SOX18

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.^[5][6]

SOX18
Identifiers
Aliases	SOX18, HLTS, HLTRS, SRY-box 18, SRY-box transcription factor 18
External IDs	OMIM: 601618; MGI: 103559; HomoloGene: 7546; GeneCards: SOX18; OMA:SOX18 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 64,047,582 bp[1] End 64,049,639 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 103.71 cM Start 181,311,629 bp[2] End 181,313,433 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart right lung left uterine tube right auricle of heart right lobe of thyroid gland left ventricle right coronary artery gastric mucosa body of uterus left coronary artery Top expressed in interventricular septum glomerular capillary right lung endothelial cell of lymphatic vessel left lung right lung lobe external carotid artery left lung lobe lactiferous gland internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process hair follicle development establishment of endothelial barrier hair cycle process regulation of transcription, DNA-templated stem cell fate specification lymphangiogenesis blood vessel endothelial cell migration lymphatic endothelial cell differentiation endocardium formation outflow tract morphogenesis mRNA transcription by RNA polymerase II in utero embryonic development negative regulation of transcription by RNA polymerase II cell maturation endocardial cell differentiation lymph vessel development transcription, DNA-templated embryonic heart tube development vasculogenesis positive regulation of transcription, DNA-templated heart looping heart development vasculature development blood vessel development angiogenesis negative regulation of transcription, DNA-templated regulation of stem cell proliferation positive regulation of transcription by RNA polymerase II cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54345 20672 Ensembl ENSG00000203883 ENSMUSG00000046470 UniProt P35713 P43680 RefSeq (mRNA) NM_018419 NM_009236 RefSeq (protein) NP_060889 NP_033262 Location (UCSC) Chr 20: 64.05 – 64.05 Mb Chr 2: 181.31 – 181.31 Mb PubMed search [3] [4]
Wikidata
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Function

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 (HLTS).^[7][6] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS).^[8][9]

Interactions

SOX18 has been shown to interact with:

MEF2C^[10]

RBPJ^[11]

See also

• SOX genes