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Aliases for AICDA Gene

Aliases for AICDA Gene

  • Activation-Induced Cytidine Deaminase 2 3 4
  • AID 3 4 6
  • Cytidine Aminohydrolase 3 4
  • HIGM2 3 6
  • Integrated Into Burkitts Lymphoma Cell Line Ramos 3
  • Single-Stranded DNA Cytosine Deaminase 3
  • Epididymis Secretory Protein Li 284 3
  • EC 3.5.4.38 4
  • EC 3.5.4.5 63
  • HEL-S-284 3
  • ARP2 3
  • CDA2 3

External Ids for AICDA Gene

Previous GeneCards Identifiers for AICDA Gene

  • GC12M008462
  • GC12M008902
  • GC12M008655
  • GC12M008646
  • GC12M008754
  • GC12M008537

Summaries for AICDA Gene

Entrez Gene Summary for AICDA Gene

  • This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]

GeneCards Summary for AICDA Gene

AICDA (Activation-Induced Cytidine Deaminase) is a Protein Coding gene. Diseases associated with AICDA include immunodeficiency with hyper-igm, type 2 and splenic marginal zone lymphoma. Among its related pathways are IL4-mediated signaling events and Allograft rejection. GO annotations related to this gene include cytidine deaminase activity. An important paralog of this gene is APOBEC3C.

UniProtKB/Swiss-Prot for AICDA Gene

  • Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.

Gene Wiki entry for AICDA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AICDA Gene

Genomics for AICDA Gene

Regulatory Elements for AICDA Gene

Genomic Location for AICDA Gene

Start:
8,602,166 bp from pter
End:
8,612,871 bp from pter
Size:
10,706 bases
Orientation:
Minus strand

Genomic View for AICDA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AICDA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AICDA Gene

Proteins for AICDA Gene

  • Protein details for AICDA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZX7-AICDA_HUMAN
    Recommended name:
    Single-stranded DNA cytosine deaminase
    Protein Accession:
    Q9GZX7
    Secondary Accessions:
    • Q6QJ81
    • Q8NFC1

    Protein attributes for AICDA Gene

    Size:
    198 amino acids
    Molecular mass:
    23954 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA. Interacts (via its NLS) with KPNA1. Interacts with PKA/PRKACA and PRKAR1A/PKR1. Interacts with TRIM28 and NCL (By similarity). Interacts with SUPT6H. Interacts with RNF126.

    Alternative splice isoforms for AICDA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AICDA Gene

Proteomics data for AICDA Gene at MOPED

Selected DME Specific Peptides for AICDA Gene

Post-translational modifications for AICDA Gene

  • Probably monoubiquitinated on several residues by RNF126.
  • Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its class-switch recombination activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AICDA Gene

Domains for AICDA Gene

Gene Families for AICDA Gene

HGNC:
  • APOBEC :Apolipoprotein B mRNA editing enzymes

Graphical View of Domain Structure for InterPro Entry

Q9GZX7

UniProtKB/Swiss-Prot:

AICDA_HUMAN :
  • Q9GZX7
Domain:
  • Contains 1 CMP/dCMP-type deaminase domain.
Family:
  • Belongs to the cytidine and deoxycytidylate deaminase family.
genes like me logo Genes that share domains with AICDA: view

Function for AICDA Gene

Molecular function for AICDA Gene

UniProtKB/Swiss-Prot CatalyticActivity: Cytosine in single-stranded DNA + H(2)O = uracil in single-stranded DNA + NH(3)
UniProtKB/Swiss-Prot Function: Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.
UniProtKB/Swiss-Prot Induction: Negatively regulated by microRNA-155 (miR-155).

Enzyme Numbers (IUBMB) for AICDA Gene

Gene Ontology (GO) - Molecular Function for AICDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004126 cytidine deaminase activity NAS 10950930
GO:0005515 protein binding IPI 18722174
GO:0008270 zinc ion binding IEA --
GO:0016814 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines --
genes like me logo Genes that share ontologies with AICDA: view
genes like me logo Genes that share phenotypes with AICDA: view

Animal Models for AICDA Gene

MGI Knock Outs for AICDA:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for AICDA Gene

Localization for AICDA Gene

Subcellular locations from UniProtKB/Swiss-Prot for AICDA Gene

Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AICDA Gene COMPARTMENTS Subcellular localization image for AICDA gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AICDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000178 colocalizes_with exosome (RNase complex) IDA 21255825
GO:0005634 nucleus IDA 14769937
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with AICDA: view

Pathways for AICDA Gene

genes like me logo Genes that share pathways with AICDA: view

Gene Ontology (GO) - Biological Process for AICDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0009972 cytidine deamination IEA --
GO:0016445 somatic diversification of immunoglobulins IDA 18722174
GO:0016446 somatic hypermutation of immunoglobulin genes IMP 21518874
GO:0030183 B cell differentiation NAS 11007475
genes like me logo Genes that share ontologies with AICDA: view

Compounds for AICDA Gene

(2) HMDB Compounds for AICDA Gene

Compound Synonyms Cas Number PubMed IDs
Cytidine
  • 1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine
65-46-3
dCMP
  • 2'-Deoxycytidine 5'-monophosphate
1032-65-1

(9) Novoseek inferred chemical compound relationships for AICDA Gene

Compound -log(P) Hits PubMed IDs
cytidine 98.1 145
cytosine 76 31
deoxycytosine 66.4 2
deoxycytidine 63.2 10
deoxyuridine 51.1 4
genes like me logo Genes that share compounds with AICDA: view

Transcripts for AICDA Gene

Unigene Clusters for AICDA Gene

Activation-induced cytidine deaminase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AICDA Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4
SP1:
SP2: -
SP3: - -
SP4: - - -

Relevant External Links for AICDA Gene

GeneLoc Exon Structure for
AICDA
ECgene alternative splicing isoforms for
AICDA

Expression for AICDA Gene

mRNA expression in normal human tissues for AICDA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AICDA Gene

SOURCE GeneReport for Unigene cluster for AICDA Gene Hs.149342

mRNA Expression by UniProt/SwissProt for AICDA Gene

Q9GZX7-AICDA_HUMAN
Tissue specificity: Strongly expressed in lymph nodes and tonsils.
genes like me logo Genes that share expressions with AICDA: view

No data available for mRNA differential expression in normal tissues for AICDA Gene

Orthologs for AICDA Gene

This gene was present in the common ancestor of chordates.

Orthologs for AICDA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AICDA 35
  • 99.33 (n)
  • 99.49 (a)
AICDA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AICDA 35
  • 87.54 (n)
  • 94.44 (a)
AICDA 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AICDA 35
  • 88.89 (n)
  • 94.95 (a)
AICDA 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aicda 35
  • 87.04 (n)
  • 92.42 (a)
Aicda 16
Aicda 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AICDA 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AICDA 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia aicda 35
  • 88.22 (n)
  • 93.94 (a)
chicken
(Gallus gallus)
Aves AICDA 35
  • 80.47 (n)
  • 89.9 (a)
AICDA 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AICDA 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497606 35
  • 69.36 (n)
  • 70.2 (a)
zebrafish
(Danio rerio)
Actinopterygii aicda 35
  • 62.27 (n)
  • 64.47 (a)
aicda 36
  • 59 (a)
OneToOne
Species with no ortholog for AICDA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AICDA Gene

ENSEMBL:
Gene Tree for AICDA (if available)
TreeFam:
Gene Tree for AICDA (if available)

Paralogs for AICDA Gene

genes like me logo Genes that share paralogs with AICDA: view

Variants for AICDA Gene

Sequence variations from dbSNP and Humsavar for AICDA Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs714629 -- 8,613,765(-) GCTTA(C/G)CATTG upstream-variant-2KB
rs714630 -- 8,613,789(-) GAGAG(A/C)AGAGA upstream-variant-2KB
rs1345004 -- 8,612,851(-) AGACT(A/G)AGACA upstream-variant-2KB
rs1347978 -- 8,609,257(-) GAAAA(C/G)TTTCA intron-variant
rs1439868 -- 8,609,709(-) CATGA(C/T)GCTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AICDA Gene

Variant ID Type Subtype PubMed ID
nsv527782 CNV Gain 19592680

Relevant External Links for AICDA Gene

HapMap Linkage Disequilibrium report
AICDA
Human Gene Mutation Database (HGMD)
AICDA
Locus Specific Mutation Databases (LSDB)
AICDA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AICDA Gene

Disorders for AICDA Gene

(1) OMIM Diseases for AICDA Gene (605257)

UniProtKB/Swiss-Prot

AICDA_HUMAN
  • Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. {ECO:0000269 PubMed:11007475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for AICDA Gene

(37) Novoseek inferred disease relationships for AICDA Gene

Disease -log(P) Hits PubMed IDs
higm2 92.1 7
hyper-igm syndrome 88.3 12
higm3 84 2
somatic mutations 64.9 13
nijmegen breakage syndrome 56.3 1

Relevant External Links for AICDA

Genetic Association Database (GAD)
AICDA
Human Genome Epidemiology (HuGE) Navigator
AICDA
genes like me logo Genes that share disorders with AICDA: view

Publications for AICDA Gene

  1. Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels. (PMID: 11544457) Noguchi E. … Arinami T. (J. Allergy Clin. Immunol. 2001) 3 4 23 48
  2. Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (hAID) gene. (PMID: 10950930) Muto T. … Honjo T. (Genomics 2000) 3 4 23
  3. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). (PMID: 11007475) Revy P. … Durandy A. (Cell 2000) 3 4 23
  4. Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma. (PMID: 12973929) Cui T. … Xie J. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2003) 3 23 48
  5. Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. (PMID: 14769937) Ito S. … Honjo T. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23

Products for AICDA Gene

  • Addgene plasmids for AICDA

Sources for AICDA Gene

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