Sox18 Gene Summary [Mouse]

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of DNA-templated transcription. Acts upstream of or within several processes, including circulatory system development; hair follicle development; and stem cell fate specification. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; integumental system; and urinary system. Human ortholog(s) of this gene implicated in hypotrichosis-lymphedema-telangiectasia syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. Orthologous to human SOX18 (SRY-box transcription factor 18). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Sox18
Official Name
SRY (sex determining region Y)-box 18 [Source:MGI Symbol;Acc:MGI:103559]
Ensembl ID
ENSMUSG00000046470
Bio databases IDs NCBI: 20672 Ensembl: ENSMUSG00000046470
Aliases SRY (sex determining region Y)-box 18
Synonyms HLTRS, HLTS, Ra, Ragl, SRY-box transcription factor 18, SRY (sex determining region Y)-box 18
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Sox18 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • activation domain
  • transcription regulator
  • nucleic acid binding
  • high mobility group (HMG)-box domain superfamily
  • transcription activation domain
  • protein binding
  • sequence-specific DNA binding
  • Sox 17/18 central domain
  • DNA binding
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • double-stranded DNA binding
  • HMG (high mobility group) box
  • HMG-box domain
  • high mobility group
  • transcription factor activity

Pathways

Biological processes and signaling networks where the Sox18 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • metastasis
  • hypotrichosis-lymphedema-telangiectasia syndrome
  • organismal death
  • uterine leiomyoma
  • leiomyomatosis
  • hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  • Klinefelter syndrome
regulated by
regulates
role in cell
  • expression in
  • proliferation
  • differentiation
  • invasiveness
  • metastatic potential
  • maturation
  • migratory capacity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Sox18 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of stem cell proliferation
  • outflow tract morphogenesis
  • stem cell fate specification
  • cell maturation
  • endocardial cell differentiation
  • vasculogenesis
  • hair cycle process
  • lymphatic endothelial cell differentiation
  • embryonic heart tube development
  • positive regulation of transcription from RNA polymerase II promoter
  • blood vessel endothelial cell migration
  • establishment of endothelial barrier
  • endocardium formation
  • negative regulation of transcription from RNA polymerase II promoter
  • hair follicle development
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • in utero embryonic development
  • angiogenesis
  • vasculature development
  • lymphangiogenesis
  • heart looping

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • transcription factor complex
  • chromatin

Molecular Function

What the gene product does at the molecular level
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • transcription regulatory region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • sequence-specific DNA binding RNA polymerase II transcription factor activity