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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EBP Gene

protein-coding   GIFtS: 61
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

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

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 punctata 2 x-linked dominant, and among its related super-pathways are superpathway of cholesterol biosynthesis and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_079573.4  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EBP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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: Q6FGL3 Q6IBI9

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

Explore proteomics data for EBP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15125

  • EBP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EBP Protein Expression
    REFSEQ proteins: NP_006570.1  
    ENSEMBL proteins: 
     ENSP00000417052   ENSP00000390031   ENSP00000405832  
    Reactome Protein details: Q15125
    Human Recombinant Protein Products for EBP: 
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    Cloud-Clone Corp. Proteins for EBP 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    EBP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  hematopoietic system  integument  mortality/aging 

    EBP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EBP 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EBP 
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    miRNA
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    miRTarBase miRNAs that target EBP:
    hsa-mir-218 (MIRT001061)

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate EBP:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidEBP 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EBP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    superpathway of cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.59
    cholesterol biosynthesis III (via desmosterol)0.59
    Steroid biosynthesis0.48
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40

    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)

    3        Reactome Pathways for EBP
        Metabolism
    Cholesterol biosynthesis
    Metabolism of lipids and lipoproteins


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EBP

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

    5/12 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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10391219
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0006855drug transmembrane transport TAS7706302
    GO:0008203cholesterol metabolic process TAS10391219
    GO:0016125sterol metabolic process ----

    EBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EBP for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about EBP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate EBP:
    hsa-miR-29a*
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    Inhib. RNA
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    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 

    24/248 AceView cDNA sequences (see all 248):

    CR616138 BQ646014 BF038094 BQ021443 BM856155 BU616151 BM678828 BU674619 
    AU107557 CA489108 BM684662 CB159316 CD673242 AV685537 CA487692 CA428007 
    CR619002 CF130850 BC001549 BM969158 CR609847 CR603434 CA391271 BQ054324 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See EBP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EBP

    SOURCE GeneReport for Unigene cluster: Hs.30619
        SABiosciences Custom PCR Arrays for EBP
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    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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EBP gene from 6/12 species (see all 12)    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(n)1
    77.83(a)1
      X (3.70 cM)5
    135951  NM_007898.21  NP_031924.11 
     81853295 
    lizard
    (Anolis carolinensis)
    Reptilia EBP6
    Uncharacterized protein
    61(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) 60.06(n)
    59.91(a)
      436600  NM_001002328.1  NP_001002328.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HYD11 cholestenol delta-isomerase 46.07(n)
    33.49(a)
      838593  NM_101859.3  NP_173433.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01036001 hypothetical protein 47.85(n)
    40.1(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
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/129 SNPs in EBP are shown (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
    ----------
    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--------
    VAR_0121054
    Chondrodysplasia punctata 2, X-linked dominant (CDPX2)4--see VAR_0121052 E K mis40--------
    rs289351741,2,4
    CChondrodysplasia punctata 2, X-linked dominant (CDPX2)4 pathogenic148305683(+) CCTCCA/GCTTCA 2 H R mis1 ese30--------
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 18 diseases for EBP:    About MalaCards
    chondrodysplasia punctata 2, x-linked    chondrodysplasia punctata 2 x-linked dominant    chondrodysplasia    child syndrome
    alk-positive anaplastic large cell lymphoma    gangliosidosis gm1    esotropia    skin atrophy
    morquio syndrome b    mevalonic aciduria    smith-lemli-opitz syndrome    rhizomelic chondrodysplasia punctata
    anaplastic large cell lymphoma    endocarditis    ichthyosis    short stature
    alopecia    cataract

    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

    PubMed articles for EBP gene, integrated from 9 sources (see all 66):
    (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. (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. (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. (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. (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. (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. (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. (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. (2008)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 10682 HGNC: 3133 AceView: EBP Ensembl:ENSG00000147155 euGenes: HUgn10682
    ECgene: EBP Kegg: 10682 H-InvDB: EBP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EBP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EBP

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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