| Primary Identifier | MGI:102469 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 18018 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and mitogen-activated protein kinase p38 binding activity. Involved in heart development and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; leukocyte differentiation; and regulation of gene expression. Part of transcription regulator complex. Is active in cytoplasm and nucleus. Is expressed in several structures, including eye; genitourinary system; heart; hemolymphoid system; and limb mesenchyme. Human ortholog(s) of this gene implicated in congenital heart disease and ventricular septal defect. Orthologous to human NFATC1 (nuclear factor of activated T cells 1). PHENOTYPE: Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. Homozygosity for sumoylation-blocking mutations leads to increased resistance to autoimmunity and alloreactivity. [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
