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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 56
  • 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 Allograft rejection and IL4-mediated signaling events. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for AICDA Gene

Promoters and enhancers for AICDA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I008610 Enhancer 1.1 FANTOM5 ENCODE 558 +1.6 1631 1.3 HDGF PKNOX1 ZSCAN4 BMI1 BATF IRF4 TCF12 ZNF766 ATF7 ETV6 AICDA CLEC4E ENSG00000252727
GH12I008612 Promoter 0.9 EPDnew 550.8 +0.0 9 0.1 PKNOX1 SMAD5 EBF1 BATF POLR2A BCL11A NBN MLLT1 BCLAF1 AICDA CLEC4E ENSG00000252727
GH12I008609 Enhancer 0.9 Ensembl ENCODE 0.8 +3.5 3487 0.8 CTCF BMI1 RAD21 POLR2A SCRT2 SMC3 ZNF143 BCLAF1 IKZF2 MIXL1 CLEC4E A2ML1 A2ML1-AS2 KLRB1 AICDA ENSG00000252727
GH12I008617 Enhancer 1.2 FANTOM5 Ensembl ENCODE 0.4 -6.0 -6006 2.7 PKNOX1 JUN CEBPG BMI1 BATF GTF3C2 FOSL1 ATF7 FOSL2 IKZF2 CLEC4E A2ML1 A2ML1-AS2 CLEC6A M6PR CLEC4A CLEC4D GC12P008623 AICDA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AICDA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AICDA gene promoter:

Genomic Locations for AICDA Gene

Genomic Locations for AICDA Gene
chr12:8,602,166-8,612,888
(GRCh38/hg38)
Size:
10,723 bases
Orientation:
Minus strand
chr12:8,754,762-8,765,467
(GRCh37/hg19)

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.

Domains & Families for AICDA Gene

Gene Families for AICDA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog 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 16387847
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

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 IEA,IDA 14769937
GO:0005737 cytoplasm IDA,IEA 14769937
genes like me logo Genes that share ontologies with AICDA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AICDA Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Water Approved Pharma 0
Cytidine Experimental Pharma 0
deoxycytidine Experimental, Investigational Pharma 0
Deoxyuridine Experimental Pharma 6

(4) Additional Compounds for AICDA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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(2.7)

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

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 33 34
  • 99.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AICDA 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AICDA 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AICDA 33 34
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia aicda 33
  • 88.22 (n)
cow
(Bos Taurus)
Mammalia AICDA 33 34
  • 87.54 (n)
mouse
(Mus musculus)
Mammalia Aicda 33 16 34
  • 87.04 (n)
chicken
(Gallus gallus)
Aves AICDA 33 34
  • 80.47 (n)
lizard
(Anolis carolinensis)
Reptilia AICDA 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497606 33
  • 69.36 (n)
zebrafish
(Danio rerio)
Actinopterygii aicda 33 34
  • 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 Variation AA Info Type
rs1025106879 uncertain-significance, Immunodeficiency with Hyper-IgM 8,603,730(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1042939030 uncertain-significance, Immunodeficiency with Hyper-IgM 8,603,996(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1044874640 uncertain-significance, Immunodeficiency with Hyper-IgM 8,603,022(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs104894320 pathogenic, Immunodeficiency with hyper IgM type 2, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,605,404(-) A/G coding_sequence_variant, missense_variant
rs104894321 pathogenic, Immunodeficiency with hyper IgM type 2, Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] 8,605,325(-) A/G coding_sequence_variant, missense_variant

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)

Additional Variant Information 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

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

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.

Additional Disease Information for AICDA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of allergy and clinical immunology 2001) 3 4 22 44 58
  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 : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2010) 3 22 44 58
  3. Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1. (PMID: 18722174) Conticello SG … Neuberger MS (Molecular cell 2008) 3 4 22 58
  4. Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. (PMID: 14769937) Ito S … Honjo T (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
  5. Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma. (PMID: 12973929) Cui T … Xie J (Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2003) 3 22 44 58

Products for AICDA Gene

Sources for AICDA Gene

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