BPIFC (BPI fold containing family C)

2014-11-01  

Identity

HGNC
BPIFC
LOCATION
22q12.3
LOCUSID
254240
ALIAS
BPIL2

Other Information

Locus ID:

NCBI: 254240
MIM: 614109
HGNC: 16503
Ensembl: ENSG00000184459

Variants:

dbSNP: 254240
ClinVar: 254240
TCGA: ENSG00000184459
COSMIC: BPIFC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184459ENST00000300399Q8NFQ6
ENSG00000184459ENST00000397450Q5TI88
ENSG00000184459ENST00000397452Q8NFQ6
ENSG00000184459ENST00000534972Q8NFQ6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
384740632024Transcriptomic Analyses and Experimental Validation Identified Immune-Related lncRNA-mRNA Pair MIR210HG-BPIFC Regulating the Progression of Hypertrophic Cardiomyopathy.0
384740632024Transcriptomic Analyses and Experimental Validation Identified Immune-Related lncRNA-mRNA Pair MIR210HG-BPIFC Regulating the Progression of Hypertrophic Cardiomyopathy.0
310332522019Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.1
310332522019Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.1
121855322002Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP).17
121855322002Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP).17

Citation

Dessen P

BPIFC (BPI fold containing family C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60797/gene-fusions-explorer/haematological-explorer/js/web-card-gene.js