Aliases for AICDA Gene
External Ids for AICDA Gene
Previous GeneCards Identifiers for AICDA Gene
This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]
GeneCards Summary for AICDA Gene
AICDA (Activation Induced Cytidine Deaminase) is a Protein Coding gene. Diseases associated with AICDA include Immunodeficiency With Hyper-Igm, Type 2 and Immunodeficiency With Hyper-Igm, Type 1. Among its related pathways are IL4-mediated signaling events and Allograft rejection. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and cytidine deaminase activity. An important paralog of this gene is APOBEC3B.
UniProtKB/Swiss-Prot Summary for AICDA Gene
Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894).