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Gene: IGH (immunoglobulin heavy locus) Homo sapiens
Symbol: IGH
Name: immunoglobulin heavy locus
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: D (diversity) region of heavy chains; DKFZp686C15213; DKFZp686K04218; DKFZp686L19235; DKFZp686M08189; FLJ41981; FLJ43089; FLJ44381; IGD1; IGH.1@; IGH@; IGHD@; IGHDY1; IGHJ; IGHJ@; IGHV; IGHV@; 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; J (joining) region of heavy chains; MGC70893; MGC72071; MGC88774
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh3814105,586,437 - 106,879,844 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3714106,032,614 - 107,288,051 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera1486,075,380 - 87,241,089 (-)NCBI
Cytogenetic Map14q32.33NCBI
HuRef1486,298,596 - 87,059,772 (-)NCBIHuRef
CHM1_114106,050,078 - 107,216,798 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Phenotype Annotations
References - curated
References - uncurated


Position Markers



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on IGH
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735342
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.