AICDA Chromosome 12
Activation induced cytidine deaminase
Upload your DNA to see your personal genotypes for variants in AICDA.
What This Gene Does
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]
Gene Info
Gene Group
Apolipoprotein B mRNA editing enzyme catalytic subunits
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000111732
Associated Conditions (2)
Hyper-IgM syndrome type 2
AICDA-related disorder
Key Variants
RS186739900
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS193922704
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS201180477
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS201210527
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 2, AICDA-related disorder, Hyper-IgM syndrome type 2
Health Risk
RS762590894
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS999930122
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS1057519097
Likely pathogenic
Health Risk
RS1591744217
Likely pathogenic
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS2136433359
Likely pathogenic
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS2540251593
Likely pathogenic
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS2540259760
Likely pathogenic
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
Health Risk
RS766361035
Likely pathogenic
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186739900 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS193922704 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS201180477 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS201210527 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 2, AICDA-related disorder, Hyper-IgM syndrome type 2 |
| RS762590894 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS999930122 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS1057519097 | Health Risk | Likely pathogenic | — |
| RS1591744217 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS2136433359 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS2540251593 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS2540259760 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS766361035 | Health Risk | Likely pathogenic | — |
| RS772388034 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS773521793 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS886923939 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894321 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894322 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894323 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894324 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894325 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894327 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS1057520542 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, AICDA-related disorder, Hyper-IgM syndrome type 2 |
| RS1268237441 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS200858797 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS387906328 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS387906329 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS757606065 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS777729620 | Health Risk | Pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS1227905250 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS1260264247 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 2, AICDA-related disorder, Hyper-IgM syndrome type 2 |
| RS193922703 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS2136431608 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS769399833 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS786205474 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |