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Gene: EBP (EBP cholestenol delta-isomerase) Homo sapiens
Symbol: EBP
Name: EBP cholestenol delta-isomerase
Description: Exhibits steroid delta-isomerase activity. Involved in cholesterol biosynthetic process. Localizes to the endoplasmic reticulum and nuclear envelope. Implicated in X-linked chondrodysplasia punctata 2 and chondrodysplasia punctata.
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)
Chlorocebus sabaeus (African green monkey) : EBP (EBP cholestenol delta-isomerase)
Heterocephalus glaber (naked mole-rat) : Ebp (EBP cholestenol delta-isomerase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 EnsemblX48,521,799 - 48,528,716 (+)Ensembl
GRCh38X48,521,808 - 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


RNA-SEQ Expression


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

RGD Object Information
RGD ID: 1345811
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-02-04
Status: ACTIVE


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