Gene: AICDA
Alternate names for this Gene: AID|ARP2|CDA2|HEL-S-284|HIGM2
Gene Summary: 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).
Gene is located in Chromosome: 12
Location in Chromosome : 12p13.31
Description of this Gene: activation induced cytidine deaminase
Type of Gene: protein-coding
rs3794318 in
AICDA gene and
Alzheimer's Disease
PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.
rs104894320 in
AICDA gene and
Hyper-IgM Immunodeficiency Syndrome, Type 2
PMID 11007475 2000 Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
PMID 23803409 2013 A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.
PMID 14962793 2004 Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
PMID 27716525 2016 Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.
PMID 26545377 2016 Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.