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

EBP Gene

protein-coding   GIFtS: 60
GCID: GC0XP048380

emopamil binding protein (sterol isomerase)

(Previous name: emopamil-binding protein (sterol isomerase) )
(Previous symbol: CDPX2)
 Explore 16 diseases affiliated with
EBP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EBP    

Aliases
for EBP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Emopamil Binding Protein (Sterol Isomerase)1 2     D8-D7 Sterol Isomerase2 3
CDPX21 2 5     3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase1
CPX1 2 5     3-Beta-Hydroxysteroid-Delta-8,Delta-7-Isomerase1
CPXD1 2 5     Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome)2
CHO21 2     Sterol 8-Isomerase2
Emopamil-Binding Protein (Sterol Isomerase)1 2     EC 5.3.3.53
Cholestenol Delta-Isomerase2 3     Emopamil-Binding Protein3
Delta(8)-Delta(7) Sterol Isomerase2 3     

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


Summaries
for EBP gene

(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:
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)

UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
Function: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers




Genomic Views
for EBP gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
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 plasmid: EBP 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

Proteins
for EBP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15125

    • EBP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006570.1  
    ENSEMBL proteins: 
     ENSP00000417052   ENSP00000390031   ENSP00000405832  
    Reactome Protein details: Q15125
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    Uscn 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:0005792microsome ----
    GO:0005887integral to plasma membrane TAS7706302
    GO:0016021integral to membrane ----


    EBP for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EBP

    Protein Domains /
    Families
    for EBP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EBP for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007905 EBP

    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


    Function
    for EBP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    hsa-mir-218 (MIRT001061)

    OriGene 3'-UTR Clone: EBP
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EBP
    1 QIAGEN miScript miRNA Assays for microRNA that regulate EBP:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmid: EBP 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EBP (see all 7)
    OriGene shRNA RFP: EBP
    OriGene siRNA: EBP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EBP

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

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBP 

    Cell Line
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    Search LifeMap BioReagents cell lines for EBP

    In Situ Assay
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    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


    Animal Models:
         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


    Pathways & Interactions
    for EBP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1cholesterol biosynthesis III (via desmosterol)
    		cholesterol biosynthesis III (via desmosterol)1.00
    		cholesterol biosynthesis II (via 24,25-dihydrolanosterol)1.00
    		cholesterol biosynthesis I1.00
    		Steroid biosynthesis0.60
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Cholesterol biosynthesis
    		Cholesterol biosynthesis1.00
    		superpathway of cholesterol biosynthesis0.81

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 BioSystems Pathways for EBP 
        superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis I
    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
    SC5DLENSP000002640274STRING: ENSP00000264027
    TM7SF2ENSP000002792634STRING: ENSP00000279263
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0016126sterol biosynthetic process ----


    EBP for ontologies           About GeneDecksing



    Drugs & Compounds
    for EBP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for EBP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EBP
    1 QIAGEN miScript miRNA Assays for microRNA that regulate EBP:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmid: EBP 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    BU687302 BQ054324 BM969488 BF038094 CR609847 BU838069 CR619002 BM684662 
    BC001549 CR616138 BC046501 CD673242 BU674619 BC001572 BU169609 BU616151 
    CA487692 CA489108 BQ021443 BM969158 BM930811 CR542094 CB159316 CR603434 

    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

    Expression
    for EBP gene

    (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
    CGAP TAG: GGCAGGCACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for EBP gene

    (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 6/16 species (see all 16)    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
    		 --
    		 64(a)
    		 1 ↔ 1
    		 GL343326.1(702324-710426)
    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
    for EBP gene

    (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



    Genomic Variants
    for EBP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/110 NCBI SNPs in EBP are shown (see all 110)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs30481,2
    		C,F,H,non-pathogenic48382174(+) AACGCG/TGGCCC 2 A syn1 ese321Minor allele frequency- T:0.30MN NS EA NA WA 6478
    rs1048947951,2
    		Cpathogenic48382212(+) AAGACC/TGGACA 2 P L mis10--------
    rs1048947981,2
    		Cpathogenic48382246(+) ACCTGA/GCATAT 2 * W stg10--------
    rs1048948001,2
    		Cpathogenic48382397(+) TGATCA/GAGGGC 2 K E mis10--------
    rs1048947921,2
    		Cpathogenic48385590(+) CCTGTA/GGGGAC 2 * W stg10--------
    rs289351741,2
    		Cpathogenic48385644(+) CCTCCG/ACTTCA 2 /H /R mis1 ese32Minor allele frequency- A:0.01NS NA 98
    rs1048947931,2
    		Cpathogenic48386675(+) GATTCC/TAGCAC 2 Q * stg10--------
    rs1048947941,2
    		Cpathogenic48386739(+) CCTGTA/GGCTGG 2 * W stg10--------
    rs1820840821,2
    		--48378396(+) AAAATA/CAATAA 5 -- int1 us2k10--------
    rs1866952611,2
    		--48378659(+) GGGGCC/TTCGCC 5 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for EBP (48379546 - 48387104 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EBP
         1 CNV: 7789
    Human Gene Mutation Database (HGMD): EBP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EBP
    DNA2.0 Custom Variant and Variant Library Synthesis for EBP

    Disorders / Diseases
    for EBP gene

    (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
    EBP for disorders           About GeneDecksing

    OMIM gene information: 300205   
    OMIM 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 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

    16 diseases for EBP:    About MalaCards
    chondrodysplasia punctata    chondrodysplasia punctata 2, x-linked    chondrodysplasia punctata 2 x-linked dominant    chondrodysplasia
    smith-lemli-opitz syndrome    rhizomelic chondrodysplasia punctata    mevalonic aciduria    child syndrome
    anaplastic large cell lymphoma    short stature    esotropia    skin atrophy
    ichthyosis    alopecia    endocarditis    cholesterol

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EBP (10 documents)

    Export disorders for EBP gene to outside databases

    Publications
    for EBP gene

    (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 63):
    (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. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    9. 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)
    10. 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)1, 3 Schindelhauer D.... Meindl A. (1996)

    External Searches for EBP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EBP gene

    (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

    Other Databases showing EBP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EBP gene

    (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

    Intellectual Property
    for EBP gene

    (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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