FCRLB

protein-coding

Fc receptor like B, the group of Fc receptors|Immunoglobulin like domain containing

Gene summary

FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]

Previous symbols:

FCRLM2

MANE transcript

NM_001002901.4

Inheritance

—

ClinVar variants

U:67B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.97

Max pathogenic AF

—

Genomic locus

chr1:161,721,544-161,728,143

External References & Databases

Ensembl (ENSG00000162746)

Transcript & Mutation Effects

hg38 • Region Span ~6.6 kb

Loading mutation effect viewer...

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 FCRLB variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001002901.4. 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			1
missense			66 clinvar	3 clinvar		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	3	0	70

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001002901.4	RefSeq	NP_001002901.1	6	MANE Select
ENST00000367948.7	Ensembl	ENSP00000356925.2	6	MANE Select
NM_001288829.1	RefSeq	NP_001275758.1	6	Standard
NM_001288830.1	RefSeq	NP_001275759.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of immune response

Cellular Component

cytoplasm
endoplasmic reticulum

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367948
Coding exons: 6
Length: 6581
Individuals with no LoFs: 124609
Homozygous LoFs: 27
Heterozygous LoFs: 1112
Defined: 125748
p: 0.00454

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.520	217	240	0.905	0.0000113	2648
Missense (PolyPhen)		76	75.864	1.0018		883
Synonymous	-0.0969	108	107	1.01	0.00000502	944
Loss of Function	0.0919	15	15.4	0.975	7.27e-7	167

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00038	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000088	0.000088	rare
South Asian	0.037	0.037	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.114

Intolerance Scores

LoFtool: 0.431
RVIS EVS: 0.75
RVIS percentile EVS: 86.65

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.200

Gene Damage Prediction

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