IMGT Repertoire (IG and TR) 1. Locus and genes

IMGT groups and links with HGNC, NCBI Gene and OMIM

There are 10 IMGT groups for the human immunoglobulin (IG) genes:

The IGHV, IGHD, IGHJ and IGHC groups comprise genes belonging to the IGH locus (Immunoglobulin heavy locus) at 14q32.33.
In addition, the IGHV group comprises genes of the IGHV/OR15 and IGHV/OR16 chromosomal orphon sets, the IGHD group comprises genes of the IGHD/OR15 chromosomal orphon set, and the IGHC group comprises the IGHC/OR9 chromosomal orphon set represented by a single orphon which is a processed gene.
The IGKV, IGKJ and IGKC groups comprise genes belonging to the IGK locus (Immunoglobulin kappa locus) at 2p11.2.
In addition, the IGKV group comprises genes of the IGKV/OR1, IGKV/OR2, IGKV/OR15, IGKV/OR22 and IGKV/NL chromosomal orphon sets.
The IGLV, IGLJ and IGLC groups comprise genes belonging to the IGL locus (Immunoglobulin lambda locus) at 22q11.2.
In addition, the IGLV group comprises genes of the IGLV/OR8 and IGLV/OR22 chromosomal orphon sets, and the IGLC group comprises genes of the IGLC/OR22 chromosomal orphon sets.

Click on the 'IMGT group name' for the corresponding Gene tables.

IMGT group name	IMGT group definition	HGNC	NCBI Gene	OMIM
IGHC	Immunoglobulin heavy constant group	-	-	- (2-3)
IGHD	Immunoglobulin heavy diversity group	IGHD	50648	146910
IGHJ	Immunoglobulin heavy joining group	IGHJ	3506	147010
IGHV	Immunoglobulin heavy variable group	IGHV	3509	147070
IGKC (1)	Immunoglobulin kappa constant group (1)	-	-	- (3)
IGKJ	Immunoglobulin kappa joining group	IGKJ	7842	146970
IGKV	Immunoglobulin kappa variable group	IGKV	3519	146980
IGLC	Immunoglobulin lambda constant group	IGLC	3536	147220
IGLJ	Immunoglobulin lambda joining group	IGLJ	8217	147230
IGLV	Immunoglobulin lambda variable group	IGLV	3546	147240

IMGT gene designation	IMGT definition	OMIM	Other related OMIM entries
IMGT gene designation	IMGT definition	OMIM	on regulation	on diseases
IGHA1	Immunoglobulin heavy constant alpha 1 gene	146900	137050 144120	137100 161950
IGHA2	Immunoglobulin heavy constant alpha 2 gene (A2m marker)	147000
IGHD	Immunoglobulin heavy constant delta gene	147170	242890
IGHE	Immunoglobulin heavy constant epsilon gene	147180	147061
IGHG1	Immunoglobulin heavy constant gamma 1 gene (G1m marker)	147100	144120
IGHG2	Immunoglobulin heavy constant gamma 2 gene (G2m marker)	147110
IGHG3	Immunoglobulin heavy constant gamma 3 gene (G3m marker)	147120
IGHG4	Immunoglobulin heavy constant gamma 4 gene (G4m marker)	147130
IGHGP	Immunoglobulin heavy constant gamma P gene	-
IGHM	Immunoglobulin heavy constant mu gene	147020	308250	180330 308230
IGKC	Immunoglobulin kappa constant gene	147200

IMGT notes:
(1)	Group containing a single gene.
(2)	There is no IGHC group entry in OMIM but an entry for each of the 9 functional IGHC genes.
(3)	Gene entries in OMIM: There are 10 individual IG gene entries in OMIM, 9 for the IGH locus and 1 for the IGK locus. Links between IMGT, NCBI Gene and OMIM for the genes shown in this table are available in the Lists of human IG and TR genes, groups, loci and orphons.

Reference:
[1]	Lefranc, M.-P. and Lefranc, G., The Immunoglobulin FactsBook, Academic Press, 458 pages (2001) ISBN: 012441351X.

See also: