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AICDA

Chr 12p13.31

activation induced cytidine deaminase

Aliases:
HIGM2, CDA2, ARP2, AID
MANE:
ENST00000229335.11

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Infantile enterocolitis & monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Gastrointestinal epithelial barrier disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hyper-IgM syndrome type 2

    0.83
  • hereditary disease

    0.19
  • B-cell chronic lymphocytic leukemia

    0.12
  • diffuse large B-cell lymphoma

    0.11
  • acute lymphoblastic leukemia

    0.11
  • cancer

    0.11
  • infection

    0.10
  • myeloid sarcoma

    0.10
  • lymphoma

    0.09
  • Alzheimer disease

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Single-stranded DNA cytosine deaminase

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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.