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Aliases & Descriptions for EBP
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases 3-beta-hydroxysteroid-delta-8,delta-7-isomerase 2 CDPX2 2 , 5 CHO2 1 , 2 CPX 1 , 2 , 5 CPXD 1 , 2 , 5 EC 5.3.3.5 3
Descriptions Cholestenol Delta-isomerase 3 Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) 2 D8-D7 sterol isomerase 3 Delta(8)-Delta(7) sterol isomerase 3 Emopamil-binding protein 3 emopamil binding protein (sterol isomerase) 2 emopamil-binding protein (sterol isomerase) 1 , 2 sterol 8-isomerase 2
Search outside databases for aliases for EBP genePrevious GC identifers: GC0XP047183 GC0XP046640 GC0XP047427 GC0XP047428 GC0XP048136
Summaries for EBP (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for EBP : The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. Itis 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 maybe a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulumof different tissues. This protein shares structural features with bacterial and eukaryontic drugtransporting proteins. It has four putative transmembrane segments and contains two conservedglutamate residues which may be involved in the transport of cationic amphiphilics. Anotherprominent feature of this protein is its high content of aromatic amino acid residues (>23%) inits transmembrane segments. These aromatic amino acid residues have been suggested to be involvedin the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasiapunctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq] UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125 Function : Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers
Genomic Location for EBP
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the EBP gene Entrez Gene cytogenetic band: Xp11.23-p11.22 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23-p11.22 EBP Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP048264:
(about GC identifiers )
Start:
48,265,177 bp from pter
End:
48,272,048 bp from pter
Size:
6,872 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000023.9 NT_079573.3 Proteins for EBP
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125 (See
protein sequence )Recommended Name: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase Size : 230 amino acids; 26353 Da
Subcellular location : Endoplasmic reticulum membrane; Multi-pass membrane protein
Miscellaneous : Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug
Secondary accessions : Q6IBI9
REFSEQ proteins: NP_006570.1 ENSEMBL proteins: ENSP00000276096 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for EBP: Assays for EBP:
Protein
Domains/ Families for EBP(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q15125 ProtoNet protein and cluster: Q15125
1 Blocks protein family : IPB007905 Emopamil-binding UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125 Similarity : Belongs to the EBP family
Gene Function for EBP
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
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Clones , and
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Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006579 Applied Biosystems Silencer ® siRNAs for EBP Sigma-Aldrich siRNA and siRNA Panels for EBP Sigma-Aldrich shRNA for EBP Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_006579                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006579                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_006579  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006579 UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125 Function : Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomersCatalytic activity : 5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-olEnzyme Number (IUBMB): EC 5.3.3.5
Genatlas biochemistry entry for EBP :3 hydroxysteroid-delta 8-delta 7-isomerase beta ,cholesterol biosynthesis pathway, homodimerizingin the endoplasmic reticulum,converting cholesterol 8(9)-en 3 beta to bathosterol (cholest-7en-3beta-ol),also binding emopamil,lamoxifen
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Ebp) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for EBP
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for EBP (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125 Pathway : Steroid biosynthesis; cholesterol biosynthesis
Gene Network CentralTM Interacting Genes and Proteins Network for EBP 3 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for EBP (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Sigma-Aldrich Small Molecules for EBP:Inhibitor
Browse Tocris compounds for EBP 6 Novoseek chemical compound relationships for EBP gene
About this table
Transcripts for EBP(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006579 Sigma-Aldrich siRNA and siRNA Panels for EBP Sigma-Aldrich shRNA for EBP Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_006579
REFSEQ mRNAs for EBP gene: NM_006579.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006579
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006579                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006579                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_006579  
Additional cDNA sequence: BC001549.1 BC001572.1 BC046501.1 CR456815.1 CR542094.1 CR601932.1 CR603434.1 CR609847.1 CR615017.1 CR616138.1 CR619002.1 Z37986.1
17 DOTS entries : DT.92016558 DT.455094 DT.100821263 DT.40286237 DT.95176938 DT.101979561 DT.121315719 DT.121315747 DT.121315785 DT.95191312 DT.95295065 DT.97846529 DT.100821264 DT.121315795 DT.95176929 DT.91986977 DT.92435882
24/248 AceView cDNA sequences (see all 248
):BM684662 CA487692 BU674619 BC001572 AV685537 BU169609 CB159316 CR542094 CR603434 CF130850 CR616138 BU687302 BC046501 BF981841 BQ646014 BQ021443 CR619002 BM856155 CD673242 AW591319 BQ011077 AU107557 BU616151 CR609847
highest scoring ESTs for EBP :Z37986 AA033514 AA312226 BQ323643 BQ355317 AA916298 AI026104 AI630430 AL562158 AW062916
Unigene Cluster for EBP: Emopamil binding protein (sterol isomerase) Hs.30619 [show with all ESTs ] Unigene Representative Sequence: BE253850 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for EBP ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c SP1 :         -       -         SP2 :     -     -       -         SP3 :               -   -       SP4 :                      
About this scheme ECgene alternative splicing isoforms for EBP 1 Ensembl transcript including schematic representation : ENST00000276096
Expression for EBP
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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EBP expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for EBP 1 / 2 / 3
5 probe-sets matching EBP gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGCAGGCACASOURCE GeneReport for Unigene cluster: Hs.30619 Expression variation in blood from EXPOLDB for EBP
Orthologs for EBP
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for EBP gene from 5/10 species (see all 10
)
About this table Species with no ortholog for EBP ENSEMBL Gene Tree for EBP Paralogs for EBP (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for EBP gene EBPL 2
SNPs/Variants for EBP (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for EBP (up to first 250kb)
Disorders & Mutations for EBP
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 300205 disorders : 302960 UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2)[MIM:302960]; also known as Conradi-Hunermann-Happle syndrome. CDP is a clinically and geneticallyheterogeneous disorder characterized by punctiform calcification of the bones. The key clinicalfeatures of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature.CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by anincreased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues
3 Novoseek disease relationships for EBP gene
About this table Human Gene Mutation Database : EBP Human Genome Epidemiology Navigator: EBP (7 documents)
Medical News for EBP (Possibly Related Articles in
Doctor's Guide )
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Publications for EBP (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/51 PubMed articles for EBP gene (see all 51
): Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. (PubMed id 7706302) 2, 3, 4 Hanner M....Glossmann H. (1995) Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PubMed id 12760743) 1, 3, 4 Moebius F.F....Glossmann H. (2003) The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. (PubMed id 10942423) 1, 3, 4 Has C.... Traupe H. (2000) Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. (PubMed id 10391218) 1, 3, 4 Derry J.M.J.... Herman G.E. (1999) Identification of a novel mutation in 3beta-hydroxysteroid-Delta8- Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. (PubMed id 11493318) 1, 3, 4 Becker K.... Karpati S. (2001) Mutations in the gene encoding 3-beta-hydroxysteroid- delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome. (PubMed id 10391219) 1, 3, 4 Braverman N.... Valle D. (1999) 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. (PubMed id 9894009) 1, 3, 4 Moebius F.F....Glossmann H. (1999) The DNA sequence of the human X chromosome. (PubMed id 15772651) 3, 4 Ross M.T.... Bentley D.R. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. (PubMed id 8938429) 2, 3 Schindelhauer D....Meindl A. (1996)
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Genome Databases showing EBP
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
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Other Databases showing EBP
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--
Specialized Databases showing EBP (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=EBP
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-- Services for EBP (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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