AICDA

Chr 12

activation induced cytidine deaminase

Also known as: AID, ARP2, CDA2, HEL-S-284, HIGM2

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency with hyper-IgM 2

Clinical highlights

Gene-disease validity (ClinGen)
hyper-IgM syndrome type 2 · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
0
Active trials
29
Pubs (1 yr)
P/LP submissions
P/LP missense
1.33
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — AICDA
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.000
Z-score 0.75
OE 0.76 (0.461.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.34Z-score
OE missense 0.67 (0.570.80)
89 obs / 132.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.461.33)
00.351.4
Missense OE?0.67 (0.570.80)
00.61.4
Synonymous OE?1.23
01.21.6
LoF obs/exp: 9 / 11.8Missense obs/exp: 89 / 132.3Syn Z: -1.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AICDA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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