BPIFC

protein-coding

BPI fold containing family C, the group of BPI fold containing

Gene summary

Predicted to enable lipopolysaccharide binding activity and phospholipid binding activity. Predicted to be involved in defense response to Gram-negative bacterium and innate immune response. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

BPIL2

MANE transcript

NM_174932.3

Inheritance

ClinVar variants

U:65B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr22:32,413,845-32,464,484

External References & Databases

Ensembl (ENSG00000184459)

Transcript & Mutation Effects

hg38 • Region Span ~50.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

trichilemmal cystLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0012328

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BPIFC variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 67

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_174932.3. 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		1
missense			64 clinvar	2 clinvar		66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	65	3	0	68

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_174932.3	RefSeq	NP_777592.1	15	MANE Select
ENST00000300399.9	Ensembl	ENSP00000300399.3	15	MANE Select
ENST00000397450.2	Ensembl	ENSP00000380592.1	2	Standard
ENST00000397450.3	Ensembl	ENSP00000380592.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

lipopolysaccharide binding
phospholipid binding

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397452
Coding exons: 15
Length: 50638
Individuals with no LoFs: 125410
Homozygous LoFs: 0
Heterozygous LoFs: 337
Defined: 125747
p: 0.00134

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.524	247	271	0.910	0.0000139	3313
Missense (PolyPhen)		85	98.086	0.86659		1228
Synonymous	0.522	100	107	0.936	0.00000621	982
Loss of Function	1.99	15	25.9	0.578	0.00000128	310

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.00047	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.012	0.012	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00019	0.00018	rare
South Asian	0.0017	0.0017	notable
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0988

Intolerance Scores

RVIS EVS: 0.89
RVIS percentile EVS: 89.24

Essentials

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

Gene Damage Prediction

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