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IGH immunoglobulin heavy locus [ Homo sapiens (human) ]

Gene ID: 3492, updated on 15-Jun-2019

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
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]

Genomic context

See IGH in Genome Data Viewer
Location:
14q32.33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (105586437..106879844, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (106032614..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 uncharacterized LOC112268138 Neighboring gene ETS transcription factor ELK2B, pseudogene Neighboring gene uncharacterized LOC105378187 Neighboring gene microRNA 8071-1 Neighboring gene microRNA 8071-2 Neighboring gene immunoglobulin heavy constant alpha 2 (A2m marker) Neighboring gene uncharacterized LOC107987211 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 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 4538 Neighboring gene microRNA 4537 Neighboring gene microRNA 4507 Neighboring gene microRNA 4539 Neighboring gene immunoglobulin heavy diversity 1-26 Neighboring gene immunoglobulin heavy diversity 6-25 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 6-13 Neighboring gene immunoglobulin heavy diversity 1-14 (non-functional) Neighboring gene immunoglobulin heavy diversity 2-15 Neighboring gene immunoglobulin heavy joining 3P (pseudogene) Neighboring gene immunoglobulin heavy joining 1P (pseudogene) Neighboring gene immunoglobulin heavy diversity 5-12 Neighboring gene immunoglobulin heavy diversity 4-11 (non-functional) Neighboring gene immunoglobulin heavy joining 2P (pseudogene) 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 diversity 3-9 Neighboring gene immunoglobulin heavy joining 2 Neighboring gene immunoglobulin heavy joining 1 Neighboring gene immunoglobulin heavy joining 4 Neighboring gene immunoglobulin heavy joining 3 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 4-4 Neighboring gene immunoglobulin heavy diversity 3-3 Neighboring gene uncharacterized LOC107984634 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 (III)-13-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-64D 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 (gene/pseudogene) Neighboring gene immunoglobulin heavy variable 1-12 (pseudogene) Neighboring gene uncharacterized LOC105370700 Neighboring gene immunoglobulin heavy variable 3-13 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 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 (III)-26-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-21 Neighboring gene immunoglobulin heavy variable (II)-26-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-22 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-23 Neighboring gene long intergenic non-protein coding RNA 226 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 4-30-2 Neighboring gene immunoglobulin heavy variable (II)-33-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-27 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-28 Neighboring gene immunoglobulin heavy variable 3-29 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-33-2 (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 uncharacterized LOC112268139 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 1-46 Neighboring gene immunoglobulin heavy variable (II)-49-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-51-1 (pseudogene) 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 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 7-56 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-67-2 (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 golgin A4 pseudogene 3 Neighboring gene immunoglobulin heavy variable 3-63 (pseudogene) 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 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 immunoglobulin heavy variable 2-70 Neighboring gene immunoglobulin heavy variable 3-71 (pseudogene) 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187600.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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