IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHG2provided by HGNC
Official Full Name: immunoglobulin heavy constant gamma 2 (G2m marker)provided by HGNC
Primary source: HGNC:HGNC:5526
See related: Ensembl:ENSG00000211893 IMGT/GENE-DB:IGHG2; MIM:147110; AllianceGenome:HGNC:5526
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105643203..105644789, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99915504..99917090, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106109540..106111126, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

stability of IgG2 C(H2 domains in the "physiological" range of temperatures (20-37 degrees C), mainly, with entropy factor
Title: [[correlation between macro- and micro-stability C(H)2 domains of human IgG2 and their biological activity. II. Calculation of thermodynamic functions characterizing domains stability].
The effect of Fc glycan forms on human IgG2 antibody clearance in humans is reported.
Title: The effect of Fc glycan forms on human IgG2 antibody clearance in humans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies.
genotypes at Immunoglobulin G2M (G2M n+,n-) loci are significantly associated with Systemic Lupus Erthematosus
Title: Immunoglobulin GM and KM genotypes in Korean patients with systemic lupus erythematosus.
Homozygosity for the G2M*n allele is strongly associated with absence of severe infections in Swedish patients with hereditary complement 2-deficiency and suggests a major protective role.
Title: Homozygosity for the IgG2 subclass allotype G2M(n) protects against severe infection in hereditary C2 deficiency.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1342 (e-PCR)
- UniSTS:54568

A010A33 (e-PCR)
- UniSTS:16020

RH71306 (e-PCR)
- UniSTS:3229

RH44825 (e-PCR)
- UniSTS:51616

Other Names

Constant region of heavy chain of IgG2
immunoglobulin gamma 2 (Gm marker)
immunoglobulin heavy constant gamma 2 (Gm marker)

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables immunoglobulin receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in B cell receptor signaling pathway	IC Inferred by Curator more info	PubMed
involved_in adaptive immune response	IC Inferred by Curator more info	PubMed
involved_in complement activation, classical pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in phagocytosis, engulfment	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in phagocytosis, recognition	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of B cell activation	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of IgG immunoglobulin complex	IC Inferred by Curator more info	PubMed
located_in blood microparticle	HDA more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IC Inferred by Curator more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of immunoglobulin complex, circulating	IBA Inferred from Biological aspect of Ancestor more info	PubMed

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.