AICDA

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).

Immunodeficiency with hyper-IgM 2

HIGM2

A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

None

The disease is caused by variants affecting the gene represented in this entry.

Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its class-switch recombination activity.

Probably monoubiquitinated on several residues by RNF126.

Belongs to the cytidine and deoxycytidylate deaminase family.

Strongly expressed in lymph nodes and tonsils.

• Nucleus
• Cytoplasm
• Cytosol
• Predominantly cytosolic (PubMed:21385873). In the presence of MCM3AP/GANP, relocalizes to the nucleus (By similarity).

AID, AICDA, Single-stranded DNA cytosine deaminase, Activation-induced cytidine deaminase, Cytidine aminohydrolase

• entrezGene:57379
• omim:605257
• swissprot:Q9GZX7

Proteins

Epigenetics

23954Da