| Primary Identifier | MGI:1337994 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12042 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables CARD domain binding activity and identical protein binding activity. Involved in several processes, including antifungal innate immune response; neural tube closure; and non-canonical NF-kappaB signal transduction. Acts upstream of or within several processes, including cellular defense response; lymphocyte apoptotic process; and regulation of signal transduction. Located in cytosol; immunological synapse; and membrane raft. Part of CBM complex and polkadots. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and vibrissa follicle. Human ortholog(s) of this gene implicated in extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue; immunodeficiency 37; malignant mesothelioma; and non-Hodgkin lymphoma. Orthologous to human BCL10 (BCL10 immune signaling adaptor). PHENOTYPE: About one-third of homozygous null embryos die exhibiting exencephaly. Surviving mutants display immunological defects including severe immunodeficiency, abnormal B cell development and function, and impaired humoral response to bacterial infection. [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
