IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHG3provided by HGNC
Official Full Name: immunoglobulin heavy constant gamma 3 (G3m marker)provided by HGNC
Primary source: HGNC:HGNC:5527
See related: Ensembl:ENSG00000211897 IMGT/GENE-DB:IGHG3; MIM:147120; AllianceGenome:HGNC:5527
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IgG3
Summary: Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: partial on reference assembly
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105765914..105771405, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (100037379..100042856, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106232251..106237742, 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?

Salivary Immunoglobulin Gamma-3 Chain C Is a Promising Noninvasive Biomarker for Systemic Lupus Erythematosus.
Title: Salivary Immunoglobulin Gamma-3 Chain C Is a Promising Noninvasive Biomarker for Systemic Lupus Erythematosus.
Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity.
Title: Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity.
Serum Proteomic Profiling Reveals Differentially Expressed IGHG3 and A1AG1 as Potential Predictors of Chemotherapeutic Response in Advanced Non-small Cell Lung Cancer.
Title: Serum Proteomic Profiling Reveals Differentially Expressed IGHG3 and A1AG1 as Potential Predictors of Chemotherapeutic Response in Advanced Non-small Cell Lung Cancer.
Using a set of samples from German, Turkish, Egyptian, and Iranian patients and controls, this study was able to demonstrate a genetic association of the p.Arg435His variation of IgG3 with Pemphigus Vulgaris risk, but not with Bullous Pemphigoid risk.
Title: The p.Arg435His Variation of IgG3 With High Affinity to FcRn Is Associated With Susceptibility for Pemphigus Vulgaris-Analysis of Four Different Ethnic Cohorts.
Results indicated that IgG1 and IgG3 autoantibodies in Immuno-related hemocytopenia (IRH) patients might play a key role in the IRH pathogenesis.
Title: Demonstration of IgG Subclass (IgG1 and IgG3) in Immuno-Related Hemocytopenia.
this study shows that IgG3 regulates tissue-like memory B cells in HIV-infected individuals
Title: IgG3 regulates tissue-like memory B cells in HIV-infected individuals.
This study provides insights into the effector functions of human IgG3 in the context of an antibody targeting TfR1.
Title: Insights into the effector functions of human IgG3 in the context of an antibody targeting transferrin receptor 1.
Logistic regression indicated that IgG3 detection was the only variable significantly related to the occurrence of RBC transfusion in autoimmune haemolytic anaemias
Title: Haemoglobin levels in autoimmune haemolytic anaemias at diagnosis: relationship with immunoproteins on red blood cells.
Immunoglobulin (Ig) GM genes - genetic markers of IgG heavy chains located on chromosome 14 - are functional risk and protective factors for AD.
Title: Immunoglobulin GM genes as functional risk and protective factors for the development of Alzheimer's disease.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association between Gm allotypes and asthma severity from childhood to young middle age.

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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 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

PMC151015P1 (e-PCR)
- UniSTS:271132

D14S1342 (e-PCR)
- UniSTS:54568

A010A33 (e-PCR)
- UniSTS:16020

RH71306 (e-PCR)
- UniSTS:3229

RH44825 (e-PCR)
- UniSTS:51616

Other Names

C gamma 3
constant region of heavy chain of IgG3
immunoglobulin gamma 3 (Gm marker)
immunoglobulin heavy constant gamma 3 (Gm marker)
secrete-type Ig gamma heavy-chain

Clone Names

FLJ39988, FLJ40036, FLJ40253, FLJ40587, FLJ40789, FLJ40834, MGC45809, DKFZp686H11213

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables immunoglobulin receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adaptive immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, classical pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of IgG immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
located_in blood microparticle	HDA 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	NAS Non-traceable Author Statement more info	PubMed
part_of immunoglobulin complex, circulating	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement 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.