Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: EBP (EBP cholestenol delta-isomerase) Homo sapiens
Symbol: EBP
Name: EBP cholestenol delta-isomerase
Description: The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; CDPX2; CHO2; cholestenol Delta-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); CPX; CPXD; D8-D7 sterol isomerase; delta(8)-Delta(7) sterol isomerase; EBP, cholestenol delta-isomerase; emopamil binding protein (sterol isomerase); emopamil-binding protein (sterol isomerase); MEND; sterol 8-isomerase
Mus musculus (house mouse) : Ebp (phenylalkylamine Ca2+ antagonist (emopamil) binding protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ebp (EBP, cholestenol delta-isomerase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ebp (EBP cholestenol delta-isomerase)
Pan paniscus (bonobo/pygmy chimpanzee) : EBP (EBP cholestenol delta-isomerase)
Canis lupus familiaris (dog) : EBP (EBP cholestenol delta-isomerase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ebp (EBP cholestenol delta-isomerase)
Sus scrofa (pig) : EBP (EBP cholestenol delta-isomerase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X48,521,776 - 48,528,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,379,306 - 48,387,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,265,201 - 48,272,048 (+)NCBINCBI36hg18NCBI36
Build 34X48,136,510 - 48,143,356NCBI
CeleraX53,278,627 - 53,285,567 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,043,290 - 46,050,391 (+)NCBIHuRef
CHM1_1X48,411,425 - 48,418,366 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on EBP
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1345811
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.