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EBP Gene

protein-coding   GIFtS: 56

GC0XP048264
emopamil binding protein (sterol isomerase)
(Previous name: emopamil-binding protein (sterol isomerase) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CDPX2)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
3-beta-hydroxysteroid-delta-8,delta-7-isomerase 2
CDPX2 2, 5
CHO2 1, 2
CPX 1, 2, 5
CPXD 1, 2, 5
EC 5.3.3.5 3
Descriptions
Cholestenol Delta-isomerase 3
Chondrodysplasia punctata-2, X-linked dominant (Happle
syndrome) 2
D8-D7 sterol isomerase 3
Delta(8)-Delta(7) sterol isomerase 3
Emopamil-binding protein 3
emopamil binding protein (sterol isomerase) 2
emopamil-binding protein (sterol isomerase) 1, 2
sterol 8-isomerase 2
External Ids
HGNC: 31331
Entrez Gene: 106822
UniProtKB: Q151253
Ensembl: ENSG000001471557
Search outside databases for aliases for EBP gene

Previous GC identifers: GC0XP047183 GC0XP046640 GC0XP047427 GC0XP047428 GC0XP048136

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for EBP:
The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the EBP gene  

Entrez Gene cytogenetic band: Xp11.23-p11.22   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23-p11.22

EBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048264:     (about GC identifiers)

Start:
48,265,177 bp from pter
End:
48,272,048 bp from pter
Size:
6,872 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_079573.3  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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: Q6IBI9

REFSEQ proteins: NP_006570.1  

ENSEMBL proteins: 
ENSP00000276096 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
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Browse Abcam for Recombinant Proteins
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum TAS7706302
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0005792 microsome IEA--
GO:0005887 integral to plasma membrane TAS7706302
GO:0016020 membrane IEA--
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Antibodies for EBP: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for EBP
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for EBP

Assays for EBP: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR007905 EBP


   GeneDecks  EBP for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q15125

ProtoNet protein and cluster: Q15125

1 Blocks protein family: IPB007905 Emopamil-binding

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (EBP)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (EBP)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006579

              Applied Biosystems Silencer® siRNAs for EBP

              Sigma-Aldrich siRNA and siRNA Panels for EBP  
                     Sigma-Aldrich shRNA for EBP  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for EBP
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006579
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_006579
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_006579 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_006579

UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
Function: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers
Catalytic activity: 5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol
Enzyme Number (IUBMB): EC 5.3.3.5 

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

4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ebp):

growth/sizelethality-postnatallethality-prenatal/perinatalskin/coat/nails

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000247 C-8 sterol isomerase activity IEA--
GO:0004769 steroid delta-isomerase activity TAS10391219
GO:0004888 transmembrane receptor activity TAS7706302
GO:0015238 drug transporter activity TAS7706302
GO:0016853 isomerase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Invitrogen iPath™ Online BioAtlas - Pathway for EBP (Maps provided by GeneGo):
 Cholesterol metabolism I Cholesterol Biosynthesis

   GeneDecks  EBP for the pathways selected above  
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for  EBP  (Your Favorite Gene powered by Ingenuity) 
 C21-Steroid Hormone Metabolism
 Biosynthesis of Steroids
 Androgen and Estrogen Metabolism

   GeneDecks  EBP for the pathways selected above  
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1 Kegg Pathway  (Kegg details for EBP):
 hsa00100 Biosynthesis of steroids

   GeneDecks  EBP for the pathways selected above  
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UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125
Pathway: Steroid biosynthesis; cholesterol biosynthesis

 Gene Network CentralTM Interacting Genes and Proteins Network for  EBP 

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0001501 skeletal system development TAS10391219
GO:0006695 cholesterol biosynthetic process IEA--
GO:0030097 hemopoiesis IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Sigma-Aldrich Small Molecules for EBP:
Inhibitor

Browse Tocris compounds for EBP
6 Novoseek chemical compound relationships for EBP gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
sr 31747a 91.21 7 12569389 (2), 9618436 (1)
kalinin 78.07 4 9730919 (1), 9618436 (1)
sterol 72.89 15 8798407 (3), 12133002 (2), 12569389 (1), 11171067 (1) (see all 8)
lanosterol 69.54 1 11493318 (1)
3beta-hydroxysteroid 57.84 1 15452860 (1)
cholesterol 52.77 19 12503101 (1), 17949453 (1), 9034197 (1), 11171067 (1) (see all 12)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (EBP)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (EBP)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006579

              Sigma-Aldrich siRNA and siRNA Panels for EBP  
                     Sigma-Aldrich shRNA for EBP  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_006579  

REFSEQ mRNAs for EBP gene: 

NM_006579.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_006579  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006579
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_006579
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_006579 

Additional cDNA sequence: 

BC001549.1 BC001572.1 BC046501.1 CR456815.1 CR542094.1 CR601932.1 CR603434.1 CR609847.1 
CR615017.1 CR616138.1 CR619002.1 Z37986.1 

17 DOTS entries:

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

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

BM684662 CA487692 BU674619 BC001572 AV685537 BU169609 CB159316 CR542094 
CR603434 CF130850 CR616138 BU687302 BC046501 BF981841 BQ646014 BQ021443 
CR619002 BM856155 CD673242 AW591319 BQ011077 AU107557 BU616151 CR609847 

highest scoring ESTs for EBP:

Z37986 AA033514 AA312226 BQ323643 BQ355317 AA916298 AI026104 AI630430 AL562158 AW062916 

Unigene Cluster for EBP:

Emopamil binding protein (sterol isomerase)
Hs.30619  [show with all ESTs]
Unigene Representative Sequence: BE253850


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for EBP

1 Ensembl transcript including schematic representation:
ENST00000276096  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EBP expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for EBP

1 / 2 / 3

5 probe-sets matching EBP gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
32536_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 Z37986 0.80 0.80 0.80 1

213787_s_at2, 3 U133-A 1 1.00 1.00 -- -- AV702405 0.60 0.75 0.68 1

202735_at2, 3 U133-A 2 1.00 0.95 -- -- NM_006579 0.40 0.67 0.55 1

213787_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

202735_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
GeneDecks  EBP for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GGCAGGCACA

SOURCE GeneReport for Unigene cluster: Hs.30619

Expression variation in blood from EXPOLDB for EBP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for EBP gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
LOC6094301   -- similar to 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase more 88.74(n)
91.23(a)
609430  XM_845931.1  XP_851024.1 
cow
(Bos taurus)
EBP1   -- emopamil binding protein (sterol isomerase) 86.67(n)
85.22(a)
515569  NM_001034500.1  NP_001029672.1 
rat
(Rattus norvegicus)
Ebp1   -- emopamil binding protein (sterol isomerase) 81.16(n)
80.87(a)
117278  NM_057137.1  NP_476478.1 
mouse
(Mus musculus)
Ebp1, 5 X (2.00 cM)5
phenylalkylamine Ca2+ antagonist (emopamil) binding more1, 5 80(n)1
77.83(a)1
135951  NM_007898.21  NP_031924.11 
 AI2553995  AK0081135  (see all 11)
zebrafish
(Danio rerio)
zgc:918951   -- zgc:91895 60.06(n)
59.91(a)
436600  NM_001002328.1  NP_001002328.1 
About this table        Species with no ortholog for EBP

ENSEMBL Gene Tree for EBP
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for EBP gene
EBPL2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/29 NCBI SNPs in EBP are shown (see all 29 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 19)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs48244501,2
F,H48272409(+) TCCTCC/ACATGG 1 -- ng314Minor allele frequency- A:0.39EU EA WA 418
rs30481,2
C,F,H48267118(+) AACGCG/TGGCCC 1 A/A syn1 ese37Minor allele frequency- T:0.36MN EU EA WA NA 692
--
rs117971951,2
A,C48266883(+) tccgtC/Ttgaaa 1 -- int10--------
rs31777771,2
--48272042(+) TCTTGA/CCTCTA 1 -- ut31 ese30--------
--
rs557723771,2
--48267061(+) TTTTT-/TAACTT 1 -- ut510--------
rs10494351,2
--48271973(+) AGAACA/CCAGAT 1 -- ut31 ese31Minor allele frequency- C:0.00MN 184
rs289360731,2
--48267341(+) TGATCA/GAGGGC 1 E/K mis10--------
rs284656171,2
--48264729(+) CTGAAC/GAGCTG 1 -- ng51 ese30--------
--
rs603311971,2
--48264985(+) TTGGCC/GCGTCC 1 -- ng510--------
--
rs352658351,2
--48267296(-) CAGGG-/CACAGT 1 S/V fra10--------
About this table

HapMap Linkage Disequilibrium images for EBP (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300205   disorders: 302960  

UniProtKB/Swiss-Prot: EBP_HUMAN, Q15125

  • Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2)
    [MIM:302960]; also known as Conradi-Hunermann-Happle syndrome. CDP is a clinically and 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
  • 3 Novoseek disease relationships for EBP gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cdpx2 98.71 50 17949453 (4), 11038443 (4), 15953085 (3), 12509714 (3) (see all 18)
    chondrodysplasia punctata 96.49 9 12509714 (2), 18395876 (2), 11038443 (1), 12483303 (1)
    child syndrome 81.00 2 17625999 (1), 10710235 (1)
    About this table

    Human Gene Mutation Database: EBP
    Human Genome Epidemiology Navigator: EBP (7 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

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

    10/51 PubMed articles for EBP gene (see all 51 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 10682 HGNC: 3133 AceView: EBP Ensembl:ENSG00000147155 euGenes: HUgn10682
    ECgene: EBP H-InvDB: EBP
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=EBP
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for EBP:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for EBP Antibodies for EBP
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for EBP Small molecules for EBP
     "Your Favorite Gene" Pathwaysfeedback


      
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