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Aliases for AICDA Gene

Aliases for AICDA Gene

  • Activation Induced Cytidine Deaminase 2 3 5
  • Activation-Induced Cytidine Deaminase 2 4
  • Cytidine Aminohydrolase 3 4
  • AID 3 4
  • 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 61
  • 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 Hyperimmunoglobulin Syndrome. 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 APOBEC3G.

UniProtKB/Swiss-Prot for AICDA Gene

  • 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) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894).

Gene Wiki entry for AICDA Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G008610 1.2 FANTOM5 ENCODE 8 +1.6 1632 1.3 HDGF TBP PKNOX1 TBL1XR1 ZSCAN4 WRNIP1 SIN3A BMI1 TCF12 ZNF766 CLEC4E AICDA ENSG00000252727
GH12G008609 1 Ensembl ENCODE 0.7 +3.5 3488 0.8 CTCF WRNIP1 BMI1 RAD21 CBX5 POLR2A EED SCRT2 ZNF143 SMC3 CLEC4E A2ML1 A2ML1-AS2 KLRB1 AICDA ENSG00000252727
GH12G008617 1.4 FANTOM5 Ensembl ENCODE 0.4 -6.0 -6006 2.7 PKNOX1 BMI1 ZBTB40 GTF3C2 GATA2 FOS RELB IKZF2 CEBPB JUNB CLEC4E LOC642846 DDX12P M6PR LINC00612 ENSG00000255753 A2ML1 A2ML1-AS2 CLEC6A CLEC4A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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.

    Three dimensional structures from OCA and Proteopedia for AICDA Gene

    Alternative splice isoforms for AICDA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AICDA Gene

Selected DME Specific Peptides for AICDA Gene

Q9GZX7:
  • FTSWSPC
  • RQLRRILLPLYEVDDLRDAFR

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

Domains & Families for AICDA Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZX7

UniProtKB/Swiss-Prot:

AICDA_HUMAN :
  • Belongs to the cytidine and deoxycytidylate deaminase family.
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 (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) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894).
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 IEA --
GO:0004126 cytidine deaminase activity NAS 10950930
GO:0005515 protein binding IPI 18722174
GO:0008270 zinc ion binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AICDA

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. {ECO:0000269 PubMed:21385873}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AICDA gene
Compartment Confidence
nucleus 5
plasma membrane 2
mitochondrion 2
cytosol 2
extracellular 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,IEA 14769937
GO:0005737 cytoplasm IDA,IEA 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: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

Drugs & Compounds for AICDA Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Cytidine Experimental Pharma 0
deoxycytidine Experimental Pharma 0
Deoxyuridine Experimental Pharma 5
Uridine Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AICDA

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for AICDA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AICDA Gene:

AICDA

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.

Evidence on tissue expression from TISSUES for AICDA Gene

  • Lymph node(2.9)
  • Blood(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AICDA Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • respiratory
Organs:
Thorax:
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • bone marrow
  • lymph node
  • white blood cell
genes like me logo Genes that share expression patterns with AICDA: view

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
chimpanzee
(Pan troglodytes)
Mammalia AICDA 34 35
  • 99.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AICDA 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AICDA 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AICDA 34 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia aicda 34
  • 88.22 (n)
cow
(Bos Taurus)
Mammalia AICDA 34 35
  • 87.54 (n)
mouse
(Mus musculus)
Mammalia Aicda 34 16 35
  • 87.04 (n)
chicken
(Gallus gallus)
Aves AICDA 34 35
  • 80.47 (n)
lizard
(Anolis carolinensis)
Reptilia AICDA 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497606 34
  • 69.36 (n)
zebrafish
(Danio rerio)
Actinopterygii aicda 34 35
  • 62.27 (n)
Species where no ortholog for AICDA was found in the sources mined by GeneCards:
  • 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

Variants for AICDA Gene

Sequence variations from dbSNP and Humsavar for AICDA Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs104894320 Pathogenic, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,605,404(-) TCACC(C/T)GGTTC reference, missense
rs104894321 Pathogenic, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,605,325(-) CAGTC(C/T)GAGGA reference, missense
rs104894322 Pathogenic, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,605,227(-) CCATC(A/G)TGACC reference, missense
rs104894324 Pathogenic, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,606,951(-) AGGGT(C/T)GGCGT reference, missense
rs104894327 Pathogenic, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,604,898(-) TACTT(C/T)TGTAG intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1362n100 CNV gain 25217958
nsv1051530 CNV gain 25217958
nsv1113457 CNV deletion 24896259
nsv527782 CNV gain 19592680
nsv557342 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AICDA

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

Disorders for AICDA Gene

MalaCards: The human disease database

(14) 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
hyperimmunoglobulin syndrome
immunodeficiency with hyper-igm, type 3
  • cd40 deficiency
immunodeficiency, x-linked, with hyper-igm
  • immunodeficiency with hyper-igm, type 1
burkitt lymphoma
  • burkitt's lymphoma
- 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, ECO:0000269 PubMed:14962793, ECO:0000269 PubMed:23803409, ECO:0000269 PubMed:26545377, ECO:0000269 PubMed:27716525}. 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 22 46 64
  2. No association between AICDA 7888 C/T polymorphism, Helicobacter pylori seropositivity, and the risk of atrophic gastritis and gastric cancer in Japanese. (PMID: 20373075) Hishida A. … Hamajima N. (Gastric Cancer 2010) 3 22 46 64
  3. Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1. (PMID: 18722174) Conticello S.G. … Neuberger M.S. (Mol. Cell 2008) 3 4 22 64
  4. 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 22 64
  5. 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 22 46 64

Products for AICDA Gene

  • Addgene plasmids for AICDA

Sources for AICDA Gene

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