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Aliases for AICDA Gene

Aliases for AICDA Gene

  • Activation-Induced Cytidine Deaminase 2 3 4 5
  • Cytidine Aminohydrolase 3 4
  • AID 3 4
  • Integrated Into Burkitts Lymphoma Cell Line Ramos 3
  • Epididymis Secretory Protein Li 284 3
  • EC 3.5.4.38 4
  • EC 3.5.4.5 63
  • HEL-S-284 3
  • HIGM2 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 Cd40 Deficiency. Among its related pathways are IL4-mediated signaling events and NF-kappaB Signaling. GO annotations related to this gene include ubiquitin protein ligase binding and 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

Enhancers for AICDA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AICDA on UCSC Golden Path with GeneCards custom track

Genomic Location for AICDA Gene

Chromosome:
12
Start:
8,602,166 bp from pter
End:
8,612,888 bp from pter
Size:
10,723 bases
Orientation:
Minus strand

Genomic View for AICDA Gene

Genes around AICDA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AICDA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AICDA (AID)

Domains & Families for AICDA Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZX7

UniProtKB/Swiss-Prot:

AICDA_HUMAN :
  • Contains 1 CMP/dCMP-type deaminase domain.
  • Belongs to the cytidine and deoxycytidylate deaminase family.
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:0005515 protein binding IPI 18722174
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with AICDA: view
genes like me logo Genes that share phenotypes with AICDA: view

Human Phenotype Ontology for AICDA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AICDA Gene

MGI Knock Outs for AICDA:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets 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 2

Gene Ontology (GO) - Cellular Components for AICDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 14769937
genes like me logo Genes that share ontologies with AICDA: view

Pathways & Interactions for AICDA Gene

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

Pathways by source for AICDA Gene

1 Cell Signaling Technology pathway for AICDA Gene
1 BioSystems pathway for AICDA Gene

SIGNOR curated interactions for AICDA Gene

Other effect:

Gene Ontology (GO) - Biological Process for AICDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009972 cytidine deamination IEA --
GO:0016446 somatic hypermutation of immunoglobulin genes IMP 21518874
GO:0030183 B cell differentiation NAS 11007475
GO:0045190 isotype switching IEA --
GO:0071222 cellular response to lipopolysaccharide IEA --
genes like me logo Genes that share ontologies with AICDA: view

Drugs & Compounds for AICDA Gene

(6) Drugs for AICDA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine Experimental Pharma 0
deoxycytidine Experimental Pharma 0
deoxyuridine Experimental Pharma 0
Uridine Experimental Pharma 0

(6) Additional Compounds for AICDA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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

Protein differential expression in normal tissues from HIPED for AICDA Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AICDA: view

Protein tissue co-expression partners for AICDA Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia AICDA 35
  • 99.33 (n)
  • 99.49 (a)
AICDA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia aicda 35
  • 88.22 (n)
  • 93.94 (a)
oppossum
(Monodelphis domestica)
Mammalia AICDA 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AICDA 36
  • 93 (a)
OneToOne
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
VAR_013774 Immunodeficiency with hyper-IgM 2 (HIGM2)
VAR_013775 Immunodeficiency with hyper-IgM 2 (HIGM2)
VAR_013776 Immunodeficiency with hyper-IgM 2 (HIGM2)
VAR_013777 Immunodeficiency with hyper-IgM 2 (HIGM2)
VAR_013778 Immunodeficiency with hyper-IgM 2 (HIGM2)

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

Variant ID Type Subtype PubMed ID
nsv527782 CNV Gain 19592680

Variation tolerance for AICDA Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AICDA Gene

Human Gene Mutation Database (HGMD)
AICDA

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

Disorders for AICDA Gene

MalaCards: The human disease database

(13) MalaCards diseases for AICDA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency with hyper-igm, type 2
  • immunodeficiency with hyper igm type 2
cd40 deficiency
  • type 3 hyper-igm immunodeficiency
burkitt lymphoma
  • burkitt's lymphoma
immunodeficiency, x-linked, with hyper-igm
  • immunodeficiency with hyper igm type 1
follicular lymphoma
  • lymphoma, follicular
- elite association - COSMIC cancer census association via MalaCards
Search AICDA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AICDA

Genetic Association Database (GAD)
AICDA
Human Genome Epidemiology (HuGE) Navigator
AICDA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AICDA
genes like me logo Genes that share disorders with AICDA: view

No data available for Genatlas for AICDA Gene

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 67
  2. AID protein expression in chronic lymphocytic leukemia/small lymphocytic lymphoma is associated with poor prognosis and complex genetic alterations. (PMID: 19898425) Leuenberger M. … Tinguely M. (Mod. Pathol. 2010) 3 23
  3. B cell-specific and stimulation-responsive enhancers derepress Aicda by overcoming the effects of silencers. (PMID: 19966806) Tran T.H. … Nagaoka H. (Nat. Immunol. 2010) 3 23
  4. Altering the spectrum of immunoglobulin V gene somatic hypermutation by modifying the active site of AID. (PMID: 20048284) Wang M. … Neuberger M.S. (J. Exp. Med. 2010) 3 23
  5. Activation-induced cytidine deaminase splicing patterns in chronic lymphocytic leukemia. (PMID: 20117026) Marantidou F. … Patsouris E. (Blood Cells Mol. Dis. 2010) 3 23

Products for AICDA Gene

Sources for AICDA Gene

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