BPIFB2

BPI fold containing family B member 2, the group of BPI fold containing

Basic information

Region (hg38): 20:33007704-33023703

Previous symbols: [ "C20orf184", "BPIL1" ]

Links

ENSG00000078898 ∙ NCBI:80341 ∙ OMIM:614108 ∙ HGNC:16177 ∙ Uniprot:Q8N4F0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BPIFB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BPIFB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			35	5		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	5	0

Variants in BPIFB2

This is a list of pathogenic ClinVar variants found in the BPIFB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-33008624-T-A			Likely benign (Jan 01, 2023)
20-33008629-G-A		not specified	Likely benign (Feb 06, 2024)
20-33008636-C-T		not specified	Uncertain significance (Dec 16, 2023)
20-33008657-G-A		not specified	Uncertain significance (Dec 12, 2022)
20-33011053-C-T		not specified	Uncertain significance (Feb 08, 2025)
20-33011054-G-A		not specified	Uncertain significance (Oct 20, 2021)
20-33011056-G-T		not specified	Uncertain significance (Apr 13, 2022)
20-33011091-G-T		not specified	Uncertain significance (Oct 25, 2024)
20-33011102-C-A		not specified	Uncertain significance (May 08, 2024)
20-33012831-C-T		not specified	Uncertain significance (Feb 26, 2024)
20-33013811-G-A		not specified	Uncertain significance (Jan 27, 2025)
20-33013838-C-T		not specified	Uncertain significance (Nov 07, 2022)
20-33013862-C-T		not specified	Uncertain significance (May 24, 2023)
20-33013863-G-A		not specified	Uncertain significance (Oct 11, 2024)
20-33013899-G-A		not specified	Uncertain significance (Feb 13, 2024)
20-33013931-G-A		not specified	Uncertain significance (Jan 09, 2024)
20-33015490-T-G		not specified	Likely benign (Jul 17, 2023)
20-33018276-C-A		not specified	Uncertain significance (May 24, 2023)
20-33018324-A-G		not specified	Uncertain significance (Aug 22, 2023)
20-33018640-G-A		not specified	Uncertain significance (Nov 27, 2024)
20-33018641-T-C		not specified	Uncertain significance (Mar 06, 2025)
20-33018677-C-T		not specified	Uncertain significance (Dec 19, 2022)
20-33018718-G-A		not specified	Likely benign (Feb 03, 2022)
20-33018721-G-C		not specified	Uncertain significance (Oct 10, 2023)
20-33018722-G-T		not specified	Uncertain significance (Oct 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BPIFB2	protein_coding	protein_coding	ENST00000170150	15	16110

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.75e-12	0.103	125706	0	41	125747	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.325	257	272	0.945	0.0000161	2903
Missense in Polyphen		76	80.715	0.94159		972
Synonymous	-0.0951	123	122	1.01	0.00000751	1022
Loss of Function	0.534	19	21.7	0.876	9.98e-7	240

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000501	0.000501
Ashkenazi Jewish	0.000206	0.000198
East Asian	0.000163	0.000163
Finnish	0.0000476	0.0000462
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.000163	0.000163
South Asian	0.0000980	0.0000980
Other	0.000179	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Antimicrobial peptides;Innate Immune System;Immune System;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.0953

Intolerance Scores

• rvis_EVS: -0.06
• rvis_percentile_EVS: 48.84

Haploinsufficiency Scores

• pHI: 0.154
• hipred: N
• hipred_score: 0.146
• ghis: 0.399

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bpifb2

Gene ontology

• Biological process: antimicrobial humoral response;post-translational protein modification;cellular protein metabolic process
• Cellular component: extracellular region;endoplasmic reticulum lumen;extracellular exosome
• Molecular function: lipid binding