Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EBP Gene

Aliases for EBP Gene

  • Emopamil Binding Protein (Sterol Isomerase) 2 3 5
  • 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
  • Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome) 3
  • Emopamil-Binding Protein (Sterol Isomerase) 2
  • X-Linked Dominant (Happle Syndrome) 2
  • Chondrodysplasia Punctata-2 2
  • EC 5.3.3.5 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 Mend Syndrome and Chondrodysplasia Punctata, X-Linked Dominant. Among its related pathways are cholesterol biosynthesis II (via 24,25-dihydrolanosterol) and Metabolism. 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.

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

Enhancers for EBP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around EBP on UCSC Golden Path with GeneCards custom track

Genomic Location for EBP Gene

Chromosome:
X
Start:
48,521,158 bp from pter
End:
48,528,716 bp from pter
Size:
7,559 bases
Orientation:
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:
    Q15125-EBP_HUMAN
    Recommended name:
    3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
    Protein Accession:
    Q15125
    Secondary Accessions:
    • Q6FGL3
    • Q6IBI9

    Protein attributes for EBP Gene

    Size:
    230 amino acids
    Molecular mass:
    26353 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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

  • Glycosylation at Thr 2 and Thr 3
  • 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

Protein Domains for EBP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EBP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15125

UniProtKB/Swiss-Prot:

EBP_HUMAN :
  • Contains 1 EXPERA domain.
  • Belongs to the EBP family.
Domain:
  • Contains 1 EXPERA domain.
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 --
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

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

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

Gene Ontology (GO) - Cellular Components for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
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.

Interacting Proteins for EBP Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000417052%0d%0a9606.ENSP00000242827%0d%0a
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:0016125 sterol metabolic process IEA --
GO:0016126 sterol biosynthetic process IEA --
GO:0033489 cholesterol biosynthetic process via desmosterol TAS --
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 ER antagonist, Anti-Estrogens 364
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
24-Methylenelophenol
  • (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
1176-52-9
4a-Methylfecosterol
  • 4alpha-Methylfecosterol
5a-Cholest-8-en-3b-ol
  • (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
566-97-2
5a-Cholesta-7,24-dien-3b-ol
  • 5 alpha-Cholesta-7,24-dien-3beta-ol
  • 5alpha-Cholesta-7,24-dien-3beta-ol
651-54-7
lathosterol
  • (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
80-99-9
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:

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: - -
SP4:

Relevant External Links for EBP Gene

GeneLoc Exon Structure for
EBP
ECgene alternative splicing isoforms for
EBP

Expression for EBP Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for EBP Gene



SOURCE GeneReport for Unigene cluster for EBP Gene Hs.30619

genes like me logo Genes that share expression patterns with EBP: view

Protein tissue co-expression partners for EBP Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia EBP 35
  • 86.67 (n)
  • 85.22 (a)
EBP 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EBP 35
  • 88.74 (n)
  • 91.23 (a)
-- 36
  • 84 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ebp 35
  • 80.67 (n)
  • 79 (a)
Ebp 16
Ebp 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ebp 35
  • 81.89 (n)
  • 82.19 (a)
oppossum
(Monodelphis domestica)
Mammalia EBP 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EBP 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EBP 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ebp-prov 35
zebrafish
(Danio rerio)
Actinopterygii ebp 35
  • 60.98 (n)
  • 61.14 (a)
ebp 36
  • 57 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons HYD1 35
  • 45.16 (n)
  • 33 (a)
rice
(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

ENSEMBL:
Gene Tree for EBP (if available)
TreeFam:
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
VAR_012105 Chondrodysplasia punctata 2, X-linked dominant (CDPX2)
VAR_012106 Chondrodysplasia punctata 2, X-linked dominant (CDPX2)
VAR_012107 Chondrodysplasia punctata 2, X-linked dominant (CDPX2)
rs28935174 Chondrodysplasia punctata 2, X-linked dominant (CDPX2) 48,527,256(+) CCTCC(A/G)CTTCA reference, missense
VAR_074633 MEND syndrome (MEND)

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)

Relevant External Links for EBP Gene

Human Gene Mutation Database (HGMD)
EBP

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

Disorders for EBP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mend syndrome
  • male ebp disorder with neurological defects
chondrodysplasia punctata, x-linked dominant
  • cartilage-hair hypoplasia
digital anomalies-intellectual disability-short stature syndrome
chondrodysplasia punctata 2, x-linked
  • conradi-hünermann syndrome
chondrodysplasia punctata
  • chondrodysplasia calcificans congenita
- elite association - COSMIC cancer census association via MalaCards
Search EBP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

No data available for Genatlas for EBP Gene

Publications for EBP Gene

  1. 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 67
  2. Two novel EBP mutations in Conradi-HA1nermann-Happle syndrome. (PMID: 18573709) Ausavarat S. … Shotelersuk V. (Eur J Dermatol 2008) 3 23
  3. Novel EBP gene mutations in Conradi-HA1nermann-Happle syndrome. (PMID: 17949453) Steijlen P.M. … van Steensel M.A. (Br. J. Dermatol. 2007) 3 23
  4. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. (PMID: 12483303) Shirahama S. … Ikegawa S. (Hum. Genet. 2003) 3 23
  5. SR31747A is a sigma receptor ligand exhibiting antitumoural activity both in vitro and in vivo. (PMID: 12569389) Berthois Y. … Casellas P. (Br. J. Cancer 2003) 3 23

Products for EBP Gene

Sources for EBP Gene

Content