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Aliases for EBP Gene

Aliases for EBP Gene

  • Emopamil Binding Protein (Sterol Isomerase) 2 3
  • 3-Beta-Hydroxysteroid-Delta-8,Delta-7-Isomerase 2 3
  • Emopamil-Binding Protein (Sterol Isomerase) 2 3
  • Delta(8)-Delta(7) Sterol Isomerase 3 4
  • Cholestenol Delta-Isomerase 3 4
  • D8-D7 Sterol Isomerase 3 4
  • Sterol 8-Isomerase 2 3
  • CDPX2 3 6
  • CPXD 3 6
  • CPX 3 6
  • Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome) 3
  • 3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase 3
  • X-Linked Dominant (Happle Syndrome) 2
  • Chondrodysplasia Punctata-2 2
  • Emopamil-Binding Protein 4
  • EC 4
  • CHO2 3

External Ids for EBP Gene

Previous HGNC Symbols for EBP Gene

  • CDPX2

Previous GeneCards Identifiers for EBP Gene

  • GC0XP047183
  • GC0XP046640
  • GC0XP047427
  • GC0XP047428
  • GC0XP048136
  • GC0XP048264
  • GC0XP048380
  • GC0XP046043

Summaries for EBP Gene

Entrez Gene Summary for EBP Gene

  • 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]

GeneCards Summary for EBP Gene

EBP (Emopamil Binding Protein (Sterol Isomerase)) is a Protein Coding gene. Diseases associated with EBP include chondrodysplasia punctata, x-linked dominant and chondrodysplasia punctata 2, x-linked. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transmembrane signaling receptor activity and C-8 sterol isomerase activity. An important paralog of this gene is EBPL.

UniProtKB/Swiss-Prot for EBP Gene

  • Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EBP Gene

Genomics for EBP Gene

Regulatory Elements for EBP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EBP Gene

48,521,158 bp from pter
48,528,716 bp from pter
7,559 bases
Plus strand

Genomic View for EBP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EBP Gene

Proteins for EBP Gene

  • Protein details for EBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q6FGL3
    • Q6IBI9

    Protein attributes for EBP Gene

    230 amino acids
    Molecular mass:
    26353 Da
    Quaternary structure:
    No Data Available
    • Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug

neXtProt entry for EBP Gene

Proteomics data for EBP Gene at MOPED

Post-translational modifications for EBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EBP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EBP Gene

Domains for EBP Gene

Protein Domains for EBP Gene


Suggested Antigen Peptide Sequences for EBP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the EBP family.
  • Belongs to the EBP family.
genes like me logo Genes that share domains with EBP: view

No data available for Gene Families for EBP Gene

Function for EBP Gene

Molecular function for EBP Gene

GENATLAS Biochemistry:
3 hydroxysteroid-delta 8-delta 7-isomerase beta ,cholesterol biosynthesis pathway, homodimerizing in the endoplasmic reticulum,converting cholesterol 8(9)-en 3 beta to bathosterol (cholest-7en-3 beta-ol),also binding emopamil,lamoxifen
UniProtKB/Swiss-Prot CatalyticActivity:
5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers

Enzyme Numbers (IUBMB) for EBP Gene

Gene Ontology (GO) - Molecular Function for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000247 C-8 sterol isomerase activity IEA --
GO:0004769 steroid delta-isomerase activity TAS 10391219
GO:0004888 transmembrane signaling receptor activity TAS 7706302
GO:0015238 drug transmembrane transporter activity TAS 7706302
GO:0047750 cholestenol delta-isomerase activity IEA --
genes like me logo Genes that share ontologies with EBP: view
genes like me logo Genes that share phenotypes with EBP: view

Animal Model Products

miRNA for EBP Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EBP

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for EBP Gene

Localization for EBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for EBP Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for EBP Gene COMPARTMENTS Subcellular localization image for EBP gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7706302
GO:0016021 integral component of membrane --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with EBP: view

Pathways for EBP Gene

genes like me logo Genes that share pathways with EBP: view

UniProtKB/Swiss-Prot Q15125-EBP_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis

Interacting Proteins for EBP Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000417052 Q15125-EBP_HUMAN for EBP Gene via STRING I2D

Gene Ontology (GO) - Biological Process for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10391219
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006855 drug transmembrane transport TAS 7706302
GO:0007165 signal transduction TAS 7706302
GO:0008203 cholesterol metabolic process TAS 10391219
genes like me logo Genes that share ontologies with EBP: view

Drugs for EBP Gene

(1) Drugbank Compounds for EBP Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine
10540-29-1 2733526 Target approved

(7) HMDB Compounds for EBP Gene

Compound Synonyms Cas Number PubMed IDs
  • (3beta,4alpha,5alpha)- 4-methyl-Ergosta-7,24(28)-dien-3-ol
  • 4alpha-Methylfecosterol
  • (3beta,5alpha)Cholestenol
  • 5 alpha-Cholesta-7,24-dien-3beta-ol
  • Ca

(10) Novoseek inferred chemical compound relationships for EBP Gene

Compound -log(P) Hits PubMed IDs
emopamil 99.1 25
sr 31747a 91.3 3
kalinin 78.2 2
u18666a 76.8 1
sterol 72.4 11
genes like me logo Genes that share compounds with EBP: view

Transcripts for EBP Gene

Unigene Clusters for EBP Gene

Emopamil binding protein (sterol isomerase):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EBP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EBP Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: - -

Relevant External Links for EBP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EBP Gene

mRNA expression in normal human tissues for EBP Gene

mRNA differential expression in normal tissues according to GTEx for EBP Gene

This gene is overexpressed in Liver (7.1) and Adrenal Gland (4.9).

Protein differential expression in normal tissues for EBP Gene

This gene is overexpressed in Gallbladder (9.2), Adrenal (8.1), Fetal testis (7.5), Nasal epithelium (6.9), and Liver (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for EBP Gene

SOURCE GeneReport for Unigene cluster for EBP Gene Hs.30619

genes like me logo Genes that share expressions with EBP: view

Expression partners for EBP Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for EBP Gene

Orthologs for EBP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EBP Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EBP 35
  • 86.67 (n)
  • 85.22 (a)
EBP 36
  • 85 (a)
(Canis familiaris)
Mammalia EBP 35
  • 88.74 (n)
  • 91.23 (a)
-- 36
  • 84 (a)
-- 36
  • 86 (a)
(Mus musculus)
Mammalia Ebp 35
  • 80.67 (n)
  • 79 (a)
Ebp 16
Ebp 36
  • 78 (a)
(Rattus norvegicus)
Mammalia Ebp 35
  • 81.89 (n)
  • 82.19 (a)
(Monodelphis domestica)
Mammalia EBP 36
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia EBP 36
  • 51 (a)
(Anolis carolinensis)
Reptilia EBP 36
  • 63 (a)
African clawed frog
(Xenopus laevis)
Amphibia ebp-prov 35
(Danio rerio)
Actinopterygii ebp 35
  • 60.98 (n)
  • 61.14 (a)
ebp 36
  • 57 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HYD1 35
  • 45.16 (n)
  • 33 (a)
(Oryza sativa)
Liliopsida Os01g0103600 35
  • 48.81 (n)
  • 41.84 (a)
Species with no ortholog for EBP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EBP Gene

Gene Tree for EBP (if available)
Gene Tree for EBP (if available)

Paralogs for EBP Gene

Paralogs for EBP Gene

(1) SIMAP similar genes for EBP Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EBP: view

Variants for EBP Gene

Sequence variations from dbSNP and Humsavar for EBP Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs587783602 Likely pathogenic 48,523,985(+) CAGTG(C/T)GTGGG missense, reference
rs587783601 Likely pathogenic 48,523,975(+) TGCTG(G/T)TTTGC reference, missense
rs587783600 Pathogenic 48,523,953(+) GACTT(A/G)GCGGC stop-gained, reference
rs587783599 Pathogenic 48,523,912(+) ACATG(G/T)CTGTT reference, missense
rs567877641 -- 48,522,963(+) CCACC(A/G)CGCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EBP Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680

Relevant External Links for EBP Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EBP Gene

Disorders for EBP Gene

(1) OMIM Diseases for EBP Gene (300205)


  • Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. {ECO:0000269 PubMed:10391218, ECO:0000269 PubMed:10391219, ECO:0000269 PubMed:10942423, ECO:0000269 PubMed:11493318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for EBP Gene

(3) Novoseek inferred disease relationships for EBP Gene

Disease -log(P) Hits PubMed IDs
cdpx2 98.7 32
chondrodysplasia punctata 96.4 6
child syndrome 80.7 2

Relevant External Links for EBP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with EBP: view

No data available for Genatlas for EBP Gene

Publications for EBP Gene

  1. Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization. (PMID: 9894009) Moebius F.F. … Glossmann H. (Biochemistry 1999) 3 4 23
  2. Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. (PMID: 10391218) Derry J.M.J. … Herman G.E. (Nat. Genet. 1999) 3 4 23
  3. Identification of a novel mutation in 3beta-hydroxysteroid-Delta8- Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. (PMID: 11493318) Becker K. … Karpati S. (Exp. Dermatol. 2001) 3 4 23
  4. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PMID: 12760743) Moebius F.F. … Glossmann H. (Biochem. J. 2003) 3 4 23
  5. Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. (PMID: 7706302) Hanner M. … Glossmann H. (J. Biol. Chem. 1995) 2 3 4

Products for EBP Gene

Sources for EBP Gene

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