IMGT Repertoire (IG and TR)


Locus representation: human (Homo sapiens) IGH locus on chromosome 14 (14q32.33) assembly GRCh37.p13

Citing this page: IMGT/LIGM-DB: BK063802 (1249050 bp), Human (Homo sapiens) IGH locus on chromosome 14.

Human (Homo sapiens) IGH locus on chromosome 14 (14q32.33) assembly GRCh37.p13

The orientation of the human (Homo sapiens) IGH locus on chromosome 14 (14q32.33) assembly GRCh37.p13 is reverse (REV).

Locus representation human (<em>Homo sapiens</em>) IGH locus on chromosome 14 (14q32.33) assembly GRCh37.p13

Legend:
Colors are according to IMGT color menu for genes.
The boxes representing the genes are not to scale. Exons are not shown.
A double slash // indicates a gap in genome assembly. Distances in bp (base pair) or in kb (kilobase) associated with a double slash are taken into account in the length of the lines and included in the numbers displayed at the right end of the lines.

SWITCH sequences are represented by a filled circle upstream of the IGHC genes.
IGHV genes which correspond to insertion/deletion polymorphisms but are not yet precisely located are not shown.

The Human (Homo sapiens) IGHV genes belong to 7 subgroups (Gene tables: Human IGHV) which are part of three clans (Figure IGHV clans). One additional clan only contains one pseudogene. Clans comprise, respectively:

  • clan I: IGHV1, IGHV5 and IGHV7 subgroup genes
  • clan II: IGHV2, IGHV4 and IGHV6 subgroup genes and 22 pseudogenes IGHV(II)
  • clan III: IGHV3 subgroup genes and 18 pseudogenes IGHV(III)
  • clan IV: Pseudogene IGHV(IV)-44-1

Zoom for D and J genes

zoom

IMGT references:
  1. [1] Lefranc, M.-P. and Lefranc, G., The immunoglobulin FactsBook, Academic Press, London, 458 pages (2001) ISBN:012441351X.
  2. [2] Lefranc, M.-P., Nomenclature of the human immunoglobulin genes, Current Protocols in Immunology, A.1P.1-A.1P.37 (2000). PMID:18432649
IGHV genes
  1. [3] Lefranc, M.-P. and Lefranc, G., The immunoglobulin FactsBook, Academic Press, London, 458 pages (2001) ISBN:012441351X.
  2. [4] Lefranc, M.-P., Nomenclature of the human immunoglobulin genes, Currents Protocols in Immunology, A.1P.1-A.1P.37 (2000). PMID:18432649
  3. [5] Shin, E.K. et al., EMBO J., 10, 3641-3645 (1991).
  4. [6] Matsuda, F. et al., Nature Genetics 3, 88-94 (1993).
  5. [7] Cook, G.P. et al., Nature Genetics, 7, 162-168 (1994).
  6. [8] Cook, G.P. and Tomlinson, I.M., Immunology to-day, 16, 237-242 (1995).
  7. [9] Matsuda, F. et al., Exp. Med., 188, 2151-2162 (1998).
  8. [10] Matsuda, F. and Honjo, T., The Immunologist, 7, 171-176 (1999).
IGHJ genes
  1. [11] Ravetch, J.V. et al., Cell, 27, 583-591 (1981).
IGHD genes
  1. [12] Siebenlist, U. et al., Nature, 294, 631-635 (1981).
  2. [13] Buluwela, L. et al., EMBO J., 7, 2003-2010 (1988).
  3. [14] Ichihara, Y. et al., EMBO J., 7, 4141-4150 (1988).
  4. [15] Corbett, S.J. et al., J. Mol. Biol., 270, 587-597 (1997).
Order of the IGHC genes
  1. [16] Flanagan, J.G. and Rabbitts,T.H., Nature, 300, 709-713 (1982).
  2. [17] Lefranc, M.-P. et al., Nature, 300, 760-762 (1982). PMID:6817143
  3. [18] Lefranc, M.-P. et al., Mol. Biol. Med., 1, 207-217 (1983). PMID:6438434
IGHC genes
  1. [19] M: Rabbitts, T.H. et al., Nucl. Acids Res., 9, 4509-4524 (1981).
  2. [20] D: White, M.B. et al., Science, 228, 733-737 (1985).
  3. [21] G3: Huck, S. et al., Nucl. Acids Res., 14, 1779-1789 (1986) PMID : 3081877; Huck, S. et al., Immunogenetics, 30, 250-257 (1989) PMID : 2571587.
  4. [22] G1: Ellison, J.W. et al., Nucl. Acids Res., 10, 4071-4079 (1982).
  5. [23] EP1: Max, E.E. et al., Cell, 29, 691-699 (1982).
  6. [24] A1: Flanagan, J.G. et al., Cell, 36, 681-688 (1984). PMID:6421489
  7. [25] GP: Bensmana, M. et al., Nucl. Acids Res., 16, 3108 (1988). PMID:3130612
  8. [26] G2: Ellison, J.W. and Hood, L.E. Proc. Natl. Acad. Sc. USA, 79, 1984-1988 (1982).
  9. [27] G4: Ellison, J.W. et al., DNA, 1, 11-18 (1981).
  10. [28] E: Flanagan, J.G. and Rabbitts, T.H., EMBO J., 1, 655-660 (1982) ; Max et al., Cell 29, 691-699 (1982).
  11. [29] A2: Flanagan, J.G. et al., Cell, 36, 681-688 (1984) PMID : 6421489; Bensmana, M. et al., Cytogenet. Cell Genet., 56, 128 (1991) PMID: 1901541.
Allelic multigene deletions
  1. [30] First CNV description for IGHC : Lefranc M-P. et al. (1982). Nature 300:760-762 PMID: 6817143 . Lefranc G. et al. (1983).Eur J Immunol 13:240-244. PMID: 6832214. Lefranc M-P. et al. (1983). Mol Biol Med 1:207-217. PMID: 6438434..
  2. [31] Keyeux G, Lefranc G, Lefranc M-P. A multigene deletion in the human IGH constant region locus involves highly homologous hot spots of recombination. Genomics 5(3):431-441 (1989).. PMID:2613231
  3. [32] Wiebe V., A Helal A.,Lefranc M-P, Lefranc G. Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E) (1994). Human Genetics, 93, 520-528.. PMID:8168828
  4. [33] Different types of IGHC multigene deletion :
    deletion I del G1-EP1-A1-GP-G2-G4,
    deletion II del EP1-A1-GP,
    deletion III del A1-GP-G2-G4-E,
    deletion IV del EP1-A1-GP-G2-G4,
    deletion V del GP-G2-G4-E-A2,
    deletion VI del G1-EP1-A1-GP-G2..
  5. [34] IGHC multigene deletions in healthy individuals..
Available cell lines with IGHC multigene deletions
  1. [35] Click here.
Allelic multigene duplications
  1. [36] Bottaro, A. et al., Immunogenetics, 37, 356-363 (1993).
Distance between the IGHC genes
  1. [37] Flanagan, J.G. and Rabbitts, T.H., Nature, 300,709-713 (1982).
Localization of IGHGP between IGHA1 and IGHG2
  1. [38] Lefranc, M.-P. et al., Mol. Biol. Med., 1, 207-217 (1983). PMID:6438434
JH-Cmu enhancer
  1. [39] Hayday, A.C. et al., Nature, 307, 334-340 (1984). PMID:6420706
3' enhancers
  1. [40] Mills, F.C. et al., J. Exp. Med., 186, 845-858 (1997).
Created:
10/04/2024
Last updated:
15/04/2025
Authors:
Ariadni Papadaki, Maria Georga, Géraldine Folch, Joumana Jabado-Michaloud, Véronique Giudicelli and Sofia Kossida