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IGHD Gene

protein-coding   GIFtS: 36
GCID: GC14M106303

Immunoglobulin Heavy Constant Delta

  See IGHD-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)
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Aliases
Immunoglobulin Heavy Constant Delta1 2
Constant Region Of Heavy Chain Of IgD1
Immunoglobulin Delta1

External Ids:    HGNC: 54801   Entrez Gene: 34952   Ensembl: ENSG000002118987   OMIM: 1471705   UniProtKB: P018803   

Export aliases for IGHD gene to outside databases

Previous GC identifers: GC14U990032 GC14M104276 GC14M105375 GC14M086437


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for IGHD Gene:
IGHD (immunoglobulin heavy constant delta) is a protein-coding gene. Diseases associated with IGHD include b-cell chronic lymphocytic leukemia, and chronic lymphocytic leukemia. GO annotations related to this gene include antigen binding.

UniProtKB/Swiss-Prot: IGHD_HUMAN, P01880
Function: IgD is the major antigen receptor isotype on the surface of most peripheral B-cells, where it is
coexpressed with IgM. The membrane-bound IgD (mIgD) induces the phosphorylation of CD79A and CD79B by the Src
family of protein tyrosine kinases. Soluble IgD (sIgD) concentration in serum below those of IgG, IgA, and IgM
but much higher than that of IgE. IgM and IgD molecules present on B cells have identical V regions and
antigen-binding sites. After the antigen binds to the B-cell receptor, the secreted form sIgD is shut off. IgD is
a potent inducer of TNF, IL1B, and IL1RN. IgD also induces release of IL6, IL10, and LIF from peripheral blood
mononuclear cells. Monocytes seem to be the main producers of cytokines in vitro in the presence of IgD

Gene Wiki entry for IGHD 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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Regulatory elements:
   Search for regulatory transcription factor binding sites for IGHD
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for IGHD

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


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

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M106303:  view genomic region     (about GC identifiers)

Start:
106,303,099 bp from pter      End:
106,312,010 bp from pter
Size:
8,912 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IGHD_HUMAN, P01880 (See protein sequence)
Recommended Name: Ig delta chain C region  
Size: 384 amino acids; 42254 Da
Subunit: Immunoglobulin (Ig) molecules consist of two chains, one heavy chain (which can be alpha, delta, epsilon,
gamma or mu) and one light chain (which can be kappa or lambda) each consisting of a variable and a constant
region. An IgD molecule contains thus a delta heavy chain combined with either a kappa or a lambda light chains.
Kappa light chains are found predominantly on the membrane IgD (mIgD) form and lambda on the secreted IgD (sIgD)
form, this fact is poorly understood. Membrane-bound IgD molecules are non-covalently associated with a
heterodimer of CD79A and CD79B
Miscellaneous: IgD is not present in every species and this does not relate to phylogeny and evolution. IgD is
present in primates, dog, mouse and rat whereas it is undetectable in rabbit, guinea pig, swine, cattle, sheep
and Xenopus
1 PDB 3D structure from and Proteopedia for IGHD:
1ZVO (3D)    
Secondary accessions: Q6P4I8 Q8WU38
Alternative splicing: 2 isoforms:  P01880-1   P01880-2   

Explore the universe of human proteins at neXtProt for IGHD: NX_P01880

Explore proteomics data for IGHD at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser109, Ser110, Thr113, Thr126, Thr127, Thr131, Thr132, Asn225, Asn316, Asn367

  • See IGHD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000374998  
    Reactome Protein details: P01880

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

    5 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS
     IPR013151 Immunoglobulin

    Graphical View of Domain Structure for InterPro Entry P01880

    ProtoNet protein and cluster: P01880

    1 Blocks protein domain: IPB003597 Immunoglobulin C-type

    UniProtKB/Swiss-Prot: IGHD_HUMAN, P01880
    Similarity: Contains 3 Ig-like (immunoglobulin-like) domains


    Find genes that share domains with IGHD           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IGHD_HUMAN, P01880
    Function: IgD is the major antigen receptor isotype on the surface of most peripheral B-cells, where it is
    coexpressed with IgM. The membrane-bound IgD (mIgD) induces the phosphorylation of CD79A and CD79B by the Src
    family of protein tyrosine kinases. Soluble IgD (sIgD) concentration in serum below those of IgG, IgA, and IgM
    but much higher than that of IgE. IgM and IgD molecules present on B cells have identical V regions and
    antigen-binding sites. After the antigen binds to the B-cell receptor, the secreted form sIgD is shut off. IgD is
    a potent inducer of TNF, IL1B, and IL1RN. IgD also induces release of IL6, IL10, and LIF from peripheral blood
    mononuclear cells. Monocytes seem to be the main producers of cytokines in vitro in the presence of IgD

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding NAS6787589
    GO:0005515protein binding ----
         
    Find genes that share ontologies with IGHD           About GenesLikeMe


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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
    IGHD_HUMAN, P01880: Isoform 1: Secreted
    IGHD_HUMAN, P01880: Isoform 2: Cell membrane; Single-pass type I membrane protein

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with IGHD           About GenesLikeMe


    (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 IGHD About    
    See pathways by source

    SuperPathContained pathways About
    1Downstream Signaling Events Of B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.79
    2Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.47
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41


    Find genes that share SuperPaths with IGHD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for IGHD
        Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IGHD
    Interactions:

        Search GeneGlobe Interaction Network for IGHD

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for IGHD (ENSP000003749984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGLC2ENSP000003748564STRING: ENSP00000374856
    BCAP29ENSP000004007184STRING: ENSP00000400718
    BCAP31ENSP000003923304STRING: ENSP00000392330
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS6787589

    Find genes that share ontologies with IGHD           About GenesLikeMe



    (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 IGHD



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000390556(uc001ysj.3 uc001ysk.1 uc001ysl.1 uc001ysm.2 uc001ysn.1)

    miRNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat IGHD
      QuantiTect SYBR Green Assays in human, mouse, rat IGHD
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    Selected AceView cDNA sequences (see all 413):

    BU731251 CR611254 CR598566 AW516022 CA428437 BU616028 BU726459 CR603685 
    CR608756 BU731322 CA425161 AI453840 BX248278 AI360498 CR612254 CR604167 
    BM987706 AW328101 BF435693 CR611016 CR592950 AI707611 CR598316 BQ072420 

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


    IGHD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Mature B-Cells Peripheral Blood
     
     Lung (Respiratory System)
     
     Tonsil (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    IGHD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGHD Protein Expression
        Custom PCR Arrays for IGHD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGHD

    (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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      --

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IGHD gene
    2 SIMAP similar genes for IGHD using alignment to 1 protein entry:     IGHD_HUMAN:
    FLJ00382    HFE

    Find genes that share paralogs with IGHD           About GenesLikeMe



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    IGHD_HUMAN, P01880: The following alleles of IGHD are known: IGHD*01 and IGHD*02. They are identical at protein level

    Locus Specific Mutation Databases (LSDB): IGHD

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing IGHD
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147170    OMIM disorders: --

    2 diseases for IGHD:    
    About MalaCards
    b-cell chronic lymphocytic leukemia    chronic lymphocytic leukemia


    Find genes that share disorders with IGHD           About GenesLikeMe


    Export disorders for IGHD 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 IGHD gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with IGHD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human immunoglobulin D: genomic sequence of the delta heavy chain. (PubMed id 3922054)1, 2, 3 White M.B.... Blattner F.R. (Science 1985)
    2. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    3. Amino acid sequence of galactosamine-containing glycopeptides in the hinge region of a human immunoglobulin D. (PubMed id 7092891)1, 2 Takayasu T.... Munekata E. (Biochem. Biophys. Res. Commun. 1982)
    4. Amino acid sequence of the first constant region domain and the hinge region of the delta heavy chain of human IgD. (PubMed id 6947220)1, 2 Putnam F.W.... Lin L.-C. (Proc. Natl. Acad. Sci. U.S.A. 1981)
    5. Primary structure of the Fc region of human immunoglobulin D: implications for evolutionary origin and biological function. (PubMed id 6787589)1, 2 Lin L.-C. and Putnam F.W. (Proc. Natl. Acad. Sci. U.S.A. 1981)
    6. Complete amino acid sequence of the Fc region of a human delta chain. (PubMed id 6785754)1, 2 Shinoda T.... Shimizu A. (Proc. Natl. Acad. Sci. U.S.A. 1981)
    7. Amino acid sequence and location of the three glycopeptides in the Fc region of human immunoglobulin D. (PubMed id 7008791)1, 2 Takayasu T.... Shinoda T. (Biochem. Biophys. Res. Commun. 1980)
    8. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    9. Use of IGHJ and IGHD gene mutations in analysis of immunoglobulin sequences for the prognosis of chronic lymphocytic leukemia. (PubMed id 17169423)1 Lee C.E....Collins A.M. (Leuk. Res. 2007)
    10. Characterization of the IgD binding site of encapsulated Haemophilus influenzae serotype b. (PubMed id 17475860)1 Samuelsson M....Riesbeck K. (J. Immunol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3495 HGNC: 5480 AceView: IGHD_ Ensembl:ENSG00000211898 euGenes: HUgn3495
    ECgene: IGHD H-InvDB: IGHD

    (According to HUGE)
    About This Section

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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 IGHD Pharmacogenomics, SNPs, Pathways
    IMGT entry for IGHD 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+IGHD&species=Homo+sapiens

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for IGHD   OriGene Custom Protein Services for IGHD  

     
     
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     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGHD Predesigned siRNA for gene silencing in human, mouse, rat IGHD
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     Custom PCR Arrays for IGHD Search Chromatin IP Primers for IGHD
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat IGHD  Search GeneGlobe Interaction Network for IGHD
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     GenScript Custom Purified and Recombinant Proteins Services for IGHD GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for IGHD
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     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for IGHD
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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     Browse Proteins at Cloud-Clone Corp.
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     Browse ESI BIO Cell Lines and PureStem Progenitors for IGHD
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for IGHD
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     Search ThermoFisher Antibodies for IGHD
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat IGHD
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IGHD
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IGHD
     LSBio Antibodies in human, mouse, rat for IGHD
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     Search Addgene for plasmids for IGHD
      Search eBioscience for proteins for IGHD
      Search eBioscience for elisas for IGHD
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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