AICDA
Single-stranded DNA cytosine deaminase
Also known as: AICDA_HUMAN, AID, ARP2, CDA2, HIGM2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9GZX7
- Gene
- AICDA
- Ensembl
- ENSG00000111732
- Chromosome
- 12
- Canonical length
- 198 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
198 residues, UniProt reviewed canonical sequence.
>Q9GZX7|AICDA
1 MDSLLMNRRK FLYQFKNVRW AKGRRETYLC YVVKRRDSAT SFSLDFGYLR NKNGCHVELL
61 FLRYISDWDL DPGRCYRVTW FTSWSPCYDC ARHVADFLRG NPNLSLRIFT ARLYFCEDRK
121 AEPEGLRRLH RAGVQIAIMT FKDYFYCWNT FVENHERTFK AWEGLHENSV RLSRQLRRIL
181 LPLYEVDDLR DAFRTLGLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AICDA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- lymph node: 11 nTPM
- tonsil: 8.8 nTPM
- appendix: 2.9 nTPM
- skeletal muscle: 1.5 nTPM
- small intestine: 0.7 nTPM
- gallbladder: 0.4 nTPM
Single-cell type
- paneth cells: 3.9 nCPM
- fibro-adipogenic progenitors: 2.5 nCPM
- enterocytes: 2.2 nCPM
- b-cells: 1.8 nCPM
- undifferentiated spermatogonia: 0.9 nCPM
- fibroblasts: 0.7 nCPM
Immune cell
- naive B-cell: 2.1 nTPM
- memory B-cell: 1.3 nTPM
- neutrophil: 0.5 nTPM
- basophil: 0.4 nTPM
- classical monocyte: 0.2 nTPM
- plasmacytoid DC: 0.2 nTPM
Brain region
- cerebral cortex: 1.4 nTPM
- white matter: 1.3 nTPM
- midbrain: 1.2 nTPM
- cerebellum: 0.9 nTPM
- pons: 0.8 nTPM
- thalamus: 0.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AICDA.
Disease | AllUniProt
Conditions AICDA is implicated in, by any mechanism.
- Immunodeficiency with hyper-IgM 2 (HIGM2) MIM:605258
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 296 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hyper-IgM syndrome type 2
- AICDA-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.33
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.34
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- B cell differentiation
- cellular response to lipopolysaccharide
- cytidine to uridine editing
- defense response to bacterium
- defense response to virus
- DNA cytosine deamination
- isotype switching
- mRNA processing
- negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
- positive regulation of gene expression via chromosomal CpG island demethylation
- regulation of nuclear cell cycle DNA replication
- somatic diversification of immunoglobulins
- somatic hypermutation of immunoglobulin genes
Molecular functions
- cytidine deaminase activity
- identical protein binding
- RNA binding
- ubiquitin protein ligase binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cytidine and deoxycytidylate deaminase domain
- APOBEC/CMP deaminase, zinc-binding
- Cytidine deaminase-like
- APOBEC Cytidine Deaminase
- Activation-induced cytidine deaminase AID
- Activation-induced cytidine deaminase (AID)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AICDA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AICDA as an antibody target. Whether an autoantibody or antibody against AICDA could matter depends on whether native AICDA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AICDA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AICDA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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