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

IGHA2 Gene

protein-coding   GIFtS: 39
GCID: GC14M106050

Immunoglobulin Heavy Constant Alpha 2 (A2m Marker)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Immunoglobulin Heavy Constant Alpha 2 (A2m Marker)1 2

External Ids:    HGNC: 54791   Entrez Gene: 34942   Ensembl: ENSG000002118907   OMIM: 1470005   UniProtKB: P018773   

Export aliases for IGHA2 gene to outside databases

Previous GC identifers: GC14U990031 GC14M100045 GC14M104024 GC14M105124


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

GeneCards Summary for IGHA2 Gene: 
IGHA2 (immunoglobulin heavy constant alpha 2 (A2m marker)) is a protein-coding gene. Diseases associated with IGHA2 include keratopathy, and thalassemia, and among its related super-pathways are Scavenging of Heme from Plasma. GO annotations related to this gene include antigen binding. An important paralog of this gene is IGHG2.

UniProtKB/Swiss-Prot: IGHA2_HUMAN, P01877
Function: Ig alpha is the major immunoglobulin class in body secretions. It may serve both to defend against local
infection and to prevent access of foreign antigens to the general immunologic system

Gene Wiki entry for IGHA2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IGHA2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for IGHA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGHA2


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

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

IGHA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGHA2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M106050:  view genomic region     (about GC identifiers)

Start:
106,053,226 bp from pter      End:
106,054,732 bp from pter
Size:
1,507 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IGHA2_HUMAN, P01877 (See protein sequence)
Recommended Name: Ig alpha-2 chain C region  
Size: 340 amino acids; 36526 Da
Subunit: Monomeric or polymeric
Miscellaneous: The sequence of the A2m(1) allotype is shown
Caution: N-glycosylation was reported in milk on the non-canonical Asn-92 site (PubMed:18780401). However,
according to Ref.10, N-glycosylation from the same tissue was found to be absent at this site
Sequence caution: Sequence=AAB59396.1; Type=Erroneous initiation;

Explore the universe of human proteins at neXtProt for IGHA2: NX_P01877

Explore proteomics data for IGHA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01877

  • IGHA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IGHA2 Protein Expression

    ENSEMBL proteins: 
     ENSP00000374981  
    Reactome Protein details: P01877
    Human Recombinant Protein Products for IGHA2: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0016020membrane NAS--

    IGHA2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IGH: Immunoglobulins / IGH locus

    4 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS

    Graphical View of Domain Structure for InterPro Entry P01877

    ProtoNet protein and cluster: P01877

    1 Blocks protein domain: IPB003597 Immunoglobulin C-type

    UniProtKB/Swiss-Prot: IGHA2_HUMAN, P01877
    Similarity: Contains 3 Ig-like (immunoglobulin-like) domains


    IGHA2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IGHA2_HUMAN, P01877
    Function: Ig alpha is the major immunoglobulin class in body secretions. It may serve both to defend against local
    infection and to prevent access of foreign antigens to the general immunologic system

         Genatlas biochemistry entry for IGHA2:
    immunoglobulin,alpha 2 (A2M marker)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding TAS6421489
    GO:0005515protein binding ----
         
    IGHA2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IGHA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Binding and Uptake of Ligands by Scavenger Receptors
    Scavenging of Heme from Plasma0.63
    Binding and Uptake of Ligands by Scavenger Receptors0.63
    2Inflammatory Response Pathway
    Inflammatory Response Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for IGHA2
        Inflammatory Response Pathway

    2        Reactome Pathways for IGHA2
        Scavenging of Heme from Plasma
    Binding and Uptake of Ligands by Scavenger Receptors



    IGHA2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IGHA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for IGHA2 (P018773 ENSP000003749814) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUAK1O602853, ENSP000002614024I2D: score=1 STRING: ENSP00000261402
    CDK14O949213, ENSP000002657414I2D: score=1 STRING: ENSP00000265741
    CDK2AP1O145193, ENSP000002616924I2D: score=1 STRING: ENSP00000261692
    IGKCENSP000003747774STRING: ENSP00000374777
    PIGRENSP000003488884STRING: ENSP00000348888
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS2241915

    IGHA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IGHA2

    1 DrugBank Compound for IGHA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DansyllysineDNS (see all 4)1101-84-4target--10592235

    Search CenterWatch for drugs/clinical trials and news about IGHA2

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000390539(uc001yrs.3 uc001yrt.3)
    miRNA
    Products:
         
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    Inhib. RNA
    Products:
         
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    1 AceView cDNA sequence:

    AL389978 

    GeneLoc Exon Structure


    (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

    IGHA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IGHA2 Expression
    About this image


    See IGHA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IGHA2
        SABiosciences Custom PCR Arrays for IGHA2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGHA2

    (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 IGHA2 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii ighz6
    ighm6
    immunoglobulin heavy constant mu
    13(a)
    11(a)
    many ↔ many
    many ↔ many
    3(34079980-34083059)
    3(34048543-34145441)
            Species with no ortholog for IGHA2

    ENSEMBL Gene Tree for IGHA2 (if available)
    TreeFam Gene Tree for IGHA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IGHA2 gene
    IGHG22  IGHE2  IGHA12  IGHM2  IGHG32  IGHG42  IGHG12  
    18/19 SIMAP similar genes for IGHA2 using alignment to 1 protein entry:     IGHA2_HUMAN(see all similar genes):
    DKFZp686C02218    DKFZp686K04218    DKFZp686L19235    DKFZp686M08189    IGH@    DKFZp686C02220
    DKFZp686O16217    DKFZp686J11235    DKFZp686K18196    IGHA1    SNC73    DKFZp686G21220
    IGHG2    IGHG4    IGHG1    IGKC    IGHM    IGLC6

    IGHA2 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) 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

    6 SNPs in IGHA2 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0038844
    ----see VAR_0038842 V A mis40--------
    VAR_0038814
    ----see VAR_0038812 F Y mis40--------
    VAR_0038804
    ----see VAR_0038802 P R mis40--------
    VAR_0038834
    ----see VAR_0038832 V I mis40--------
    VAR_0038824
    ----see VAR_0038822 D E mis40--------
    VAR_0038794
    ----see VAR_0038792 P S mis40--------

    HapMap Linkage Disequilibrium report for IGHA2 (106053226 - 106054732 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for IGHA2: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing IGHA2
    DNA2.0 Custom Variant and Variant Library Synthesis for IGHA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147000    OMIM disorders: --

    2 diseases for IGHA2:    About MalaCards
    keratopathy    thalassemia

    1 disease from the University of Copenhagen DISEASES database for IGHA2:
    Thalassemia

    IGHA2 for disorders           About GeneDecksing


    Export disorders for IGHA2 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 IGHA2 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with IGHA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (2006)
    2. A proteomic analysis of human bile. (PubMed id 15084671)1, 2 Kristiansen T.Z.... Pandey A. (2004)
    3. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (2004)
    4. The structure and function of human IgA. (PubMed id 2241915)1, 2 Kerr M.A. (1990)
    5. Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences. (PubMed id 6421489)1, 2 Flanagan J.G.... Rabbitts T.H. (1984)
    6. Structure of the A2m(1) allotype of human IgA -- a recombinant molecule. (PubMed id 286295)1, 2 Tsuzukida Y.... Putnam F.W. (1979)
    7. Complete amino acid sequence of the alpha 2 heavy chain of a human IgA2 immunoglobulin of the A2m (2) allotype. (PubMed id 416441)1, 2 Torano A. and Putnam F.W. (1978)
    8. In situ identification and localization of IGHA2 in th e breast tumor microenvironment by mass spectrometry. (PubMed id 22894699)1 Kang S....Cho N.H. (2012)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 3494 HGNC: 5479 AceView: IGHA2 Ensembl:ENSG00000211890 euGenes: HUgn3494
    ECgene: IGHA2 H-InvDB: IGHA2

    (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 IGHA2 Pharmacogenomics, SNPs, Pathways
    IMGT entry for IGHA2 The international ImMunoGeneTics information system® specializing in Immunoglobulins (IG), T cell receptors (TR), Major Histocompatibility Complex (MHC) and related proteins of the immune system (RPI) of human and other vertebrate species.
    IMGT/GENE-DBhttp://www.imgt.org/IMGT_GENE-DB/GENElect?query=2+IGHA2&species=Homo+sapiens

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IGHA2 gene:
    Search GeneIP for patents involving IGHA2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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