FCGRT

protein-coding

Fc gamma receptor and transporter, the group of C1-set domain containing

Gene summary

This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

MANE transcript

NM_001136019.3

Inheritance

—

ClinVar variants

U:53B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr19:49,506,816-49,526,428

External References & Databases

Ensembl (ENSG00000104870)

Transcript & Mutation Effects

hg38 • Region Span ~19.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FCGRT variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001136019.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		2 clinvar	3
missense			52 clinvar	1 clinvar	1 clinvar	54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	1	3	57

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 138 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001136019.3	RefSeq	NP_001129491.1	6	MANE Select
ENST00000221466.10	Ensembl	ENSP00000221466.4	6	MANE Select
NM_001411064.1	RefSeq	NP_001397993.1	5	Standard
NM_004107.5	RefSeq	NP_004098.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor
immune response

Molecular Function

IgG binding
beta-2-microglobulin binding
peptide antigen binding

Cellular Component

extracellular space
plasma membrane
external side of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000221466
Coding exons: 6
Length: 19518
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125748
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.843	176	210	0.836	0.0000131	2305
Missense (PolyPhen)		60	87.73	0.68391		937
Synonymous	-0.237	105	102	1.03	0.00000746	786
Loss of Function	2.43	5	15.2	0.329	7.38e-7	162

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00016	0.00016	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds to the Fc region of monomeric immunoglobulins gamma (PubMed:7964511, PubMed:10933786). Mediates the selective uptake of IgG from milk and helps newborn animals to acquire passive immunity. IgG in the milk is bound at the apical surface of the intestinal epithelium. The resultant FcRn-IgG complexes are transcytosed across the intestinal epithelium and IgG is released from FcRn into blood or tissue fluids (By similarity). Possible role in transfer of immunoglobulin G from mother to fetus (PubMed:7964511). {ECO:0000250|UniProtKB:P13599, ECO:0000269|PubMed:10933786, ECO:0000269|PubMed:7964511}.;

Recessive Scores

pRec: 0.415

Intolerance Scores

LoFtool: 0.0854
RVIS EVS: -0.14
RVIS percentile EVS: 43.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.876

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium