| Primary Identifier | MGI:103559 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20672 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) 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). PHENOTYPE: Homozygotes for some mutant alleles show low prenatal viability and cardiovascular defects. Most mutants show darkened coats, reduced zigzag hairs and, depending on the allele, sparse abnormal hair and edema. Heterozygotes show similar or milder defects. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
