
Title: miR-3195 suppresses the malignant progression of osteosarcoma cells via targeting SOX4.
Temozolomide protects against the progression of glioblastoma via SOX4 downregulation by inhibiting the LINC00470-mediated transcription factor EGR2.
Title: Temozolomide protects against the progression of glioblastoma via SOX4 downregulation by inhibiting the LINC00470-mediated transcription factor EGR2.

Submit: New GeneRIF Correction See all GeneRIFs (222)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Coffin-Siris syndrome 10 MedGen: C4760583 OMIM: 618506 GeneReviews: Coffin-Siris Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SOX4_1527 (e-PCR)
- UniSTS:277763

SOX4_v516 (e-PCR)
- UniSTS:277763

RH46888 (e-PCR)
- UniSTS:54532

A002M13 (e-PCR)
- UniSTS:32543

SGC33328 (e-PCR)
- UniSTS:30292

PMC123659P3 (e-PCR)
- UniSTS:270451

RH36579 (e-PCR)
- UniSTS:10896

RH79983 (e-PCR)
- UniSTS:86436

MARC_10647-10648:1000474126:1 (e-PCR)
- UniSTS:267182

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
NOT enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables miRNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ascending aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrial septum primum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in camera-type eye morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac right ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocrine pancreas development	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glial cell development	IEA Inferred from Electronic Annotation more info
involved_in glial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic stem cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in kidney morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchyme development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitral valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuroepithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in noradrenergic neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of N-terminal peptidyl-lysine acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gamma-delta T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pro-B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in spinal cord development	ISS Inferred from Sequence or Structural Similarity more info
involved_in sympathetic nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcription factor SOX-4

Names: SRY (sex determining region Y)-box 4; SRY-box 4; SRY-related HMG-box gene 4; ecotropic viral integration site 16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029166.1 RefSeqGene

Range

5011..9879

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003107.3 → NP_003098.1 transcription factor SOX-4

See identical proteins and their annotated locations for NP_003098.1

Status: REVIEWED

Source sequence(s)

AJ420500, AL136179, BM817788, CF147018, CN419098, CX873598, HY065060, X70683

Consensus CDS

CCDS4547.1

UniProtKB/Swiss-Prot

Q06945

Related

ENSP00000244745.1, ENST00000244745.4

Conserved Domains (1) summary

cd01388
Location:58 → 129

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...