| Primary Identifier | MGI:88455 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 12827 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable molecular adaptor activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Involved in DNA-templated transcription and cellular response to transforming growth factor beta stimulus. Acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including blastocyst; eye; genitourinary system; lung; and oral region epithelium. Human ortholog(s) of this gene implicated in atherosclerosis; brain small vessel disease 2; porencephaly; and uterine fibroid. Orthologous to human COL4A2 (collagen type IV alpha 2 chain). PHENOTYPE: ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. [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
