Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



EBP Gene

protein-coding   GIFtS: 60
GCID: GC0XP048380

Emopamil Binding Protein (Sterol Isomerase)

(Previous name: emopamil-binding protein (sterol isomerase))
(Previous symbol: CDPX2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Emopamil Binding Protein (Sterol Isomerase)1 2     Chondrodysplasia Punctata-21
CDPX21 2 5     delta-7-isomerase1
Emopamil-Binding Protein (Sterol Isomerase)1 2     X-Linked Dominant (Happle Syndrome)1
Sterol 8-Isomerase1 2     3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase2
Cholestenol Delta-Isomerase2 3     3-beta-hydroxysteroid-delta-8,delta-7-isomerase2
Delta(8)-Delta(7) Sterol Isomerase2 3     CHO22
D8-D7 Sterol Isomerase2 3     Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome)2
CPX2 5     EC 5.3.3.53
CPXD2 5     Emopamil-Binding Protein3
3-beta-hydroxysteroid-delta-81     

External Ids:    HGNC: 31331   Entrez Gene: 106822   Ensembl: ENSG000001471557   OMIM: 3002055   UniProtKB: Q151253   

Export aliases for EBP gene to outside databases

Previous GC identifers: GC0XP047183 GC0XP046640 GC0XP047427 GC0XP047428 GC0XP048136 GC0XP048264 GC0XP046043


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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, and chondrodysplasia. 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: EBP_HUMAN, Q15125
Function: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the EBP gene promoter:
         p53   Nkx2-5   C/EBPalpha   CREB   PPAR-alpha   PPAR-gamma1   GATA-6   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEBP promoter sequence
   Search Chromatin IP Primers for EBP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EBP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
EBP gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048380:  view genomic region     (about GC identifiers)

Start:
48,379,546 bp from pter      End:
48,387,104 bp from pter
Size:
7,559 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
Miscellaneous: Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug
Secondary accessions: Q6FGL3 Q6IBI9

Explore the universe of human proteins at neXtProt for EBP: NX_Q15125

Explore proteomics data for EBP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006570.1  
    ENSEMBL proteins: 
     ENSP00000417052   ENSP00000390031   ENSP00000405832  
    Reactome Protein details: Q15125

    EBP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for EBP
    OriGene Protein Over-expression Lysate for EBP
    OriGene MassSpec for EBP
    OriGene Custom Protein Services for EBP
    GenScript Custom Purified and Recombinant Proteins Services for EBP
    Novus Biologicals EBP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EBP

    EBP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for EBP
    Novus Biologicals EBP Antibodies
    Abcam antibodies for EBP
    Cloud-Clone Corp. Antibodies for EBP
    Search ThermoFisher Antibodies for EBP
    LSBio Antibodies in human, mouse, rat for EBP

    EBP Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EBP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EBP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EBP
    Cloud-Clone Corp. CLIAs for EBP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR007905 EBP

    Graphical View of Domain Structure for InterPro Entry Q15125

    ProtoNet protein and cluster: Q15125

    1 Blocks protein domain: IPB007905 Emopamil-binding

    UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
    Similarity: Belongs to the EBP family


    EBP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EBP_HUMAN, Q15125
    Function: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers
    Catalytic activity: 5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol

         Genatlas biochemistry entry for EBP:
    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

         Enzyme Number (IUBMB): EC 5.3.3.51

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000247C-8 sterol isomerase activity IEA--
    GO:0004769steroid delta-isomerase activity TAS10391219
    GO:0004888transmembrane signaling receptor activity TAS7706302
    GO:0015238drug transmembrane transporter activity TAS7706302
    GO:0047750cholestenol delta-isomerase activity IEA--
         
    EBP for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ebp):
     embryogenesis  growth/size/body  hematopoietic system  integument  mortality/aging 

    EBP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EBP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EBP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EBP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EBP

    miRNA
    Products:
        
    miRTarBase miRNAs that target EBP:
    hsa-mir-218-5p (MIRT001061), hsa-mir-615-3p (MIRT040389), hsa-mir-92a-3p (MIRT049085), hsa-mir-324-3p (MIRT042892)

    Block miRNA regulation of human, mouse, rat EBP using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate EBP:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidEBP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EBP
    Predesigned siRNA for gene silencing in human, mouse, rat EBP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EBP

    Clone
    Products:
         
    OriGene clones in human, mouse for EBP (see all 7)
    OriGene ORF clones in mouse, rat for EBP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EBP (NM_001129)
    Sino Biological Human cDNA Clone for EBP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EBP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBP

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EBP
    Browse ESI BIO Cell Lines and PureStem Progenitors for EBP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    EBP_HUMAN, Q15125: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral component of plasma membrane TAS7706302
    GO:0016021integral component of membrane ----
    GO:0043231intracellular membrane-bounded organelle ----

    EBP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for EBP About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis III (via desmosterol)0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for EBP
        cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis III (via desmosterol)


    1 Reactome Pathway for EBP
        Cholesterol biosynthesis


    2 Kegg Pathways  (Kegg details for EBP):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
    Pathway: Steroid biosynthesis; cholesterol biosynthesis


    EBP for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EBP
    Interactions:

        GeneGlobe Interaction Network for EBP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for EBP (Q151253 ENSP000004170524) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EBPLQ9BY083, ENSP000002428274I2D: score=2 STRING: ENSP00000242827
    ESRRGP625083I2D: score=1 
    DHCR24ENSP000003603164STRING: ENSP00000360316
    SC5DENSP000002640274STRING: ENSP00000264027
    TM7SF2ENSP000002792634STRING: ENSP00000279263
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10391219
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0006855drug transmembrane transport TAS7706302
    GO:0007165signal transduction TAS7706302
    GO:0008203cholesterol metabolic process TAS10391219

    EBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EBP

    7 HMDB Compounds for EBP    About this table
    CompoundSynonyms CAS #PubMed Ids
    24-Methylenelophenol24-Methylene lophenol (see all 10)1176-52-9--
    4a-Methylfecosterol4alpha-Methylfecosterol ----
    5a-Cholest-8-en-3b-ol5alpha-Cholest-8(9)-en-3beta-ol (see all 7)566-97-2--
    5a-Cholesta-7,24-dien-3b-ol5alpha-Cholesta-7,24-dien-3beta-ol (see all 2)651-54-7--
    CalciumCa (see all 2)7440-70-2--
    Lathosterol(3beta)-Cholest-7-en-3-ol (see all 26)80-99-9--
    Zymosterol intermediate 2delta8,24-Cholestadien-3beta-ol (see all 6)128-33-6--

    10 Novoseek inferred chemical compound relationships for EBP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    emopamil 99.1 43 10942423 (2), 12975777 (2), 11471053 (2), 16033255 (2) (see all 20)
    sr 31747a 91.3 7 12569389 (2), 9618436 (1)
    kalinin 78.2 4 9730919 (1), 9618436 (1)
    u18666a 76.8 1 9730919 (1)
    sterol 72.4 15 8798407 (3), 12133002 (2), 12569389 (1), 11171067 (1) (see all 8)
    lanosterol 68.9 1 11493318 (1)
    3beta-hydroxysteroid 57.8 1 15452860 (1)
    cholesterol 52.2 19 12503101 (1), 17949453 (1), 9034197 (1), 11171067 (1) (see all 12)
    trifluoperazine 48.1 1 8798407 (1)
    tamoxifen 30.2 2 9730919 (1), 9618436 (1)



    EBP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for EBP gene: 
    NM_006579.2  

    Unigene Cluster for EBP:

    Emopamil binding protein (sterol isomerase)
    Hs.30619  [show with all ESTs]
    Unigene Representative Sequence: BE253850
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495186(uc004djx.4 uc004djz.3) ENST00000276096 ENST00000498425
    ENST00000446158 ENST00000414061 ENST00000466461
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EBP using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate EBP:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidEBP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EBP
    Predesigned siRNA for gene silencing in human, mouse, rat EBP
    Clone
    Products:
         
    OriGene clones in human, mouse for EBP (see all 7)
    OriGene ORF clones in mouse, rat for EBP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EBP (NM_001129)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EBP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EBP
    OriGene qSTAR qPCR primer pairs in human, mouse for EBP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EBP
      QuantiTect SYBR Green Assays in human, mouse, rat EBP
      QuantiFast Probe-based Assays in human, mouse, rat EBP

    Additional mRNA sequence: 

    BC001549.1 BC001572.1 BC046501.1 CR456815.1 CR542094.1 Z37986.1 

    17 DOTS entries:

    DT.92016558  DT.455094  DT.100821263  DT.40286237  DT.101979561  DT.121315719  DT.95176938  DT.121315785 
    DT.121315747  DT.95191312  DT.95295065  DT.97846529  DT.100821264  DT.121315795  DT.91986977  DT.95176929 
    DT.92435882 

    Selected AceView cDNA sequences (see all 248):

    BM969158 BU674619 CR542094 CR603434 BM678828 BF038094 BC046501 BU616151 
    CR601932 BQ011077 BM969488 BM856155 CA487692 CB159316 BQ646014 BQ021443 
    BC001572 CR609847 BM980779 AW591319 CA444276 BU687302 CA391271 BF981841 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EBP    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:                          -                 -                     
    SP2:              -           -                 -                     
    SP3:                                            -     -               
    SP4:                                                                  


    ECgene alternative splicing isoforms for EBP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    EBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGGCACA
    EBP Expression
    About this image

    EBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.30619
        Custom PCR Arrays for EBP
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EBP
    OriGene qSTAR qPCR primer pairs in human, mouse for EBP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EBP
    QuantiTect SYBR Green Assays in human, mouse, rat EBP
    QuantiFast Probe-based Assays in human, mouse, rat EBP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EBP gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ebp1 , 5 phenylalkylamine Ca2+ antagonist (emopamil) binding more1, 5 80.67(n)1
    79(a)1
      X (3.70 cM)5
    135951  NM_007898.21  NP_031924.11 
     81853295 
    lizard
    (Anolis carolinensis)
    Reptilia EBP6
    emopamil binding protein (sterol isomerase)
    63(a)
    1 ↔ 1
    GL343326.1(700620-711854)
    African clawed frog
    (Xenopus laevis)
    Amphibia ebp-prov2 emopamil binding protein (sterol isomerase) 75.06(n)    BC055967.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ebp1 emopamil binding protein (sterol isomerase) 60.98(n)
    61.14(a)
      436600  NM_001002328.1  NP_001002328.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HYD11 HYD1 45.16(n)
    33(a)
      838593  NM_101859.3  NP_173433.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01036001 Os01g0103600 48.81(n)
    41.84(a)
      4326449  NM_001048292.1  NP_001041757.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for EBP gene
    EBPL2  
    1 SIMAP similar gene for EBP using alignment to 3 protein entries:     EBP_HUMAN (see all proteins):
    EBPL

    EBP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for EBP (see all 129)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289351741,2,,4
    CChondrodysplasia punctata 2, X-linked dominant (CDPX2)4 pathogenic148305683(+) CCTCCA/GCTTCA 2 H R mis1 ese30--------
    VAR_0121064
    Chondrodysplasia punctata 2, X-linked dominant (CDPX2)4--see VAR_0121062 R Q mis40--------
    VAR_0121074
    Chondrodysplasia punctata 2, X-linked dominant (CDPX2)4--see VAR_0121072 R G mis40--------
    rs289360731,2,4
    Chondrodysplasia punctata 2, X-linked dominant (CDPX2)4--see VAR_0121052 mis40--------
    rs1048947951,2
    Cpathogenic148302252(+) AAGACC/TGGACA 2 P L mis10--------
    rs1048947981,2
    Cpathogenic148302286(+) ACCTGA/GCATAT 2 * W stg10--------
    rs1048947991,2
    Cpathogenic148302386(+) GGCGGC/TGACTG 2 R * stg10--------
    rs1048948001,2
    Cpathogenic148302437(+) TGATCA/GAGGGC 2 K E mis10--------
    rs1048947921,2
    Cpathogenic148305629(+) CCTGTA/GGGGAC 2 * W stg10--------
    rs1048947931,2
    Cpathogenic148306714(+) GATTCC/TAGCAC 2 Q * stg10--------

    HapMap Linkage Disequilibrium report for EBP (48379546 - 48387104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): EBP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EBP
    DNA2.0 Custom Variant and Variant Library Synthesis for EBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 300205   
    OMIM disorders: 302960  
    UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for EBP (see all 21):    
    About MalaCards
    chondrodysplasia punctata 2, x-linked    chondrodysplasia    chondrodysplasia punctata 2 x-linked dominant    alk-positive anaplastic large cell lymphoma
    esotropia    skin atrophy    mevalonic aciduria    smith-lemli-opitz syndrome
    gangliosidosis gm1    anaplastic large cell lymphoma    rhizomelic chondrodysplasia punctata    gangliosidosis
    morquio syndrome b    endocarditis    congenital muscular dystrophy    short stature
    alopecia    cataract    muscular dystrophy    multiple myeloma

    4 diseases from the University of Copenhagen DISEASES database for EBP:
    Smith-Lemli-Opitz syndrome     Skin atrophy     Alopecia     Esotropia

    EBP for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for EBP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cdpx2 98.7 50 17949453 (4), 11038443 (4), 15953085 (3), 12509714 (3) (see all 18)
    chondrodysplasia punctata 96.4 9 12509714 (2), 18395876 (2), 11038443 (1), 12483303 (1)
    child syndrome 80.7 2 17625999 (1), 10710235 (1)

    Genetic Association Database (GAD): EBP
    Human Genome Epidemiology (HuGE) Navigator: EBP (10 documents)

    Export disorders for EBP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for EBP gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with EBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. (PubMed id 7706302)1, 2, 3 Hanner M....Glossmann H. (J. Biol. Chem. 1995)
    2. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PubMed id 12760743)1, 2, 9 Moebius F.F....Glossmann H. (Biochem. J. 2003)
    3. The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. (PubMed id 10942423)1, 2, 9 Has C.... Traupe H. (Hum. Mol. Genet. 2000)
    4. Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. (PubMed id 10391218)1, 2, 9 Derry J.M.J.... Herman G.E. (Nat. Genet. 1999)
    5. Identification of a novel mutation in 3beta-hydroxysteroid-Delta8- Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. (PubMed id 11493318)1, 2, 9 Becker K.... Karpati S. (Exp. Dermatol. 2001)
    6. Mutations in the gene encoding 3-beta-hydroxysteroid- delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome. (PubMed id 10391219)1, 2, 9 Braverman N.... Valle D. (Nat. Genet. 1999)
    7. 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, 2, 9 Moebius F.F....Glossmann H. (Biochemistry 1999)
    8. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10682 HGNC: 3133 AceView: EBP Ensembl:ENSG00000147155 euGenes: HUgn10682
    ECgene: EBP Kegg: 10682 H-InvDB: EBP

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for EBP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EBP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for EBP gene:
    Search GeneIP for patents involving EBP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for EBP  
     OriGene qPCR primer pairs and template standards for EBP   OriGene Protein Over-expression Lysate for EBP  
     OriGene MassSpec something-or-other for EBP   OriGene clones in human, mouse for EBP  
     OriGene qSTAR qPCR primer pairs in human, mouse for EBP   OriGene Purified Protein for EBP  
     OriGene ORF clones in mouse, rat for EBP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EBP   OriGene Custom Protein Services for EBP  

     
     
     Block miRNA regulation of human, mouse, rat EBP using miScript Target Protectors SeqTarget long-range PCR primers for resequencing EBP
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EBP Predesigned siRNA for gene silencing in human, mouse, rat EBP
     QuantiFast Probe-based Assays in human, mouse, rat EBP QuantiTect SYBR Green Assays in human, mouse, rat EBP
     Custom PCR Arrays for EBP Search Chromatin IP Primers for EBP
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EBP  GeneGlobe Interaction Network for EBP
     Regulatory tfbs in EBP promoter
     GenScript Custom Purified and Recombinant Proteins Services for EBP GenScript cDNA clones with any tag delivered in your preferred vector for EBP
     GenScript Custom Assay Services for EBP GenScript Custom overexpressing Cell Line Services for EBP
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for EBP
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for EBP
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     EBP antibodies
     EBP lysates
     Antibodies for EBP
     See all of Abcam's Antibodies, Kits and Proteins for EBP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for EBP
     Antibodies for EBP
     ELISAs for EBP
     CLIAs for EBP



     Browse ESI BIO Cell Lines and PureStem Progenitors for EBP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBP
     SwitchGear 3'UTR luciferase reporter plasmids for EBP
     SwitchGear Promoter luciferase reporter plasmids for EBP
     Search ThermoFisher Antibodies for EBP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBP
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EBP
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EBP
     LSBio Antibodies in human, mouse, rat for EBP
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EBP gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4