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.

• not_specified (65 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000025227.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			58	7		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	8	0

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