BPIFB4 (BPI fold containing family B member 4)

2014-11-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
C20orf186,LPLUNC4,RY2G5,dJ726C3.5
FUSION GENES

Other Information

Locus ID:

NCBI: 149954
MIM: 615718
HGNC: 16179
Ensembl: ENSG00000186191

Variants:

dbSNP: 149954
ClinVar: 149954
TCGA: ENSG00000186191
COSMIC: BPIFB4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186191ENST00000375483P59827
ENSG00000186191ENST00000445356F8WEG9

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Antimicrobial peptidesREACTOMER-HSA-6803157

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
260340432015Genetic Analysis Reveals a Longevity-Associated Protein Modulating Endothelial Function and Angiogenesis.27
281216212017The expression of the BPIFB4 and CXCR4 associates with sustained health in long-living individuals from Cilento-Italy.9
284192162017LAV-BPIFB4 isoform modulates eNOS signalling through Ca2+/PKC-alpha-dependent mechanism.7
288522182017A rare genetic variant of BPIFB4 predisposes to high blood pressure via impairment of nitric oxide signaling.6
303778852019Bactericidal/Permeability-Increasing Fold-Containing Family B Member 4 May Be Associated with NSAID-Induced Enteropathy.0

Citation

Dessen P

BPIFB4 (BPI fold containing family B member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60795/bpifb4