SOX8 SRY-box transcription factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX8provided by HGNC
Official Full Name: SRY-box transcription factor 8provided by HGNC
Primary source: HGNC:HGNC:11203
See related: Ensembl:ENSG00000005513 MIM:605923; AllianceGenome:HGNC:11203
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
Summary: This 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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]
Expression: Biased expression in brain (RPKM 44.7) and salivary gland (RPKM 3.1) See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (981770..986979)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (992564..997779)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1031770..1036979)

Chromosome 16 - NC_000016.10 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

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Title: Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
SOX8 Knockdown Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting the Notch Signaling Pathway.
Title: SOX8 Knockdown Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting the Notch Signaling Pathway.
SOX8 promotes cetuximab resistance via HGF/MET bypass pathway activation in colorectal cancer.
Title: SOX8 promotes cetuximab resistance via HGF/MET bypass pathway activation in colorectal cancer.
Activation of RSK2 upregulates SOX8 to promote methotrexate resistance in gestational trophoblastic neoplasia.
Title: Activation of RSK2 upregulates SOX8 to promote methotrexate resistance in gestational trophoblastic neoplasia.
The oncogenic role of SOX8 in endometrial carcinoma.
Title: The oncogenic role of SOX8 in endometrial carcinoma.
Aurora-A/SOX8/FOXK1 signaling axis promotes chemoresistance via suppression of cell senescence and induction of glucose metabolism in ovarian cancer organoids and cells.
Title: Aurora-A/SOX8/FOXK1 signaling axis promotes chemoresistance via suppression of cell senescence and induction of glucose metabolism in ovarian cancer organoids and cells.
High SOX8 expression promotes tumor growth and predicts poor prognosis through GOLPH3 signaling in tongue squamous cell carcinoma.
Title: High SOX8 expression promotes tumor growth and predicts poor prognosis through GOLPH3 signaling in tongue squamous cell carcinoma.
Low expression of CircRNA HIPK3 promotes osteoarthritis chondrocyte apoptosis by serving as a sponge of miR-124 to regulate SOX8.
Title: Low expression of CircRNA HIPK3 promotes osteoarthritis chondrocyte apoptosis by serving as a sponge of miR-124 to regulate SOX8.
Variation analysis of SOX8 gene in Chinese men with non-obstructive azoospermia or oligozoospermia.
Title: Variation analysis of SOX8 gene in Chinese men with non-obstructive azoospermia or oligozoospermia.
High SOX8 expression is associated with progression of triple-negative breast cancer.
Title: SOX8 acts as a prognostic factor and mediator to regulate the progression of triple-negative breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-02-22) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2012-02-22) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 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

STS-Z41122 (e-PCR)
- UniSTS:30074

PMC111037P2 (e-PCR)
- UniSTS:270216

STS-H16586 (e-PCR)
- UniSTS:1982

D16S525 (e-PCR)
- UniSTS:148456

Sox9 (e-PCR), detects polymorphism
- UniSTS:498924

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation 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	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Sertoli cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in astrocyte fate commitment	IEA Inferred from Electronic Annotation more info
involved_in cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in enteric nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in enteric nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in male gonad development	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric nephron tubule formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of a branching epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of an epithelium	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of photoreceptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural crest cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural crest cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in peripheral nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gliogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of hormone levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal vesicle induction	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal rod cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ureter morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed
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-8

Names: SRY (sex determining region Y)-box 8; SRY-box 8

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_009933.2 RefSeqGene

Range

4963..10172

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014587.5 → NP_055402.2 transcription factor SOX-8

See identical proteins and their annotated locations for NP_055402.2

Status: REVIEWED

Source sequence(s)

AC009041, BC031797, KF456143

Consensus CDS

CCDS10428.1

UniProtKB/Swiss-Prot

P57073, Q9NZW2

Related

ENSP00000293894.3, ENST00000293894.4

Conserved Domains (2) summary

cd01388
Location:101 → 171

SOX-TCF_HMG-box; 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 ...

pfam12444
Location:18 → 89

Sox_N; Sox developmental protein N terminal