BPIFB3

protein-coding

BPI fold containing family B member 3, the group of BPI fold containing

Gene summary

Predicted to enable lipid binding activity. Predicted to be involved in innate immune response. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C20orf185

MANE transcript

NM_001376932.3

Inheritance

—

ClinVar variants

U:72B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr20:33,053,903-33,073,847

External References & Databases

Ensembl (ENSG00000186190)

Transcript & Mutation Effects

hg38 • Region Span ~19.9 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 BPIFB3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 75

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001376932.3. 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				2 clinvar		2
missense			71 clinvar	3 clinvar		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	72	5	0	77

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001376932.3	RefSeq	NP_001363861.2	15	MANE Select
ENST00000375494.4	Ensembl	ENSP00000364643.4	15	MANE Select
NM_182658.5	RefSeq	NP_872599.2	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

innate immune response

Molecular Function

lipid binding

Cellular Component

extracellular region
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375494
Coding exons: 15
Length: 18205
Individuals with no LoFs: 123473
Homozygous LoFs: 19
Heterozygous LoFs: 2256
Defined: 125748
p: 0.00909

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.302	290	276	1.05	0.0000158	2965
Missense (PolyPhen)		130	109.8	1.184		1265
Synonymous	0.0272	132	132	0.997	0.00000823	1084
Loss of Function	0.597	21	24.2	0.869	0.00000122	266

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0033	0.0032	notable
Latino/Admixed American	0.0043	0.0043	notable
Ashkenazi Jewish	0.0052	0.0052	notable
East Asian	0.00054	0.00054	rare
Finnish	0.016	0.016	notable
European (Non-Finnish)	0.013	0.013	notable
South Asian	0.0059	0.0059	notable
Other	0.0075	0.0075	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0879

Intolerance Scores

RVIS EVS: 1.14
RVIS percentile EVS: 92.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High