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Aliases for EBP Gene

Aliases for EBP Gene

  • Emopamil Binding Protein (Sterol Isomerase) 2 3 5
  • Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome) 2 3
  • 3-Beta-Hydroxysteroid-Delta-8,Delta-7-Isomerase 2 3
  • Delta(8)-Delta(7) Sterol Isomerase 3 4
  • Cholestenol Delta-Isomerase 3 4
  • Emopamil-Binding Protein 3 4
  • D8-D7 Sterol Isomerase 3 4
  • Sterol 8-Isomerase 2 3
  • 3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase 3
  • Emopamil-Binding Protein (Sterol Isomerase) 2
  • EC 4
  • CDPX2 3
  • CHO2 3
  • CPXD 3
  • MEND 3
  • CPX 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 Mend Syndrome. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis. GO annotations related to this gene include transmembrane signaling receptor activity and steroid delta-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.

Additional gene information for EBP Gene

No data available for CIViC summary , 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

Enhancers for EBP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH048485 1.4 FANTOM5 Ensembl ENCODE 12.6 -32.8 -32766 6 HDAC1 PKNOX1 KLF1 ETV1 ZNF121 FOXK2 POLR2A RCOR1 ZSCAN29 FOS FTSJ1 ENSG00000204620 PORCN ZNF81 RBM3 EBP ENSG00000270012 ENSG00000228343 SLC38A5 ZNF630
GH0XH048491 1.2 FANTOM5 Ensembl ENCODE 13.4 -28.4 -28438 1.7 SMARCE1 ZSCAN4 JUN ELF1 DPF2 FOSL1 CTBP1 JUND SMARCA4 POLR2A SLC38A5 EBP RBM3 WAS PORCN OTUD5 GC0XP048480 LOC101927635
GH0XH048569 1.2 FANTOM5 Ensembl ENCODE 9.3 +49.2 49240 1.2 ZNF687 JUN JUNB FEZF1 BATF BCL11A EED ETV6 RUNX3 CREM EBP PCSK1N RBM3 GC0XM048562
GH0XH048520 1 ENCODE 10.5 +0.6 614 3 PKNOX1 ATF1 ARID4B DMAP1 YY1 GLIS2 GATA2 FOS ATF7 RUNX3 FTSJ1 RBM3 EBP ENSG00000204620 ENSG00000276823
GH0XH048538 1.1 ENCODE 9.4 +18.8 18751 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS TBC1D25 ENSG00000204620 RBM3 PORCN LOC101927635 FTSJ1 RN7SL262P ZNF630 ENSG00000228343 ZNF182
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EBP on UCSC Golden Path with GeneCards custom track

Promoters for EBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246481 942 1401 PKNOX1 ATF1 YY1 GLIS2 GATA2 FOS ATF7 SP3 YY2 GTF2B

Genomic Locations for EBP Gene

Genomic Locations for EBP Gene
7,559 bases
Plus strand

Genomic View for EBP Gene

Genes around EBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for EBP Gene

  • Glycosylation at posLast=22 and posLast=33
  • Modification sites at PhosphoSitePlus

Other Protein References for EBP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EBP Gene

Domains & Families for EBP Gene

Gene Families for EBP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

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

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 IDA,EXP 9894009
GO:0004888 transmembrane signaling receptor activity TAS 7706302
GO:0005515 protein binding IPI 25910212
GO:0015238 drug transmembrane transporter activity TAS 7706302
genes like me logo Genes that share ontologies with EBP: view
genes like me logo Genes that share phenotypes with EBP: view

Human Phenotype Ontology for EBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for EBP Gene

Clone Products

No data available for Phenotypes From GWAS Catalog , 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. Nucleus envelope. Cytoplasmic vesicle. Note=During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles. {ECO:0000269 PubMed:10406945}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EBP gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 10406945
GO:0005783 endoplasmic reticulum IDA 10406945
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7706302
genes like me logo Genes that share ontologies with EBP: view

Pathways & Interactions 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.

Gene Ontology (GO) - Biological Process for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10391219
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IDA 9894009
GO:0006855 drug transmembrane transport IEA --
genes like me logo Genes that share ontologies with EBP: view

No data available for SIGNOR curated interactions for EBP Gene

Drugs & Compounds for EBP Gene

(6) Drugs for EBP Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tamoxifen Approved Pharma Antagonist, Target TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 399
nolvadex Approved October 1998 Pharma 0
calcium Nutra 0

(12) Additional Compounds for EBP Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3beta,4alpha,5alpha)- 4-methyl-Ergosta-7,24(28)-dien-3-ol
  • 24-Methylene lophenol
  • 24-Methylene-Lophenol
  • 24-Methylenelophenol
  • 4-alpha-Methyl-5-alpha-ergosta-7,24-dien-3-beta-ol
  • 4alpha-Methylfecosterol
  • (3beta,5alpha)Cholestenol
  • 3beta-hydroxy-8(9)-cholestene
  • 3beta-hydroxycholest-8(9)-ene
  • 5-alpha-Cholest-8-en-3-beta-ol
  • 5alpha-Cholest-8(9)-en-3beta-ol
  • 5 alpha-Cholesta-7,24-dien-3beta-ol
  • 5alpha-Cholesta-7,24-dien-3beta-ol
  • (3beta)-Cholest-7-en-3-ol
  • (3beta,5alpha)-Cholest-7-en-3-ol
  • (3beta,alpha)-Cholest-7-en-3-ol
  • (7)-Cholestenol
  • 3b-Hydroxy-5-cholestene
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x7.1) and Adrenal Gland (x4.9).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EBP Gene

Protein tissue co-expression partners for EBP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EBP Gene:


SOURCE GeneReport for Unigene cluster for EBP Gene:


Evidence on tissue expression from TISSUES for EBP Gene

  • Liver(4.6)
  • Skin(2.4)
  • Nervous system(2.2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • trachea
  • kidney
  • pelvis
  • placenta
  • testicle
  • ureter
  • uterus
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with EBP: view

No data available for 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
(Canis familiaris)
Mammalia EBP 33
  • 88.74 (n)
-- 34
  • 86 (a)
-- 34
  • 84 (a)
(Bos Taurus)
Mammalia EBP 34 33
  • 86.67 (n)
(Rattus norvegicus)
Mammalia Ebp 33
  • 81.89 (n)
(Mus musculus)
Mammalia Ebp 16 34 33
  • 80.67 (n)
(Monodelphis domestica)
Mammalia EBP 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia EBP 34
  • 51 (a)
(Anolis carolinensis)
Reptilia EBP 34
  • 63 (a)
African clawed frog
(Xenopus laevis)
Amphibia ebp-prov 33
(Danio rerio)
Actinopterygii ebp 34 33
  • 60.98 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HYD1 33
  • 45.16 (n)
(Oryza sativa)
Liliopsida Os01g0103600 33
  • 48.81 (n)
Species where no ortholog for EBP was found in the sources mined by GeneCards:
  • 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
rs104894795 Pathogenic, MEND syndrome (MEND) [MIM:300960] 48,523,824(+) AAGAC(C/T)GGACA reference, missense
rs28935174 Pathogenic, Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] 48,527,256(+) CCTCC(A/G)CTTCA reference, missense
rs28936073 Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
rs587783599 Pathogenic, MEND syndrome (MEND) [MIM:300960] 48,523,912(+) ACATG(G/T)CTGTT reference, missense
rs797045153 Pathogenic, MEND syndrome (MEND) [MIM:300960] 48,523,995(+) GTTCA(A/T)TCACC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv528292 CNV gain 19592680
esv32909 CNV gain+loss 17666407

Variation tolerance for EBP Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EBP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for EBP Gene

MalaCards: The human disease database

(11) MalaCards diseases for EBP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata, x-linked dominant
  • chondrodystrophia calcificans congenita
mend syndrome
  • male ebp disorder with neurological defects
factor xiii deficiency
  • mend syndrome
digital anomalies-intellectual disability-short stature syndrome
waardenburg's syndrome
  • waardenburg syndrome, type 4a
- elite association - COSMIC cancer census association via MalaCards
Search EBP in MalaCards View complete list of genes associated with diseases


  • 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, ECO:0000269 PubMed:18176751, ECO:0000269 PubMed:25814754}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • MEND syndrome (MEND) [MIM:300960]: An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. {ECO:0000269 PubMed:12503101, ECO:0000269 PubMed:20949533, ECO:0000269 PubMed:24459067, ECO:0000269 PubMed:24700572}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EBP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EBP: view

No data available for Genatlas for EBP Gene

Publications for EBP Gene

  1. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PMID: 12760743) Moebius FF … Glossmann H (The Biochemical journal 2003) 3 4 22 60
  2. Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. (PMID: 11493318) Becker K … Kárpáti S (Experimental dermatology 2001) 3 4 22 60
  3. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. (PMID: 10942423) Has C … Traupe H (Human molecular genetics 2000) 3 4 22 60
  4. 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 FF … Glossmann H (Biochemistry 1999) 3 4 22 60
  5. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. (PMID: 10391218) Derry JM … Herman GE (Nature genetics 1999) 3 4 22 60

Products for EBP Gene

Sources for EBP Gene

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