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    IGH immunoglobulin heavy locus [ Homo sapiens (human) ]

    Gene ID: 3492, updated on 10-Dec-2024

    Summary

    Official Symbol
    IGHprovided by HGNC
    Official Full Name
    immunoglobulin heavy locusprovided by HGNC
    Primary source
    HGNC:HGNC:5477
    See related
    MIM:146910; MIM:147010; MIM:147070; AllianceGenome:HGNC:5477
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGD1; IGH@; IGHJ; IGHV; IGHD@; IGHJ@; IGHV@; IGH.1@; IGHDY1
    Summary
    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]
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    Genomic context

    See IGH in Genome Data Viewer
    Location:
    14q32.33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105586437..106879844, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99839469..101155136, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (106052774..107288051, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370698 Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 1 Neighboring gene ETS transcription factor ELK2B, pseudogene Neighboring gene microRNA 8071-1 Neighboring gene microRNA 8071-2 Neighboring gene immunoglobulin heavy constant alpha 2 (A2m marker) Neighboring gene immunoglobulin heavy constant epsilon Neighboring gene immunoglobulin heavy constant gamma 4 (G4m marker) Neighboring gene uncharacterized LOC105378184 Neighboring gene immunoglobulin heavy constant gamma 2 (G2m marker) Neighboring gene ETS transcription factor ELK2A, pseudogene Neighboring gene immunoglobulin heavy constant gamma P (non-functional) Neighboring gene MPRA-validated peak2261 silencer Neighboring gene ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 1 Neighboring gene immunoglobulin heavy constant epsilon P1 (pseudogene) Neighboring gene immunoglobulin heavy constant alpha 1 Neighboring gene immunoglobulin heavy constant gamma 1 (G1m marker) Neighboring gene immunoglobulin heavy constant gamma 3 (G3m marker) Neighboring gene immunoglobulin heavy diversity 7-27 Neighboring gene microRNA 4537 Neighboring gene microRNA 4538 Neighboring gene microRNA 4539 Neighboring gene microRNA 4507 Neighboring gene immunoglobulin heavy diversity 6-25 Neighboring gene immunoglobulin heavy diversity 1-26 Neighboring gene immunoglobulin heavy diversity 3-22 Neighboring gene immunoglobulin heavy diversity 4-23 (non-functional) Neighboring gene immunoglobulin heavy diversity 5-24 (non-functional) Neighboring gene immunoglobulin heavy diversity 2-21 Neighboring gene immunoglobulin heavy diversity 5-18 Neighboring gene immunoglobulin heavy diversity 6-19 Neighboring gene immunoglobulin heavy diversity 1-20 Neighboring gene immunoglobulin heavy diversity 3-16 Neighboring gene immunoglobulin heavy diversity 4-17 Neighboring gene immunoglobulin heavy diversity 2-15 Neighboring gene immunoglobulin heavy diversity 1-14 (non-functional) Neighboring gene immunoglobulin heavy diversity 6-13 Neighboring gene immunoglobulin heavy joining 3P (pseudogene) Neighboring gene immunoglobulin heavy joining 1P (pseudogene) Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:106445918-106447117 Neighboring gene immunoglobulin heavy joining 2P (pseudogene) Neighboring gene immunoglobulin heavy diversity 5-12 Neighboring gene immunoglobulin heavy diversity 4-11 (non-functional) Neighboring gene immunoglobulin heavy diversity 3-10 Neighboring gene immunoglobulin heavy variable (II)-1-1 (pseudogene) Neighboring gene immunoglobulin heavy constant delta Neighboring gene immunoglobulin heavy joining 5 Neighboring gene immunoglobulin heavy joining 6 Neighboring gene immunoglobulin heavy joining 1 Neighboring gene immunoglobulin heavy joining 2 Neighboring gene immunoglobulin heavy joining 3 Neighboring gene immunoglobulin heavy joining 4 Neighboring gene immunoglobulin heavy diversity 3-9 Neighboring gene immunoglobulin heavy diversity 2-8 Neighboring gene immunoglobulin heavy constant mu Neighboring gene immunoglobulin heavy diversity 1-7 Neighboring gene immunoglobulin heavy diversity 6-6 Neighboring gene immunoglobulin heavy diversity 5-5 Neighboring gene immunoglobulin heavy diversity 3-3 Neighboring gene immunoglobulin heavy diversity 4-4 Neighboring gene immunoglobulin heavy diversity 1-1 Neighboring gene immunoglobulin heavy diversity 2-2 Neighboring gene immunoglobulin heavy variable (III)-2-1 (pseudogene) Neighboring gene family with sequence similarity 30 member A Neighboring gene immunoglobulin heavy variable 6-1 Neighboring gene immunoglobulin heavy variable (III)-5-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-5-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-2 Neighboring gene immunoglobulin heavy variable 7-4-1 Neighboring gene ribosomal protein S8 pseudogene 1 Neighboring gene immunoglobulin heavy variable 1-3 Neighboring gene ADAM metallopeptidase domain 6 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-4 Neighboring gene immunoglobulin heavy variable (III)-11-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 2-5 Neighboring gene immunoglobulin heavy variable 3-64D Neighboring gene immunoglobulin heavy variable (III)-13-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 5-10-1 Neighboring gene immunoglobulin heavy variable 3-6 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-7 Neighboring gene immunoglobulin heavy variable (III)-16-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-15-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-11 Neighboring gene uncharacterized LOC105370700 Neighboring gene immunoglobulin heavy variable 1-12 (pseudogene) Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:106657005-106658204 Neighboring gene immunoglobulin heavy variable 3-13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:106662526-106663725 Neighboring gene immunoglobulin heavy variable 1-14 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-15 Neighboring gene immunoglobulin heavy variable (II)-20-1 (pseudogene) Neighboring gene solute carrier family 20 member 1 pseudogene 2 Neighboring gene immunoglobulin heavy variable 3-16 (non-functional) Neighboring gene immunoglobulin heavy variable 1-17 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-18 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:106714469-106714636 Neighboring gene immunoglobulin heavy variable (III)-22-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-19 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-22-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-20 Neighboring gene immunoglobulin heavy variable (III)-25-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-21 Neighboring gene immunoglobulin heavy variable (III)-26-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-22 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-26-2 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 226 Neighboring gene immunoglobulin heavy variable 3-23 Neighboring gene immunoglobulin heavy variable (II)-28-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-24 Neighboring gene immunoglobulin heavy variable (II)-30-21 (pseudogene) Neighboring gene HOMER2 pseudogene 2 Neighboring gene immunoglobulin heavy variable (II)-30-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-25 (pseudogene) Neighboring gene immunoglobulin heavy variable 2-26 Neighboring gene immunoglobulin heavy variable 3-30-2 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-33-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-30-2 Neighboring gene immunoglobulin heavy variable 7-27 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-28 Neighboring gene uncharacterized LOC124903400 Neighboring gene immunoglobulin heavy variable 3-33-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-29 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-30 Neighboring gene golgin A4 pseudogene 2 Neighboring gene immunoglobulin heavy variable 7-34-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-38-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-32 (pseudogene) Neighboring gene golgin A4 pseudogene 1 Neighboring gene immunoglobulin heavy variable 3-33 Neighboring gene immunoglobulin heavy variable 4-34 Neighboring gene immunoglobulin heavy variable (II)-40-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-35 (non-functional) Neighboring gene immunoglobulin heavy variable 3-36 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-37 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-38 (non-functional) Neighboring gene immunoglobulin heavy variable (II)-43-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-39 Neighboring gene immunoglobulin heavy variable 7-40 (pseudogene) Neighboring gene immunoglobulin heavy variable (IV)-44-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-44-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-41 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-44 (pseudogene) Neighboring gene HOMER2 pseudogene 1 Neighboring gene immunoglobulin heavy variable (III)-47-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-46-1 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 221 Neighboring gene immunoglobulin heavy variable 3-42 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-43 Neighboring gene immunoglobulin heavy variable 1-45 Neighboring gene immunoglobulin heavy variable (II)-49-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-46 Neighboring gene immunoglobulin heavy variable 3-47 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-51-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-48 Neighboring gene immunoglobulin heavy variable (II)-53-1 (pseudogene) Neighboring gene immunoglobulin heavy variable IGHV8-51-1 (non-functional) Neighboring gene immunoglobulin heavy variable 3-49 Neighboring gene immunoglobulin heavy variable 3-50 (pseudogene) Neighboring gene immunoglobulin heavy variable 5-51 Neighboring gene immunoglobulin heavy variable (II)-60-1 (pseudogene) Neighboring gene uncharacterized LOC102724977 Neighboring gene immunoglobulin heavy variable 3-52 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-53 Neighboring gene immunoglobulin heavy variable (II)-62-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-54 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-55 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-67-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-56 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-65-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-57 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-67-3 (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 389 Neighboring gene immunoglobulin heavy variable (III)-67-4 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-58 Neighboring gene immunoglobulin heavy variable 4-59 Neighboring gene immunoglobulin heavy variable (II)-67-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-60 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-61 Neighboring gene immunoglobulin heavy variable 3-62 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-63 (pseudogene) Neighboring gene golgin A4 pseudogene 3 Neighboring gene immunoglobulin heavy variable 3-64 Neighboring gene solute carrier family 20 member 1 pseudogene 1 Neighboring gene immunoglobulin heavy variable 3-65 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-66 Neighboring gene immunoglobulin heavy variable 1-67 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-69-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-69-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9151 Neighboring gene immunoglobulin heavy variable 1-68 (pseudogene) Neighboring gene immunoglobulin heavy variable 2-70D Neighboring gene immunoglobulin heavy variable 1-69 Neighboring gene immunoglobulin heavy variable 1-69D Neighboring gene immunoglobulin heavy variable (III)-76-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-74-1 (pseudogene) Neighboring gene uncharacterized LOC124903399 Neighboring gene immunoglobulin heavy variable 2-70 Neighboring gene immunoglobulin heavy variable 3-71 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9152 Neighboring gene immunoglobulin heavy variable 3-72 Neighboring gene immunoglobulin heavy variable (II)-78-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-73 Neighboring gene immunoglobulin heavy variable 3-74 Neighboring gene immunoglobulin heavy variable (III)-82 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-75 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-76 (pseudogene) Neighboring gene immunoglobulin heavy variable 5-78 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-79 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-80 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-81 (non-functional) Neighboring gene microRNA 5195

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis.
    EBI GWAS Catalog
    Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • D (diversity) region of heavy chains
    • J (joining) region of heavy chains
    • immunglobulin heavy chain variable region
    • immunoglobulin heavy diversity cluster
    • immunoglobulin heavy diversity group
    • immunoglobulin heavy diversity locus
    • immunoglobulin heavy joining cluster
    • immunoglobulin heavy joining group
    • immunoglobulin heavy polypeptide, joining region
    • immunoglobulin heavy variable cluster
    • immunoglobulin heavy variable group

    Clone Names

    • FLJ41981, FLJ43089, FLJ44381, MGC70893, MGC72071, MGC88774, DKFZp686C15213, DKFZp686K04218, DKFZp686L19235, DKFZp686M08189

    General protein information

    Names
    immunoglobulin heavy locus
    D (diversity) region of heavy chains
    J (joining) region of heavy chains
    immunglobulin heavy chain variable region
    immunoglobulin heavy diversity cluster
    immunoglobulin heavy diversity group
    immunoglobulin heavy diversity locus
    immunoglobulin heavy joining cluster
    immunoglobulin heavy joining group
    immunoglobulin heavy polypeptide, joining region
    immunoglobulin heavy variable cluster
    immunoglobulin heavy variable group

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_001019.6 

      Range
      501..1293908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105586437..106879844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187600.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      54793..1351393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99839469..101155136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)