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AICDA Gene

protein-coding   GIFtS: 65
GCID: GC12M008754

Activation-Induced Cytidine Deaminase

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Activation-Induced Cytidine Deaminase1 2 3     HEL-S-2842
AID2 3 5     Epididymis Secretory Protein Li 2842
Cytidine Aminohydrolase2 3     Integrated Into Burkitt'S Lymphoma Cell Line Ramos2
HIGM22 5     Single-Stranded DNA Cytosine Deaminase2
ARP22     EC 3.5.4.383
CDA22     EC 3.5.4.58

External Ids:    HGNC: 132031   Entrez Gene: 573792   Ensembl: ENSG000001117327   OMIM: 6052575   UniProtKB: Q9GZX73   

Export aliases for AICDA gene to outside databases

Previous GC identifers: GC12M008462 GC12M008902 GC12M008655 GC12M008646 GC12M008537


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 plasma cell neoplasm. GO annotations related to this gene include cytidine deaminase activity. An important paralog of this gene is APOBEC3G.

UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7
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

Gene Wiki entry for AICDA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009714.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the AICDA gene promoter:
         c-Fos   AP-1   NF-kappaB   HNF-1A   CREB   Max   deltaCREB   HSF2   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAICDA promoter sequence
   Search Chromatin IP Primers for AICDA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AICDA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M008754:  view genomic region     (about GC identifiers)

Start:
8,754,762 bp from pter      End:
8,765,467 bp from pter
Size:
10,706 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7 (See protein sequence)
Recommended Name: Single-stranded DNA cytosine deaminase  
Size: 198 amino acids; 23954 Da
Cofactor: Zinc (By similarity)
Subunit: 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
Secondary accessions: Q6QJ81 Q8NFC1
Alternative splicing: 2 isoforms:  Q9GZX7-1   Q9GZX7-2   

Explore the universe of human proteins at neXtProt for AICDA: NX_Q9GZX7

Explore proteomics data for AICDA at MOPED

Post-translational modifications: 

  • Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its
    class-switch recombination activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for AICDA (Q9GZX7)
     FTSWSPC  RQLRRILLPLYEVDDLRDAFR 


    See AICDA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065712.1  
    ENSEMBL proteins: 
     ENSP00000229335   ENSP00000439103   ENSP00000439538   ENSP00000445691   ENSP00000443060  

    AICDA Human Recombinant Protein Products:

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    AICDA Antibody Products:

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    Cloud-Clone Corp. CLIAs for AICDA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOBEC: Apolipoprotein B mRNA editing enzymes

    3 InterPro protein domains:
     IPR016192 APOBEC/CMP_deaminase_Zn-bd
     IPR013158 APOBEC_N
     IPR016193 Cytidine_deaminase-like

    Graphical View of Domain Structure for InterPro Entry Q9GZX7

    ProtoNet protein and cluster: Q9GZX7

    2 Blocks protein domains:
    IPB002125 Cytidine/deoxycytidylate deaminase
    IPB007904 APOBEC-like


    UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7
    Similarity: Belongs to the cytidine and deoxycytidylate deaminase family


    AICDA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AICDA_HUMAN, Q9GZX7
    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
    Catalytic activity: Cytosine in single-stranded DNA + H(2)O = uracil in single-stranded DNA + NH(3)
    Induction: Negatively regulated by microRNA-155 (miR-155)

         Enzyme Numbers (IUBMB): EC 3.5.4.52 EC 3.5.4.381

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004126cytidine deaminase activity NAS10950930
    GO:0005515protein binding IPI18722174
    GO:0008270zinc ion binding IEA--
    GO:0016814hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines ----
         
    AICDA for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Aicda):
     cellular  digestive/alimentary  hematopoietic system  immune system  integument 
     mortality/aging  no phenotypic analysis  normal  tumorigenesis 

    AICDA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aicdatm1Hon for AICDA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AICDA
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AICDA (see all 18):
    hsa-miR-124* hsa-miR-498 hsa-miR-4291 hsa-miR-148b* hsa-miR-502-5p hsa-miR-4263 hsa-miR-155 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidAICDA 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AICDA_HUMAN, Q9GZX7: Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the
    cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000178colocalizes with exosome (RNase complex) IDA--
    GO:0005634nucleus IDA14769937
    GO:0005737cytoplasm IDA--

    AICDA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AICDA About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1superpathway of pyrimidine ribonucleosides degradation
    superpathway of pyrimidine ribonucleosides degradation0.60
    pyrimidine ribonucleosides degradation0.00
    pyrimidine deoxyribonucleosides degradation0.33
    2superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleoside salvage0.46
    pyrimidine deoxyribonucleosides salvage0.00
    3Allograft rejection
    Intestinal immune network for IgA production0.41
    4pyrimidine ribonucleosides salvage I
    pyrimidine ribonucleosides salvage I
    5Primary immunodeficiency
    Primary immunodeficiency

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for AICDA
        Lymphocyte Signaling

    Selected BioSystems Pathways for AICDA (see all 7)
        pyrimidine ribonucleosides degradation
    IL4-mediated signaling events
    pyrimidine deoxyribonucleosides degradation
    pyrimidine deoxyribonucleosides salvage
    pyrimidine ribonucleosides salvage I



    2 Kegg Pathways  (Kegg details for AICDA):
        Intestinal immune network for IgA production
    Primary immunodeficiency


    AICDA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including AICDA: 
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AICDA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AICDA (Q9GZX71, 2, 3 ENSP000002293354) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJA2O608841, 2EBI-3834328,EBI-352957 MINT-8378360 MINT-8380842 MINT-8378435
    HSPA8P111421, 2EBI-3834328,EBI-351896 MINT-8380842 MINT-8378492
    ENSG00000258947Q135093, ENSP000003202954I2D: score=1 STRING: ENSP00000320295
    ACACAQ130853, ENSP000003447894I2D: score=1 STRING: ENSP00000344789
    DNASE1P248553, ENSP000002469494I2D: score=1 STRING: ENSP00000246949
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0009972cytidine deamination ----
    GO:0016445somatic diversification of immunoglobulins IDA18722174
    GO:0016446somatic hypermutation of immunoglobulin genes IMP--
    GO:0030183B cell differentiation NAS11007475

    AICDA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AICDA

    2 HMDB Compounds for AICDA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cytidine1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)65-46-3--
    dCMP2'-Deoxycytidine 5'-monophosphate (see all 12)1032-65-1--

    9 Novoseek inferred chemical compound relationships for AICDA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytidine 98.1 405 16964591 (4), 16697045 (4), 19380635 (4), 16580072 (3) (see all 99)
    cytosine 76 35 15087440 (3), 15034045 (2), 15797512 (2), 14769937 (1) (see all 27)
    deoxycytosine 66.4 2 16464563 (1), 16884961 (1)
    deoxycytidine 63.2 14 20048284 (2), 17328676 (1), 11994423 (1), 18070939 (1) (see all 9)
    deoxyuridine 51.1 6 18213388 (1), 15023419 (1), 18070939 (1), 17227912 (1)
    ivig 3.72 1 12715918 (1)
    zinc 0 3 17560271 (1)
    estrogen 0 5 19139166 (3), 19139165 (2), 12591955 (1)
    cycloheximide 0 1 12591955 (1)



    AICDA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AICDA gene: 
    NM_020661.2  

    Unigene Cluster for AICDA:

    Activation-induced cytidine deaminase
    Hs.149342  [show with all ESTs]
    Unigene Representative Sequence: NM_020661
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000229335(uc001qup.1 uc001quq.1 uc009zgd.1 uc001qur.2)
    ENST00000543081 ENST00000544516 ENST00000545576 ENST00000537228 ENST00000545512

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate AICDA (see all 18):
    hsa-miR-124* hsa-miR-498 hsa-miR-4291 hsa-miR-148b* hsa-miR-502-5p hsa-miR-4263 hsa-miR-155 hsa-miR-548c-3p
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    Additional mRNA sequence: 

    AB040431.1 AF529818.1 AJ577811.1 AY534975.1 AY536516.1 AY536517.1 AY541058.1 AY748364.1 
    BC006296.2 BT007402.1 DQ431660.1 

    3 DOTS entries:

    DT.433929  DT.102821864  DT.91797647 

    Selected AceView cDNA sequences (see all 96):

    AB040431 AJ577811 CR615215 AA831307 AI016902 NM_020661 AI468242 AY534975 
    AY536517 BC006296 AF529854 AF529853 AF529840 AY541058 BX402063 BG398364 
    BQ055935 AF529821 AF529841 BG170756 AF529843 BG757089 AF529815 AF529827 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AICDA    About this scheme

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


    ECgene alternative splicing isoforms for AICDA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AICDA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCCTTTT
    AICDA Expression
    About this image


    AICDA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Tonsil (Hematopoietic System)
    AICDA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AICDA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149342

    UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7
    Tissue specificity: Strongly expressed in lymph nodes and tonsils

        Pathway & Disease-focused RT2 Profiler PCR Array including AICDA: 
              T-cell & B-cell Activation in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat AICDA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AICDA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AICDA gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aicda1 , 5 activation-induced cytidine deaminase1, 5 87.04(n)1
    92.42(a)1
      6 (57.65 cM)5
    116281  NM_009645.21  NP_033775.11 
     1225538015 
    chicken
    (Gallus gallus)
    Aves AICDA1 activation-induced cytidine deaminase 80.47(n)
    89.9(a)
      418257  NM_001243222.1  NP_001230151.1 
    lizard
    (Anolis carolinensis)
    Reptilia AICDA6
    activation-induced cytidine deaminase
    85(a)
    1 ↔ 1
    2(81518110-81535131)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004976061 activation-induced cytidine deaminase-like 69.36(n)
    70.2(a)
      100497606  XM_002941202.2  XP_002941248.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aicda1 activation-induced cytidine deaminase 62.27(n)
    64.47(a)
      493784  NM_001008403.1  NP_001008403.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AICDA gene
    APOBEC3G2  APOBEC3F2  APOBEC12  APOBEC22  APOBEC3B2  APOBEC3D2  APOBEC3C2  APOBEC3A2  
    APOBEC3H2  
    12 SIMAP similar genes for AICDA using alignment to 8 protein entries:     AICDA_HUMAN (see all proteins):
    AID    APOBEC3F    APOBEC3G    APOBEC1    APOBEC3C    APOBEC3A
    APOBEC2    APOBEC3B    APOBEC3D    APOBEC3DE    APOBEC3H    bK150C2.9

    AICDA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AICDA (see all 333)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0137774
    Immunodeficiency with hyper-IgM 2 (HIGM2)4--see VAR_0137772 M V mis40--------
    VAR_0137744
    Immunodeficiency with hyper-IgM 2 (HIGM2)4--see VAR_0137742 R W mis40--------
    VAR_0137764
    Immunodeficiency with hyper-IgM 2 (HIGM2)4--see VAR_0137762 L P mis40--------
    VAR_0137784
    Immunodeficiency with hyper-IgM 2 (HIGM2)4--see VAR_0137782 F S mis40--------
    VAR_0137754
    Immunodeficiency with hyper-IgM 2 (HIGM2)4--see VAR_0137752 W R mis40--------
    rs1048943271,2
    Cpathogenic18637286(-) TACTTC/TTGTAG 2 S F mis10--------
    rs1048943231,2
    Cpathogenic18637297(-) TACTGA/CTGGAA 2 * C stg10--------
    rs1048943221,2
    Cpathogenic18637616(-) CCATCA/GTGACC 2 M V mis10--------
    rs1048943211,2
    Cpathogenic18637714(-) CAGTCC/TGAGGA 2 P L mis10--------
    rs1048943201,2
    Cpathogenic18637793(-) TCACCC/TGGTTC 2 R W mis10--------

    HapMap Linkage Disequilibrium report for AICDA (8754762 - 8765467 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AICDA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527782CNV Gain19592680

    Human Gene Mutation Database (HGMD): AICDA
    Locus Specific Mutation Databases (LSDB): AICDA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AICDA
    DNA2.0 Custom Variant and Variant Library Synthesis for AICDA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605257   
    OMIM disorders: 605258  
    UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for AICDA (see all 57):    
    About MalaCards
    immunodeficiency with hyper igm type 2    plasma cell neoplasm    x-linked hyper igm syndrome    splenic marginal zone lymphoma
    burkitt's lymphoma    follicular lymphoma    nijmegen breakage syndrome    plasmacytoma
    atrophic gastritis    hairy cell leukemia    common variable immunodeficiency    chronic lymphocytic leukemia
    mantle cell lymphoma    mediastinitis    malt lymphoma    ataxia telangiectasia
    agammaglobulinemia    allergic asthma    gastritis    hodgkin's lymphoma

    3 diseases from the University of Copenhagen DISEASES database for AICDA:
    Lymphoma     X-linked hyper IgM syndrome     Common variable immunodeficiency

    AICDA for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AICDA gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    higm2 92.1 10 11007475 (3), 12840068 (2), 19266080 (1), 14610488 (1)
    hyper-igm syndrome 88.3 17 11007475 (2), 14564357 (2), 19266080 (1), 12840068 (1) (see all 10)
    higm3 84 4 12840068 (1), 14610488 (1)
    somatic mutations 64.9 14 18329947 (2), 12511417 (1), 15284115 (1), 16574227 (1) (see all 12)
    nijmegen breakage syndrome 56.3 1 17183606 (1)
    lymphoma b-cell 54.3 20 12511417 (2), 17560277 (1), 15385936 (1), 16541139 (1) (see all 11)
    burkitt lymphoma 52.4 6 15304391 (1), 18090274 (1), 12873980 (1), 15061213 (1) (see all 6)
    lymphoma 47 41 18776814 (5), 17251349 (3), 19941823 (3), 18066064 (2) (see all 19)
    lymphocytic leukemia chronic b-cell 47 4 16323428 (1), 15304391 (1), 15561888 (1), 12521993 (1)
    lymphoma follicular 46.9 5 12511417 (1), 12873980 (1), 19309412 (1), 14990977 (1) (see all 5)

    Genetic Association Database (GAD): AICDA
    Human Genome Epidemiology (HuGE) Navigator: AICDA (13 documents)

    Export disorders for AICDA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AICDA gene, integrated from 10 sources (see all 373):
    (articles sorted by number of sources associating them with AICDA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels. (PubMed id 11544457)1, 2, 4, 9 Noguchi E.... Arinami T. (J. Allergy Clin. Immunol. 2001)
    2. Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (hAID) gene. (PubMed id 10950930)1, 2, 9 Muto T.... Honjo T. (Genomics 2000)
    3. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). (PubMed id 11007475)1, 2, 9 Revy P....Durandy A. (Cell 2000)
    4. No association between AICDA 7888 C/T polymorphism, Helicobacter pylori seropositivity, and the risk of atrophic gastritis and gastric cancer in Japanese. (PubMed id 20373075)1, 4, 9 Hishida A....Hamajima N. (Gastric Cancer 2010)
    5. Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1. (PubMed id 18722174)1, 2, 9 Conticello S.G.... Neuberger M.S. (Mol. Cell 2008)
    6. Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. (PubMed id 14769937)1, 2, 9 Ito S....Honjo T. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    7. [Correlation between activation-induced cytidine deaminase gene polymorphism and atopic asthma and plasma IgE in adult]. (PubMed id 15182647)1, 4, 9 Cui T.P....Wu J.M. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2003)
    8. Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma. (PubMed id 12973929)1, 4, 9 Cui T....Xie J. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2003)
    9. BCL6 positively regulates AID and germinal center gene expression via repression of miR-155. (PubMed id 23166356)1, 2 Basso K....Dalla-Favera R. (J. Exp. Med. 2012)
    10. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)1, 2 Ganesh K.... Neuberger M. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57379 HGNC: 13203 AceView: AICDA Ensembl:ENSG00000111732 euGenes: HUgn57379
    ECgene: AICDA Kegg: 57379 H-InvDB: AICDA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AICDA Pharmacogenomics, SNPs, Pathways
    AICDAbasehttp://bioinf.uta.fi/AICDAbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AICDA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AICDA gene:
    Search GeneIP for patents involving AICDA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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