IGHG2

immunoglobulin heavy constant gamma 2 (G2m marker), the group of Immunoglobulin heavy locus at 14q32.33

Basic information

Region (hg38): 14:105639558-105644790

Links

ENSG00000211893 ∙ NCBI:3501 ∙ OMIM:147110 ∙ HGNC:5526 ∙ Uniprot:P01859 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• recurrent infections associated with rare immunoglobulin isotypes deficiency (Supportive), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IGHG2 gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGHG2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense				2		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in IGHG2

This is a list of pathogenic ClinVar variants found in the IGHG2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-105643209-A-AC		Decreased circulating IgG2 level	Pathogenic (Feb 01, 1998)
14-105644563-G-C			Likely benign (Dec 01, 2022)
14-105644567-T-C			Likely benign (Dec 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.
• Pathway: FCGR activation;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;Innate Immune System;Immune System;Initial triggering of complement;Classical antibody-mediated complement activation;Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Creation of C4 and C2 activators;Complement cascade (Consensus)

Haploinsufficiency Scores

• ghis: 0.401

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene ontology

• Biological process: proteolysis;phagocytosis, recognition;phagocytosis, engulfment;complement activation;complement activation, classical pathway;regulation of complement activation;Fc-gamma receptor signaling pathway involved in phagocytosis;defense response to bacterium;innate immune response;B cell receptor signaling pathway;positive regulation of B cell activation
• Cellular component: extracellular region;extracellular space;external side of plasma membrane;immunoglobulin complex, circulating;extracellular exosome;blood microparticle
• Molecular function: antigen binding;serine-type endopeptidase activity;protein binding;immunoglobulin receptor binding