SOX7 SRY-box transcription factor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX7provided by HGNC
Official Full Name: SRY-box transcription factor 7provided by HGNC
Primary source: HGNC:HGNC:18196
See related: Ensembl:ENSG00000171056 MIM:612202; AllianceGenome:HGNC:18196
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 regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 14.9), lung (RPKM 8.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (10723768..10730511, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (9008562..9015305)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (10581278..10588021, complement)

Chromosome 8 - NC_000008.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation].
Title: [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation].
The blood vasculature instructs lymphatic patterning in a SOX7-dependent manner.
Title: The blood vasculature instructs lymphatic patterning in a SOX7-dependent manner.
The mechanism by which crocetin regulates the lncRNA NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high glucose-induced diabetic retinopathy.
Title: The mechanism by which crocetin regulates the lncRNA NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high glucose-induced diabetic retinopathy.
SOX7 modulates the progression of hepatoblastoma through the regulation of Wnt/beta-catenin signaling pathway.
Title: SOX7 modulates the progression of hepatoblastoma through the regulation of Wnt/β-catenin signaling pathway.
Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.
Title: Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.
CircUBQLN1 Promotes Proliferation but Inhibits Apoptosis and Oxidative Stress of Hippocampal Neurons in Epilepsy via the miR-155-Mediated SOX7 Upregulation.
Title: CircUBQLN1 Promotes Proliferation but Inhibits Apoptosis and Oxidative Stress of Hippocampal Neurons in Epilepsy via the miR-155-Mediated SOX7 Upregulation.
A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
Title: A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
Endothelial deletion of SHP2 suppresses tumor angiogenesis and promotes vascular normalization.
Title: Endothelial deletion of SHP2 suppresses tumor angiogenesis and promotes vascular normalization.
The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling.
Title: The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling.
SOX7 blocks vasculogenic mimicry in oral squamous cell carcinoma.
Title: SOX7 blocks vasculogenic mimicry in oral squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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

EBI GWAS Catalog

Description
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. 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

RH81045 (e-PCR)
- UniSTS:86016

SOX7_1773 (e-PCR)
- UniSTS:277765

RH65392 (e-PCR)
- UniSTS:18703

SOX7 (e-PCR)
- UniSTS:519105

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 factor activity	IDA Inferred from Direct Assay 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 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 cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoderm formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	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 regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed

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 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

General protein information

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Preferred Names: transcription factor SOX-7

Names: SRY (sex determining region Y)-box 7; SRY-box 7

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_053010.1 RefSeqGene

Range

5064..11807

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_031439.4 → NP_113627.1 transcription factor SOX-7

See identical proteins and their annotated locations for NP_113627.1

Status: REVIEWED

Source sequence(s)

AC105001, BC004299, HY089489

Consensus CDS

CCDS5977.1

UniProtKB/Swiss-Prot

B4DKV0, Q53YD0, Q9BT81

UniProtKB/TrEMBL

Q53ER5

Related

ENSP00000301921.1, ENST00000304501.2

Conserved Domains (2) summary

cd01388
Location:44 → 115

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 ...

pfam12067
Location:198 → 386

Sox_C_TAD; Sox C-terminal transactivation domain