SOX18 SRY-box transcription factor 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX18provided by HGNC
Official Full Name: SRY-box transcription factor 18provided by HGNC
Primary source: HGNC:HGNC:11194
See related: Ensembl:ENSG00000203883 MIM:601618; AllianceGenome:HGNC:11194
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: HLTS; HLTRS
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. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 25.4), kidney (RPKM 7.2) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (64047582..64049639, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65867606..65869664, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62678935..62680992, complement)

Chromosome 20 - NC_000020.11 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?

Molecular Mechanism of SOX18 in Lipopolysaccharide-Induced Injury of Human Umbilical Vein Endothelial Cells.
Title: Molecular Mechanism of SOX18 in Lipopolysaccharide-Induced Injury of Human Umbilical Vein Endothelial Cells.
The maturation of iPS cell-derived brain microvascular endothelial cells by inducible-SOX18 expression.
Title: The maturation of iPS cell-derived brain microvascular endothelial cells by inducible-SOX18 expression.
Long non-coding RNA DUXAP10 exerts oncogenic properties in osteosarcoma by recruiting HuR to enhance SOX18 mRNA stability.
Title: Long non-coding RNA DUXAP10 exerts oncogenic properties in osteosarcoma by recruiting HuR to enhance SOX18 mRNA stability.
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Title: Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
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.
Augmented angiogenic transcription factor, SOX18, is associated with asthma exacerbation.
Title: Augmented angiogenic transcription factor, SOX18, is associated with asthma exacerbation.
Significance of SOX18 expression in nonmelanoma skin cancers for prediction of high-risk patients: a preliminary study.
Title: Significance of SOX18 expression in nonmelanoma skin cancers for prediction of high-risk patients: a preliminary study.
Fibroblast Growth Factor 19-Mediated Up-regulation of SYR-Related High-Mobility Group Box 18 Promotes Hepatocellular Carcinoma Metastasis by Transactivating Fibroblast Growth Factor Receptor 4 and Fms-Related Tyrosine Kinase 4.
Title: Fibroblast Growth Factor 19-Mediated Up-regulation of SYR-Related High-Mobility Group Box 18 Promotes Hepatocellular Carcinoma Metastasis by Transactivating Fibroblast Growth Factor Receptor 4 and Fms-Related Tyrosine Kinase 4.
SP1-induced lncRNA LINC00689 overexpression contributes to osteosarcoma progression via the miR-655/SOX18 axis.
Title: SP1-induced lncRNA LINC00689 overexpression contributes to osteosarcoma progression via the miR-655/SOX18 axis.
SOX18 exerts tumor-suppressive functions in papillary thyroid carcinoma through inhibition of Wnt/beta-catenin signaling.
Title: SOX18 exerts tumor-suppressive functions in papillary thyroid carcinoma through inhibition of Wnt/β-catenin signaling.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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
Hypotrichosis-lymphedema-telangiectasia syndrome MedGen: C1843004 OMIM: 607823 GeneReviews: Not available	Compare labs
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MedGen: C4317151 OMIM: 137940 GeneReviews: Not available	Compare labs

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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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 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 sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in blood vessel endothelial cell migration	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardium formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hair cycle process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in lymphangiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphatic endothelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in outflow tract morphogenesis	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 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 regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in stem cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in vasculature development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment 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-18

Names: SRY (sex determining region Y)-box 18; SRY-box 18

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_008095.1 RefSeqGene

Range

4988..7045

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018419.3 → NP_060889.1 transcription factor SOX-18

See identical proteins and their annotated locations for NP_060889.1

Status: REVIEWED

Source sequence(s)

AL355803

Consensus CDS

CCDS13552.1

UniProtKB/Swiss-Prot

P35713, Q0VGA9, Q9NPH8

Related

ENSP00000341815.7, ENST00000340356.9

Conserved Domains (2) summary

cd01388
Location:84 → 155

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:193 → 382

Sox_C_TAD; Sox C-terminal transactivation domain