EBP (EBP cholestenol delta-isomerase)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
CDPX2,CHO2,CPX,CPXD,MEND

Other Information

Locus ID:

NCBI: 10682
MIM: 300205
HGNC: 3133
Ensembl: ENSG00000147155

Variants:

dbSNP: 10682
ClinVar: 10682
TCGA: ENSG00000147155
COSMIC: EBP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147155ENST00000414061C9J719
ENSG00000147155ENST00000446158C9JJ78
ENSG00000147155ENST00000495186Q15125
ENSG00000147155ENST00000495186A0A024QYX0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Cholesterol biosynthesis via desmosterolREACTOMER-HSA-6807047
Cholesterol biosynthesis via lathosterolREACTOMER-HSA-6807062

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
221218512012Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.10
179494532007Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.5
247005722014A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.5
241068712013Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.4
244590672014An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.3
173786902007A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.2
219310452011Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.2
311657282019Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.2
185737092008Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.1

Citation

Dessen P

EBP (EBP cholestenol delta-isomerase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62709/ebp