FCGR2C Fc gamma receptor IIc (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: FCGR2Cprovided by HGNC
Official Full Name: Fc gamma receptor IIc (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:15626
See related: MIM:612169; AllianceGenome:HGNC:15626
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD32; FCG2; CD32C; CDW32; IGFR2; FCRIIC; FcgammaRIIc
Summary: This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 2012]
Annotation information: Annotation category: suggests misassembly; Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.; Note: This gene contains a polymorphism which is well-represented in the population. One allele contains an early stop codon, making it subject to nonsense-mediated mRNA decay (NMD), and the other encodes a functioning protein. Since both alleles appear in the population (PMID:12215903), both the non-coding and coding variants are represented. [13 Feb 2013]
Expression: Biased expression in placenta (RPKM 73.0), appendix (RPKM 16.5) and 6 other tissues See more
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Genomic context

Location:: 1q23.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161581339..161601220)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160925677..160945560)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161551129..161571010)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An HIV Vaccine Protective Allele in FCGR2C Associates With Increased Odds of Perinatal HIV Acquisition.
Title: An HIV Vaccine Protective Allele in FCGR2C Associates With Increased Odds of Perinatal HIV Acquisition.
In a cohort of HIV-1-infected South African controllers (n = 71) and progressors (n = 73), the c.134-96C>T minor allele significantly associated with increased odds of HIV-1 disease progression; these data provide additional evidence towards a role for FCGR2C c.134-96C>T in the context of HIV-1.
Title: The FCGR2C allele that modulated the risk of HIV-1 infection in the Thai RV144 vaccine trial is implicated in HIV-1 disease progression.
When higher-affinity genotypes for FCGR2A, FCGR3A, and FCGR2C were considered together, they were associated with significantly increased tumor shrinkage and prolonged survival in response to HD-IL2... this is the first study to show associations of FCGR genotypes with outcome following HD-IL2 treatment
Title: FCGR Polymorphisms Influence Response to IL2 in Metastatic Renal Cell Carcinoma.
The nonclassical open reading frame in the FCGR2C gene (FCGR2C.nc-ORF) was strongly associated with a decreased alloimmunization risk (odds ratio [OR] 0.26, 95% confidence [CI] 0.11-0.64).
Title: Nonclassical FCGR2C haplotype is associated with protection from red blood cell alloimmunization in sickle cell disease.
Gene copy number variation (CNV) of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity, and our results provide evidence for a role of CNV in host responses to malaria.
Title: Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes.
FCGR2A and FCGR2C polymorphisms may also contribute to immunocomplexemia present in sarcoidosis.
Title: Polymorphism of FCGR2A, FCGR2C, and FCGR3B Genes in the Pathogenesis of Sarcoidosis.
The findings of this study highlight further ethnic variation at the FCGR gene locus, in particular for FCGR2C, a gene with increasingly recognized clinical significance.
Title: Variability at the FCGR locus: characterization in Black South Africans and evidence for ethnic variation in and out of Africa.
FCGR2C SNPs that associated with vaccine efficacy in RV144 also strongly associated with the expression of FCGR2A/C and one of them also associated with the expression of Fc receptor-like A (FCRLA), another Fc-gamma receptor (FcgammaR) gene
Title: FCGR2C Polymorphisms Associated with HIV-1 Vaccine Protection Are Linked to Altered Gene Expression of Fc-γ Receptors in Human B Cells.
These include an FCGR2A/2C chimeric gene that causes a decreased expression
Title: Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression.
Data show that gains or losses in copy numbers of Fc gamma receptors FCGR3A were less frequent than for FCGR3B and FCGR2C.
Title: Allelic and copy-number variations of FcγRs affect granulocyte function and susceptibility for autoimmune blistering diseases.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of FCGR2C in human monocyte-derived dendritic cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3418 (e-PCR)
- UniSTS:53553

GDB:190031 (e-PCR)
- UniSTS:155610

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables IgG binding	IBA Inferred from Biological aspect of Ancestor more info
enables IgG receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Fc-gamma receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in antibody-dependent cellular cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of tumor necrosis factor production	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: low affinity immunoglobulin gamma Fc region receptor II-c

Names: Fc fragment of IgG receptor IIc; Fc fragment of IgG, low affinity IIc, receptor for (CD32); Fc gamma receptor IIC; IgG Fc receptor II-c; fc-gamma-RIIc; immunoglobulin G Fc receptor II-c

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.

Genomic

NG_011982.1 RefSeqGene

Range

5001..24882

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_201563.5 → NP_963857.3 low affinity immunoglobulin gamma Fc region receptor II-c precursor

See identical proteins and their annotated locations for NP_963857.3

Status: REVIEWED

Description

Transcript Variant: This variant (1, coding) encodes the functional protein.

Source sequence(s)

AL451067, DA851200, U90938

UniProtKB/Swiss-Prot

O00523, O00524, O00525, P31995

Conserved Domains (3) summary

cd05752
Location:50 → 128

Ig1_FcgammaR_like; Frst immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs) and similar proteins

cd05753
Location:132 → 214

Ig2_FcgammaR_like; Second immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs) and similar proteins

smart00410
Location:138 → 214

IG_like; Immunoglobulin like

RNA

NR_047648.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (1, non-coding) represents the non-functional allele as found in the reference genome sequence.

Source sequence(s)

AL451067, BC137397

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

161581339..161601220

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

160925677..160945560

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001005410.2: Suppressed sequence

Description

NM_001005410.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001005411.2: Suppressed sequence

Description

NM_001005411.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001005412.1: Suppressed sequence

Description

NM_001005412.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.