Number of germline genes and potential repertoire: Human IGHV at 14q32.33

Print of this table: Pallarès, N. et al., Exp. Clin. Immunogenet., 16, 36-60 (1999). PMID:10087405
UPDATE: Human IGHV (10/2002, 12/2009)

References:
Matsuda et al. J. Exp. Med., 188, 2151-2161 (1998) PMID:9841928 and references in Human Germline IGHV gene table
The Immunoglobulin FactsBook (2001) Academic Press, London, UK (458 pages).

Subgroup FunctionalORF Pseudogene Total
IGHV1 9-11* 0-1** 5 14-17**
IGHV2 2**(+1)* 0(+1)* 1 4-5**
IGHV3 17-22**(+2)* 3-4**(+2)* 24-30**(+2)* 47-59**
IGHV4 6-10**(+1)* 0(+1)*2 9-13**
IGHV5 1-2** -1 2-3**
IGHV6 1 - - 1
IGHV7 0-1** 1 4-5** 5-7**
IGHV(II) - - 22-28** 22-28**
IGHV(III) - - 18-20** 18-20**
IGHV(IV) - - 1 1
Total 36-49**(+4)* 4-6**(+4)* 78-93**(+2)* 123-154**

* An asterisk indicates that the following genes have alleles with different functionalities:
FUNCTIONAL or PSEUDOGENE (IGHV3-11).
FUNCTIONAL or ORF (IGHV4-61, IGHV2-70, IGHV3-20).
PSEUDOGENE or ORF (IGHV3-25).

** Two asterisks indicate allelic polymorphisms by insertion/deletion which concern:
    - an insertion of 4 genes between IGHV2-70 and IGHV1-69 (IGHV1-69D, IGHV1-69-2, IGHV3-69-1, IGHV2-70D)
    - an insertion of up to 9 genes between IGHV4-39 and IGHV(III)-38-1 (IGHV1-38-4, IGHV(III)-38-1D, IGHV3-38-3, IGHV(III)-44D, IGHV(III)-43-1D, IGHV3-43D, IGHV3-42D, IGHV7-40D, IGHV4-38-2)
    - an insertion of up to 13 genes between IGHV4-31 and IGHV3-30-2 (IGHV3-30-52, IGHV(II)-30-51, IGHV3-30-5, IGHV3-30-42, IGHV(II)-30-41, IGHV4-30-4, IGHV3-30-33, IGHV(II)-30-32, IGHV3-30-3, IGHV3-30-22, IGHV(II)-30-21, IGHV4-30-2, IGHV4-30-1) in 45% Caucasoïdes
    - an insertion of 2 genes between IGHV1-24 and IGHV3-23 (IGHV3-23D, IGHV(II)-23-2)
    - an alternative insertion of IGHV5-10-1 and IGHV3-64D or IGHV2-10, IGHV3-9 and IGHV1-8
    - the IGHV7-4-1 gene.

  • The 31 inserted/deleted IGHV genes belonging to 6 or 7 subgroups:

    Subgroup Gene name Functionality Gene order in the locus Total
    IGHV1 IGHV1-69D F 17 3
    IGHV1-69-2 F 18
    IGHV1-38-4 ORF 71
    IGHV2 IGHV2-70D F 20 1
    IGHV3 IGHV3-38-3 ORF 73 12
    IGHV3-43D F 76
    IGHV3-30-5 F 96
    IGHV3-30-3 F 102
    IGHV3-23D F 121
    IGHV3-64D F 148
    IGHV3-69-1 P 19
    IGHV3-42D P 77
    IGHV3-30-52 P 94
    IGHV3-30-42 P 97
    IGHV3-30-33 P 100
    IGHV3-30-22 P 103
    IGHV4 IGHV4-38-2 F 79 4
    IGHV4-30-4 F 99
    IGHV4-30-2 F 105
    IGHV4-30-1 F 106
    IGHV5 IGHV5-10-1 F 1471
    IGHV6 - - - -
    IGHV7 IGHV7-40D P 78 2
    IGHV7-4-1 F 154
    IGHV(II) IGHV(II)-43-1D P 75 6
    IGHV(II)-30-51 P 95
    IGHV(II)-30-41 P 98
    IGHV(II)-30-32 P 101
    IGHV(II)-30-21 P 104
    IGHV(II)-23-2 P 122
    IGHV(III) IGHV(III)-38-1D P 72 2
    IGHV(III)-44D P 74
    IGHV(IV) - - - -

    II, III, IV (in parentheses) refer to the clans, for the pseudogenes which could not be assigned to subgroups with functional genes. All these pseudogenes have truncations. Clans comprise, respectively:
    - clan I: IGHV1, IGHV5 and IGHV7 subgroup genes
    - clan II: IGHV2, IGHV4 and IGHV6 subgroup genes, and pseudogenes IGHV(II)
    - clan III: IGHV3 subgroup genes, and pseudogenes IGHV(III)
    - clan IV: one pseudogene IGHV(IV)-44.

    The 3 non-localized genes are not included in this table: 1 of them is functional (IGHV3-NL1) and the others are pseudogenes (IGHV1-NL1, IGHV7-NL1).

    Created: 09/04/1997
    Last updated: Wednesday, 12-Jun-2024 16:02:37 CEST
    Authors: Dominique Scaviner, Nathalie Pallarès, Imène Chentli, Géraldine Folch, Marie-Paule Lefranc