Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57379
Gene name Gene Name - the full gene name approved by the HGNC.
Activation induced cytidine deaminase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AICDA
Synonyms (NCBI Gene) Gene synonyms aliases
AID, ARP2, CDA2, HEL-S-284, HIGM2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HIGM2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez 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, a
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
TCF3 Unknown 18203819
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IBA 21873635
GO:0003723 Function RNA binding IBA 21873635
GO:0004126 Function Cytidine deaminase activity IBA 21873635
GO:0004126 Function Cytidine deaminase activity IDA 18722174
GO:0004126 Function Cytidine deaminase activity NAS 10950930
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605257 13203 ENSG00000111732
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
26830138
Autoimmune diseases Autoimmune Diseases rs869025224 21305519
Hyper-igm syndrome Hyper-IgM syndrome type 2 rs104894324, rs104894325, rs104894321, rs104894322, rs104894323, rs104894327, rs387906328, rs387906329, rs104894380, rs2145595063, rs28931586, rs1568906348, rs1568905451, rs193922703, rs786205474
View all (8 more)
Unknown
Disease term Disease name Evidence References Source
Hyperimmunoglobulin m syndrome Hyperimmunoglobulin M syndrome ClinVar
Associations from Text Mining
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