Gene Gene information from NCBI Gene database.
Entrez ID 57379
Gene name Activation induced cytidine deaminase
Gene symbol AICDA
Synonyms (NCBI Gene)
AIDARP2CDA2HEL-S-284HIGM2
Chromosome 12
Chromosome location 12p13.31
Summary 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, a
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs104894320 A>G Pathogenic Coding sequence variant, missense variant
rs104894321 A>G Pathogenic Coding sequence variant, missense variant
rs104894322 T>C Pathogenic Coding sequence variant, missense variant
rs104894323 G>T Pathogenic Coding sequence variant, intron variant, stop gained
rs104894324 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
224
miRTarBase ID miRNA Experiments Reference
MIRT628943 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT628942 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT628941 hsa-miR-6873-3p HITS-CLIP 23824327
MIRT628940 hsa-miR-4753-3p HITS-CLIP 23824327
MIRT628939 hsa-miR-4768-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TCF3 Unknown 18203819
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IBA
GO:0003723 Function RNA binding IBA
GO:0003824 Function Catalytic activity IEA
GO:0004126 Function Cytidine deaminase activity IBA
GO:0004126 Function Cytidine deaminase activity IDA 18722174
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605257 13203 ENSG00000111732
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZX7
Protein name Single-stranded DNA cytosine deaminase (EC 3.5.4.38) (Activation-induced cytidine deaminase) (AID) (Cytidine aminohydrolase)
Protein function 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) regi
PDB 5JJ4 , 5W0R , 5W0U , 5W0Z , 5W1C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18772 APOBEC2 6 181 Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in lymph nodes and tonsils. {ECO:0000269|PubMed:23166356}.
Sequence
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Intestinal immune network for IgA production
Primary immunodeficiency
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
245
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AICDA-related disorder Pathogenic; Likely pathogenic rs1057520542, rs1260264247 RCV003912638
RCV003405393
Hyper-IgM syndrome type 2 Likely pathogenic; Pathogenic rs772388034, rs2136431608, rs2136433359, rs2540251593, rs777729620, rs786205474, rs773521793, rs104894324, rs104894325, rs104894321, rs104894322, rs104894323, rs104894327, rs387906328, rs387906329
View all (12 more)
RCV001969612
RCV003232560
RCV002244226
RCV003037443
RCV003037444
RCV003987400
RCV002631527
RCV000005429
RCV000005430
RCV000005432
RCV000005433
RCV000005434
RCV000005435
RCV000005436
RCV000005437
RCV003486494
RCV003613946
RCV000808983
RCV000029303
RCV001043961
RCV001385304
RCV000988783
RCV000991445
RCV001869384
RCV001070577
RCV001222115
RCV001208331
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperimmunoglobulin M syndrome Benign; Uncertain significance; Conflicting classifications of pathogenicity rs5796316, rs201738977, rs755095913, rs1345004 RCV001844123
RCV001844121
RCV001844122
RCV001844124
RCV001844156
Lung cancer Likely benign rs77429608 RCV005911422
Malignant tumor of esophagus Likely benign rs77429608 RCV005911419
Sarcoma Likely benign rs77429608 RCV005911420
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 11724784, 12563035, 35246784
Arthritis Juvenile Associate 19703021
Arthritis Rheumatoid Associate 19703021, 20491788
Autoimmune Diseases Associate 21700883, 21984922, 27527602, 28333576
Barrett Esophagus Associate 21890457
Brain Neoplasms Associate 23408445
Breast Neoplasms Associate 16618718, 21831295
Bruton type agammaglobulinemia Associate 33377626
Burkitt Lymphoma Associate 15304391, 15593119, 19734146, 21831295, 25099163, 27217538, 32843697, 35503749
Burkitt Lymphoma Stimulate 40085439