Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segmen... See more...

Aliases for IGH Gene

Aliases for IGH Gene

  • Immunoglobulin Heavy Locus 2 3
  • Immunoglobulin Heavy Polypeptide, Joining Region 3
  • Immunglobulin Heavy Chain Variable Region 3
  • Immunoglobulin Heavy Diversity Cluster 3
  • Immunoglobulin Heavy Variable Cluster 3
  • D (Diversity) Region Of Heavy Chains 3
  • Immunoglobulin Heavy Diversity Group 3
  • Immunoglobulin Heavy Diversity Locus 3
  • Immunoglobulin Heavy Joining Cluster 3
  • Immunoglobulin Heavy Variable Group 3
  • J (Joining) Region Of Heavy Chains 3
  • Immunoglobulin Heavy Joining Group 3
  • Immunglobulin Heavy Chain 13
  • IGH.1@ 3
  • IGHDY1 3
  • IGHD@ 3
  • IGHJ@ 3
  • IGHV@ 3
  • IGD1 3
  • IGH@ 3
  • IGHJ 3
  • IGHV 3

External Ids for IGH Gene

Previous HGNC Symbols for IGH Gene

  • IGHDY1
  • IGH@

Previous GeneCards Identifiers for IGH Gene

  • GC14M106034
  • GC14M105584
  • GC14M105611
  • GC14M105752
  • GC14M105761
  • GC14M105776
  • GC14M105824
  • GC14M105629
  • GC14M105638
  • GC14M105660
  • GC14M105674
  • GC14M105680
  • GC14M105705
  • GC14M105726
  • GC14M105739

Summaries for IGH Gene

Entrez Gene Summary for IGH Gene

  • Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]

GeneCards Summary for IGH Gene

IGH (Immunoglobulin Heavy Locus) is a Protein Coding gene. Diseases associated with IGH include Leukemia, Acute Lymphoblastic 3 and Lymphoma, Mucosa-Associated Lymphoid Type. Among its related pathways are Immune response Fc epsilon RI pathway and Immune response Role of DAP12 receptors in NK cells.

Gene Wiki entry for IGH Gene

Additional gene information for IGH Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGH Gene

Genomics for IGH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J106874 Enhancer 0.9 Ensembl ENCODE 0.7 +2.8 2831 5.2 CTCF PRDM10 ZNF143 ZIC2 PKNOX1 ZNF501 TRIM22 SCRT2 DPF2 SMARCA5 IGHV7-81 IGHV2-70D IGH IGHVIII-82 lnc-BRF1-42 lnc-BRF1-78
GH14J106872 Promoter/Enhancer 1.3 Ensembl ENCODE 0.4 +6.7 6653 1.6 CREB1 PRDM10 ZNF629 CTCF ZNF692 FOXA1 ZNF143 ZIC2 RXRB RAD21 IGHV4-80 IGHV7-81 lnc-BRF1-42 lnc-BRF1-77 IGHV2-70D IGH IGHV3-74
GH14J106843 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 0.3 +34.3 34254 4.1 GATAD2A ZNF629 TFE3 NFKBIZ POLR2A RCOR2 BACH1 ZHX2 ZNF300 FOXA1 IGHV2-70D MIR5195 IGHVIII-76-1 IGHV7-81 lnc-BRF1-42 IGH IGHV3-74
GH14J106850 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 0.3 +28.5 28536 1.3 IKZF2 POLR2A YY1 ARID3A ZSCAN29 RUNX3 TCF12 EBF1 TBP REST IGHV5-78 MIR5195 lnc-BRF1-42 IGHV7-81 IGH IGHV3-74
GH14J106830 Enhancer 0.9 Ensembl ENCODE 0.3 +49.0 49010 0.5 CTCF ZBTB33 BACH1 ZNF143 RAD21 TRIM22 GTF2F1 YY1 PKNOX1 SMARCA5 IGHVIII-76-1 lnc-BRF1-74 IGHV2-70D IGHV3-76 IGHV3-74 IGHV7-81 lnc-BRF1-42 IGH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGH on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for IGH Gene

Genomic Locations for IGH Gene
chr14:105,586,437-106,879,844
(GRCh38/hg38)
Size:
1,293,408 bases
Orientation:
Minus strand
chr14:106,032,614-107,288,051
(GRCh37/hg19)
Size:
1,255,438 bases
Orientation:
Minus strand

Genomic View for IGH Gene

Genes around IGH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGH Gene

Proteins for IGH Gene

  • Protein details for IGH Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A2MZT1-A2MZT1_HUMAN
    Recommended name:
    Immunglobulin heavy chain
    Protein Accession:
    A2MZT1

    Protein attributes for IGH Gene

    Size:
    8 amino acids
    Molecular mass:
    943 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IGH Gene

Post-translational modifications for IGH Gene

No Post-translational modifications

No data available for DME Specific Peptides for IGH Gene

Domains & Families for IGH Gene

Gene Families for IGH Gene

Protein Domains for IGH Gene

ProtoNet:

Suggested Antigen Peptide Sequences for IGH Gene

GenScript: Design optimal peptide antigens:
  • Immunglobulin heavy chain (A2MZT1_HUMAN)
  • Immunglobulin heavy chain (A2N192_HUMAN)
  • Cold agglutinin FS-1 H-chain (A2NB43_HUMAN)
  • Cold agglutinin FS-2 H-chain (A2NB44_HUMAN)
  • IGH@ protein (Q6GMX6_HUMAN)
genes like me logo Genes that share domains with IGH: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGH Gene

Function for IGH Gene

Phenotypes From GWAS Catalog for IGH Gene

Human Phenotype Ontology for IGH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGH Gene

Localization for IGH Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for IGH Gene

Pathways & Interactions for IGH Gene

PathCards logo

SuperPathways for IGH Gene

SuperPathway Contained pathways
1 Immune response Fc epsilon RI pathway
.44
.44
2 Immune response Role of DAP12 receptors in NK cells
.32
3 Immune response Lectin induced complement pathway
.55
4 Development IGF-1 receptor signaling
.38
5 Immune response NFAT in immune response
.56
genes like me logo Genes that share pathways with IGH: view

Pathways by source for IGH Gene

7 GeneGo (Thomson Reuters) pathways for IGH Gene
  • Immune response BCR pathway
  • Immune response CD16 signaling in NK cells
  • Immune response Classical complement pathway
  • Immune response Fc epsilon RI pathway
  • Immune response IL-4 signaling pathway

Interacting Proteins for IGH Gene

Gene Ontology (GO) - Biological Process for IGH Gene

None

No data available for SIGNOR curated interactions for IGH Gene

Drugs & Compounds for IGH Gene

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IGH: view

Transcripts for IGH Gene

mRNA/cDNA for IGH Gene

7 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for IGH Gene

No ASD Table

Relevant External Links for IGH Gene

GeneLoc Exon Structure for
IGH

Expression for IGH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGH

SOURCE GeneReport for Unigene cluster for IGH Gene:

Hs.699841
genes like me logo Genes that share expression patterns with IGH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGH Gene

Orthologs for IGH Gene

No data available for Orthologs and Evolution for IGH Gene

Paralogs for IGH Gene

No data available for Paralogs for IGH Gene

Variants for IGH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGH Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
810941 Benign: Agammaglobulinemia, non-Bruton type 105,855,041(-) A/G
811340 Likely Benign: Agammaglobulinemia, non-Bruton type 105,854,900(-) G/T
rs113762053 Benign: Agammaglobulinemia, non-Bruton type 105,855,988(-) G/C
rs201981439 Benign: Agammaglobulinemia, non-Bruton type 105,856,156(-) C/T
rs267606871 Pathogenic: Agammaglobulinemia, non-Bruton type 105,854,468(-) A/C

Additional Variant Information for IGH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGH Gene

Disorders for IGH Gene

MalaCards: The human disease database

(20) MalaCards diseases for IGH Gene - From: Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute lymphoblastic 3
  • burkitt lymphoma
lymphoma, mucosa-associated lymphoid type
  • malt lymphoma
mantle cell lymphoma
  • mcl
follicular lymphoma 1
  • follicular lymphoma, susceptibility to, 1
orbital lymphoma
  • lymphoma of the orbit
- elite association - COSMIC cancer census association via MalaCards
Search IGH in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with IGH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IGH Gene

Publications for IGH Gene

  1. Characterization of genetic lesions in apoptosis-regulating and proliferation control genes in diffuse large B-cell non-Hodgkin's lymphoma. (PMID: 20160358) Pervez S … Siddiqui T (Journal of cancer research and therapeutics 2009) 3 23
  2. Molecular cytogenetic analysis of chromosomal breakpoints in the IGH, MYC, BCL6, and MALT1 gene loci in primary cutaneous B-cell lymphomas. (PMID: 15191563) Hallermann C … Neumann C (The Journal of investigative dermatology 2004) 3 23
  3. IGH translocations in chronic lymphocytic leukemia: Clinicopathologic features and clinical outcomes. (PMID: 30575108) Fang H … Parikh SA (American journal of hematology 2019) 3
  4. Long-read sequencing unveils IGH-DUX4 translocation into the silenced IGH allele in B-cell acute lymphoblastic leukemia. (PMID: 31243274) Tian L … Zhang J (Nature communications 2019) 3
  5. Endosomal Rab cycles regulate Parkin-mediated mitophagy. (PMID: 29360040) Yamano K … Youle RJ (eLife 2018) 3

Products for IGH Gene

Sources for IGH Gene