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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 2, X-Linked Dominant and Mend Syndrome. Among its related pathways are cholesterol biosynthesis I and Metabolism. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for EBP Gene

Promoters and enhancers for EBP Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI048520 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.5 +0.6 613 3 PKNOX1 ATF1 ARID4B DMAP1 YY1 GLIS2 GATA2 E2F8 FOS ATF7 EBP FTSJ1 ENSG00000204620 RBM3 ENSG00000270012 ZNF81 CCDC22 ARAF ENSG00000276823 PORCN
GH0XI048524 Promoter 0.5 EPDnew 550.8 +2.6 2554 0.1 ENSG00000276823 EBP
GH0XI048538 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.4 +18.8 18751 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B TBC1D25 ENSG00000204620 RBM3 PORCN LOC101927635 FTSJ1 RN7SL262P ZNF630 ENSG00000228343 ZNF182
GH0XI048573 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.2 +53.8 53828 3.4 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ENSG00000204620 RBM3 ZNF182 ENSG00000228343 FTSJ1 ZNF81 PRICKLE3 PQBP1 ENSG00000270012 HDAC6
GH0XI048485 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.6 -32.8 -32766 6 HDAC1 PKNOX1 ZNF121 RCOR1 ZNF548 FOS ATF7 CREM USF2 ELF1 FTSJ1 ENSG00000204620 PORCN ZNF81 RBM3 EBP ENSG00000270012 ENSG00000228343 SLC38A5 ZNF630
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EBP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EBP gene promoter:

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 Thr3
  • 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

Animal Model Products

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,IEA 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 408
nolvadex Approved October 1998 Pharma 0
calcium Approved Nutra 0

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

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 33 34
  • 86.67 (n)
(Rattus norvegicus)
Mammalia Ebp 33
  • 81.89 (n)
(Mus musculus)
Mammalia Ebp 33 16 34
  • 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 33 34
  • 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 Variation AA Info Type
rs104894792 pathogenic, Chondrodysplasia punctata 2 X-linked dominant 48,527,202(+) G/A coding_sequence_variant, stop_gained
rs104894793 pathogenic, Chondrodysplasia punctata 2 X-linked dominant 48,528,287(+) C/T coding_sequence_variant, stop_gained
rs104894794 pathogenic, Chondrodysplasia punctata 2 X-linked dominant 48,528,351(+) G/A coding_sequence_variant, stop_gained
rs104894795 pathogenic, MEND syndrome, MEND syndrome (MEND) [MIM:300960] 48,523,824(+) T/C coding_sequence_variant, missense_variant
rs104894798 pathogenic, Chondrodysplasia punctata 2 X-linked dominant 48,523,858(+) G/A coding_sequence_variant, stop_gained

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

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)

Additional Variant Information for EBP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EBP Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for EBP

Genetic Association Database
Human Genome Epidemiology 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 58
  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 58
  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 58
  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 58
  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 58

Products for EBP Gene

Sources for EBP Gene

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