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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD79A Gene

protein-coding   GIFtS: 64
GCID: GC19P042381

CD79a molecule, immunoglobulin-associated alpha

(Previous name: CD79A antigen (immunoglobulin-associated alpha) )
(Previous symbol: IGA)
 Explore 374 diseases affiliated with
CD79A via our new
 Human Malady Compendium 
Biological research products
for CD79A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CD79a Molecule, Immunoglobulin-Associated Alpha1 2     MB-1 Membrane Glycoprotein2 3
IGA1 2 3 5     B-Cell Antigen Receptor Complex-Associated Protein Alpha Chain2
MB-11 2     Ig-Alpha1
CD79A Antigen (Immunoglobulin-Associated Alpha)1 2     Ig-Alpha1
Membrane-Bound Immunoglobulin-Associated Protein2 3     MB13
Surface IgM-Associated Protein2 3     CD79a Antigen3

External Ids:    HGNC: 16981   Entrez Gene: 9732   Ensembl: ENSG000001053697   OMIM: 1122055   UniProtKB: P119123   

Export aliases for CD79A gene to outside databases

Previous GC identifers: GC19P043020 GC19P042773 GC19P047057 GC19P047073 GC19P038812


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CD79A:
The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface
immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are
necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the
B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CD79A_HUMAN, P11912
Function: Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of
antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to
late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of
pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity
with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family
tyrosine kinases. Represses BCR signaling during development of immature B-cells

Gene Wiki entry for CD79A


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD79A gene promoter:
         p53   c-Myb   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD79A promoter sequence
   Search SABiosciences Chromatin IP Primers for CD79A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD79A


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

CD79A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD79A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P042381:  view genomic region     (about GC identifiers)

Start:
42,381,190 bp from pter      End:
42,385,439 bp from pter
Size:
4,250 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CD79A_HUMAN, P11912 (See protein sequence)
Recommended Name: B-cell antigen receptor complex-associated protein alpha chain precursor  
Size: 226 amino acids; 25038 Da
Subunit: Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the
alpha/beta chain heterodimer is non-covalently associated with an antigen-specific membrane-bound surface
immunoglobulin of two heavy chains and two light chains. Interacts through its phosphorylated ITAM domain with the SH2
domains of SYK which stimulates SYK autophosphorylation and activation. Also interacts, when phosphorylated on
Tyr-210, with the SH2 domain of BLNK/SLP65, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate
BLNK which is necessary for trafficking of the BCR to late endosomes. Interacts with Src-family tyrosine kinases
including FYN and LYN, increasing their activity (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has
been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal
transduction through the complex can also occur outside lipid rafts (By similarity)
1 PDB 3D structure from and Proteopedia for CD79A:
1CV9 (3D)    
Secondary accessions: A0N775 Q53FB8
Alternative splicing: 2 isoforms:  P11912-1   P11912-2   

Explore the universe of human proteins at neXtProt for CD79A: NX_P11912

Post-translational modifications:

  • Phosphorylated on tyrosine, serine and threonine residues upon B-cell activation. Phosphorylation of tyrosine residues
  • by Src-family kinases is an early and essential feature of the BCR signaling cascade. The phosphorylated tyrosines
    serve as docking sites for SH2-domain containing kinases, leading to their activation which in turn leads to
    phosphorylation of downstream targets. Phosphorylated by LYN. Phosphorylation of serine and threonine residues may
    prevent subsequent tyrosine phosphorylation1
  • Arginine methylation in the ITAM domain may interfere with the binding of SYK. It promotes signals leading to B cell
  • differentiation (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11912

  • CD79A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001774.1  NP_067612.1  

    ENSEMBL proteins: 
     ENSP00000221972   ENSP00000400605  
    Reactome Protein details: P11912
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005771multivesicular body ISS--
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane ISS--
    GO:0016021integral to membrane IEA--
    GO:0019815B cell receptor complex ISS--


    CD79A for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CD79A for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003598 Ig_sub2
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR003110 Phos_immunorcpt_sig_ITAM
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry P11912

    ProtoNet protein and cluster: P11912

    4 Blocks protein families:
    IPB003110 Phosphorylated immunoreceptor signaling ITAM
    IPB003598 Immunoglobulin C-2 type
    IPB003599 Immunoglobulin subtype
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: CD79A_HUMAN, P11912
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 ITAM domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CD79A_HUMAN, P11912
    Function: Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of
    antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to
    late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of
    pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity
    with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family
    tyrosine kinases. Represses BCR signaling during development of immature B-cells

         Genatlas biochemistry entry for CD79A:
    Ig alpha component (47kDa),B cell Ag receptor,mouse mb-1 homolog (Ig-alpha/mb-1)

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity IEA--
    GO:0005515protein binding ----


    CD79A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CD79A:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for CD79A: Cd79atm2Pld Cd79atm4.1Cgn Cd79atm5.1Cgn
         8 MGI mutant phenotypes (inferred from 18 alleles(MGI details for Cd79a):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  nervous system 
     no phenotypic analysis  normal  renal/urinary system 

    CD79A for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1B cell receptor signaling pathway
    B cell receptor signaling pathway1.00
    PI3K Signaling in B-Lymphocyte0.35
    BCR signaling pathway0.41
    2Assembly of Signalosomes at the Activated BCR
    Assembly of Signalosomes at the Activated BCR1.00
    Phosphorylation of ITAMs of Ig-alpha (CD79A) and Ig-beta (CD79B)0.45
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.78
    3Immune response_NFAT in immune response
    Immune response_NFAT in immune response1.00
    Immune response NFAT in immune response0.91
    4Signal transduction_IP3 signaling
    Signal transduction_IP3 signaling1.00
    Signal transduction IP3 signaling0.92
    5Immune System
    Immune System1.00
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for CD79A
        Immune response BCR pathway
    Signal transduction IP3 signaling
    Immune response NFAT in immune response

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CD79A (see all 6)
        Fc-Gamma-RIIB Signaling in B-Cells
    B-Cell Receptor Complex
    IP3 Pathway
    Phospholipase-C Pathway
    PI3K Signaling in B-Lymphocyte

    1 Cell Signaling Technology (CST) Pathway for CD79A
        Lymphocyte Signaling

    3 GeneGo (Thomson Reuters) Pathways for CD79A
        Immune response BCR pathway
    Signal transduction IP3 signaling
    Immune response NFAT in immune response

    2 BioSystems Pathways for CD79A 
        B Cell Receptor Signaling Pathway
    BCR signaling pathway

    5/6        Reactome Pathways for CD79A (see all 6)
        Assembly of Signalosomes at the Activated BCR
    Phosphorylation of ITAMs of Ig-alpha (CD79A) and Ig-beta (CD79B)
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Adaptive Immune System
    Immune System


    2         Kegg Pathways  (Kegg details for CD79A):
        B cell receptor signaling pathway
    Primary immunodeficiency


    CD79A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD79A

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

    5/49 Interacting proteins for CD79A (P119122, 3 ENSP000002219724) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FN1P027512, 3, ENSP000003468394MINT-6491150 I2D: score=1 STRING: ENSP00000346839
    CD19P153913, ENSP000003134194I2D: score=3 STRING: ENSP00000313419
    SYKP434053, ENSP000003648984I2D: score=3 STRING: ENSP00000364898
    CD5P061273, ENSP000003426814I2D: score=2 STRING: ENSP00000342681
    FYNP062413, ENSP000003576564I2D: score=2 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030183B cell differentiation ISS--
    GO:0042100B cell proliferation ISS--
    GO:0042113B cell activation ISS--
    GO:0050853B cell receptor signaling pathway ISS--


    CD79A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CD79A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CD79A
    10/124 Novoseek chemical compound relationships for CD79A gene (see all 124)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gliadin 86 224 8311090 (5), 15355487 (4), 11144436 (3), 8937757 (3) (see all 99)
    gluten 76.3 80 2311308 (6), 2320948 (6), 15355487 (4), 17364503 (3) (see all 45)
    unicap 50.8 4 20181654 (1), 11329459 (1), 19584951 (1), 20016199 (1)
    cardiolipin 50.8 17 7699683 (2), 10689008 (1), 11795690 (1), 18789008 (1) (see all 14)
    sulfolipid i 50.4 4 12354881 (2), 14715547 (1)
    ivig 47.3 28 9741353 (2), 7523434 (1), 17999675 (1), 1628130 (1) (see all 17)
    reticulin 47.1 8 15082580 (1), 8201496 (1), 7535982 (1), 10563541 (1) (see all 8)
    creatinine 45.8 78 10556477 (3), 2046826 (2), 2105638 (1), 2113220 (1) (see all 57)
    gamma globulin 45.8 4 9649200 (2), 2334858 (1)
    neopterin 43.1 23 9028411 (3), 1967191 (2), 9219059 (2), 8925815 (1) (see all 18)

    Search CenterWatch for drugs/clinical trials and news about CD79A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for CD79A gene (2 alternative transcripts): 
    NM_001783.3  NM_021601.3  

    Unigene Cluster for CD79A:

    CD79a molecule, immunoglobulin-associated alpha
    Hs.631567  [show with all ESTs]
    Unigene Representative Sequence: AK223371
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221972(uc002orv.3) ENST00000444740(uc002oru.3)

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    Additional cDNA sequence: 

    AK223371.1 AK315337.1 BC018964.2 BC113731.1 BC113733.1 M74721.1 M80462.1 M86921.1 
    S46706.1 S75217.1 S79248.1 X13451.1 X83540.1 

    8 DOTS entries:

    DT.95362928  DT.446838  DT.100863315  DT.121409221  DT.121409220  DT.92439847  DT.95362925  DT.95362935 

    24/261 AceView cDNA sequences (see all 261):

    BM927669 BQ060823 BQ059168 BF794319 CR617518 BE396686 BG758434 AA306502 
    BM477238 BG685198 BX115495 S79248 BQ707323 BM914306 BE267912 BQ064095 
    BG025513 X83540 BQ057216 AA687459 BQ185363 T87012 CR600210 BQ004795 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CD79A    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b
    SP1:                    -                           
    SP2:              -     -                           
    SP3:                                                


    ECgene alternative splicing isoforms for CD79A

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CD79A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGGAGGGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CD79A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Umbilical CordWharton's JellyUmbilical Cord Mesenchymal Stem CellsExtraembryonic Tissues, Umbilical Cord
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CD79A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD79A

    SOURCE GeneReport for Unigene cluster: Hs.631567

    UniProtKB/Swiss-Prot: CD79A_HUMAN, P11912
    Tissue specificity: B-cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including CD79A: 
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              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CD79A gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd79a1 , 5 CD79A antigen (immunoglobulin-associated alpha)1, 5 74.55(n)1
    70.91(a)1
      7 (13.49 cM)5
    125181  NM_007655.31  NP_031681.21 
     248973815 
    lizard
    (Anolis carolinensis)
    Reptilia CD79A6
    --
    43(a)
    1 ↔ 1
    AAWZ02038666(866-7865)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7987921 b-cell antigen receptor complex-associated protein more 49.35(n)
    37.75(a)
      798792  XM_001339187.1  XP_001339223.1 


    ENSEMBL Gene Tree for CD79A (if available)
    TreeFam Gene Tree for CD79A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/119 NCBI SNPs in CD79A are shown (see all 119    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs118813461,2
    C,H,--38810787(+) aaagcA/Gagact 2 -- us2k11Minor allele frequency- G:0.00NA 2
    rs756439131,2
    F,--38812543(+) GCGAGG/AGCCAC 2 -- ut511Minor allele frequency- A:0.03WA 118
    rs766252251,2
    F--38812793(+) GCAGAG/CAGGGC 2 -- int11Minor allele frequency- C:0.50NA 4
    rs1125802821,2
    C,--38813598(+) CACATT/ACAACT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs743927571,2
    C,F,--38813634(+) GGTCAC/TAGGCC 2 -- int11Minor allele frequency- T:0.10WA 118
    rs793265281,2
    C,F,--38814016(+) GTATGC/TGGGAG 2 -- int11Minor allele frequency- T:0.10WA 118
    rs118801161,2
    C,F,H,--38814122(+) CACCCC/TAACCA 2 -- int13Minor allele frequency- T:0.12NA CSA WA 124
    rs1130192861,2
    F--38814570(+) GGCATG/ATACGT 3 /I /M int1 mis12Minor allele frequency- A:0.50CSA 6
    rs115393911,2
    H--38814949(+) AGCCGA/GGGGGA 4 E G mis1 ese34Minor allele frequency- G:0.00NS EA 398
    rs1135069271,2
    --38815072(+) CCAGGC/TAGCCC 2 -- int11Minor allele frequency- T:0.00CSA 1

    HapMap Linkage Disequilibrium report for CD79A (42381190 - 42385439 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CD79A: --
    Human Gene Mutation Database (HGMD): CD79A

    Locus Specific Mutation Databases (LSDB): CD79A

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CD79A for disorders           About GeneDecksing

    OMIM gene information: 112205   
    OMIM disorders: 613501  
    UniProtKB/Swiss-Prot: CD79A_HUMAN, P11912
  • Defects in CD79A are the cause of agammaglobulinemia type 3 (AGM3) [MIM:613501]. It is a primary
  • immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due
    to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
    Note=Two different mutations, one at the splice donor site of intron 2 and the other at the splice acceptor site for
    exon 3, have been identified. Both mutations give rise to a truncated protein

    20/374 diseases for CD79A (see all 374):    About MalaCards
    subcorneal pustular dermatosis    henoch-schoenlein purpura    epidermolysis bullosa acquisita    protein-losing enteropathy
    erythema elevatum diutinum    pure red-cell aplasia    monoclonal gammopathy of undetermined significance    heparin-induced thrombocytopenia
    marginal zone b-cell lymphoma    protein-energy malnutrition    exercise induced anaphylaxis    tabes dorsalis
    dandy-walker syndrome    epidermolysis bullosa    acute poststreptococcal glomerulonephritis    necrobiotic xanthogranuloma
    isolated growth hormone deficiency    natural killer cell leukemia    common variable immunodeficiency    chiari malformation

    20/95 diseases from the University of Copenhagen DISEASES database for CD79A (see all 95):
    Nephritis     Celiac disease     Immunoglobulin alpha deficiency     Myeloma
    Cholera     Dermatitis     Proteinuria     Lymphoma
    Diarrhea     Agammaglobulinemia     Influenza     Rheumatoid arthritis
    Vasculitis     Nephrotic syndrome     Nasopharynx carcinoma     Toxoplasmosis
    Systemic lupus erythematosus     Henoch-Schoenlein purpura     Epidermolysis bullosa acquisita     Pneumonia

    10/93 Novoseek disease relationships for CD79A gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nephropathy iga 95.2 2762 11532693 (11), 10213640 (11), 12955676 (10), 17074110 (10) (see all 99)
    iga deficiency 91.7 509 17362578 (10), 2093881 (9), 16631941 (7), 20101521 (7) (see all 99)
    iga deficiency selective 83.6 132 15086392 (5), 7892814 (4), 9852751 (4), 15711951 (3) (see all 61)
    celiac disease 82.8 125 9931524 (5), 16131987 (4), 8565771 (3), 8885812 (3) (see all 82)
    hyper-igm syndrome 78.2 21 7964460 (1), 17303928 (1), 19266080 (1), 16311023 (1) (see all 18)
    igg subclass deficiency 74.8 31 15864886 (6), 17338791 (6), 8385798 (2), 12144642 (2) (see all 10)
    glomerulonephritis 74.7 158 7527503 (2), 12543867 (2), 15696457 (2), 8712219 (2) (see all 99)
    proteinuria 73.1 136 17255215 (4), 17978307 (3), 10412761 (3), 10802148 (3) (see all 90)
    henoch-schonlein purpura 72.2 75 9568852 (5), 9557162 (3), 1928066 (3), 9002298 (3) (see all 40)
    dermatitis herpetiformis 71.2 56 1972829 (5), 2182721 (3), 1885069 (3), 16631941 (2) (see all 27)

    Human Genome Epidemiology (HuGE) Navigator: CD79A (5 documents)

    Export disorders for CD79A 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)
    About This Section

    PubMed articles for CD79A gene, integrated from 9 sources (see all 2369):
    (articles sorted by number of sources associating them with CD79A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression pattern of a human gene homologous to the murine mb-1 gene. (PubMed id 1538135)1, 2, 3 Ha H.J.... Burrows P.D. (1992)
    2. Cloning and sequencing of the cDNA encoding the human homologue of the murine immunoglobulin-associated protein B29. (PubMed id 1534761)1, 2, 9 Mueller B.S.... Terhorst C. (1992)
    3. Structure, chromosomal localization, and methylation pattern of the human mb-1 gene. (PubMed id 8207205)1, 2, 9 Ha H.... Burrows P.D. (1994)
    4. Structure and expression of the mb-1 transcript in human lymphoid cells. (PubMed id 1395095)1, 2, 9 Leduc I.... Cogne M. (1992)
    5. Substrate recognition by the Lyn protein-tyrosine kinase. NMR structure of the immunoreceptor tyrosine-based activation motif signaling region of the B cell antigen receptor. (PubMed id 10748115)1, 2 Gaul B.S....Post C.B. (2000)
    6. Alternative splicing of CD79a (Ig-alpha/mb-1) and CD79b (Ig-beta/B29) RNA transcripts in human B cells. (PubMed id 7643857)1, 2 Hashimoto S.... Gregersen P.K. (1995)
    7. Isolation and chemical characterization of the human B29 and mb-1 proteins of the B cell antigen receptor complex. (PubMed id 7514267)1, 2 Vasile S.... Seon B.K. (1994)
    8. Chromosomal localization, genomic structure, and allelic polymorphism of the human CD79 alpha (Ig-alpha/mb-1) gene. (PubMed id 7916003)1, 2 Hashimoto S.... Chiorazzi N. (1994)
    9. Human mb-1 gene: complete cDNA sequence and its expression in B cells bearing membrane Ig of various isotypes. (PubMed id 1729378)1, 2 Yu L.M. and Chang T.W. (1992)
    10. Molecular cloning of the Ig-alpha subunit of the human B-cell antigen receptor complex. (PubMed id 1639443)1, 2 Flaswinkel H. and Reth M. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 973 HGNC: 1698 AceView: CD79A Ensembl:ENSG00000105369 euGenes: HUgn973
    ECgene: CD79A Kegg: 973 H-InvDB: CD79A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CD79A Pharmacogenomics, SNPs, Pathways
    CD79Abasehttp://bioinf.uta.fi/CD79Abase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CD79A gene:
    Search GeneIP for patents involving CD79A

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



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