Result Filters
Chromosome locations
Clear
S
I
D
E
B
A
R
- Official
Symbol
- IGHJ@provided by HGNC
- Official
Full Name
- immunoglobulin heavy joining clusterprovided by HGNC
- Primary source
-
HGNC:HGNC:5531
- See related
-
MIM:147010
- Gene type
- other
- Organism
-
Homo sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
- Also known as
- IGHJ
- Summary
- Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (e.g., IGHG1; MIM 147100), that provides effector or signaling functions. The heavy chain V region is encoded by 3 types of genes: V genes (see MIM 147070), joining (J) genes, and diversity (D) genes (see MIM 146910). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The heavy chain locus on chromosome 14 contains approximately 40 functional V genes, followed by approximately 25 functional D genes and approximately 6 functional J genes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]
-
NEW
-
Try the new Gene table
Try the new Transcript table