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EBP (emopamil binding protein (sterol isomerase))

Identity

Alias_namesCDPX2
emopamil-binding protein (sterol isomerase)
Alias_symbol (synonym)CPX
CPXD
CHO2
Other aliasMEND
HGNC (Hugo) EBP
LocusID (NCBI) 10682
Atlas_Id 62709
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48521776 and ends at 48528716 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EBP   3133
Cards
Entrez_Gene (NCBI)EBP  10682  emopamil binding protein (sterol isomerase)
AliasesCDPX2; CHO2; CPX; CPXD; 
MEND
GeneCards (Weizmann)EBP
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chrX:48521776-48528716 [Contig_View]  EBP [Vega]
TCGA cBioPortalEBP
AceView (NCBI)EBP
Genatlas (Paris)EBP
WikiGenes10682
SOURCE (Princeton)EBP
Genetics Home Reference (NIH)EBP
Genomic and cartography
GoldenPath hg38 (UCSC)EBP  -     chrX:48521776-48528716 +  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EBP  -     Xp11.23   [Description]    (hg19-Feb_2009)
EnsemblEBP - Xp11.23 [CytoView hg19]  EBP - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBIEBP [Mapview hg19]  EBP [Mapview hg38]
OMIM300205   300960   302960   
Gene and transcription
Genbank (Entrez)AU128761 BC001549 BC001572 BC046501 CA488777
RefSeq transcript (Entrez)NM_006579
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EBP
Cluster EST : UnigeneHs.30619 [ NCBI ]
CGAP (NCI)Hs.30619
Gene ExpressionEBP [ NCBI-GEO ]   EBP [ EBI - ARRAY_EXPRESS ]   EBP [ SEEK ]   EBP [ MEM ]
Gene Expression Viewer (FireBrowse)EBP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10682
GTEX Portal (Tissue expression)EBP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15125   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15125  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15125
Splice isoforms : SwissVarQ15125
PhosPhoSitePlusQ15125
Domaine pattern : Prosite (Expaxy)EXPERA (PS51751)   
Domains : Interpro (EBI)EBP    EXPERA   
Domain families : Pfam (Sanger)EBP (PF05241)   
Domain families : Pfam (NCBI)pfam05241   
Conserved Domain (NCBI)EBP
DMDM Disease mutations10682
Blocks (Seattle)EBP
SuperfamilyQ15125
Peptide AtlasQ15125
HPRD02192
IPIIPI00008599   IPI00642218   IPI00643669   
Protein Interaction databases
DIP (DOE-UCLA)Q15125
IntAct (EBI)Q15125
BioGRIDEBP
STRING (EMBL)EBP
ZODIACEBP
Ontologies - Pathways
QuickGOQ15125
Ontology : AmiGOC-8 sterol isomerase activity  skeletal system development  steroid delta-isomerase activity  steroid delta-isomerase activity  transmembrane signaling receptor activity  protein binding  nuclear envelope  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  cholesterol biosynthetic process  drug transmembrane transport  signal transduction  cholesterol metabolic process  drug transmembrane transporter activity  hemopoiesis  cytoplasmic vesicle  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  cholestenol delta-isomerase activity  
Ontology : EGO-EBIC-8 sterol isomerase activity  skeletal system development  steroid delta-isomerase activity  steroid delta-isomerase activity  transmembrane signaling receptor activity  protein binding  nuclear envelope  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  cholesterol biosynthetic process  drug transmembrane transport  signal transduction  cholesterol metabolic process  drug transmembrane transporter activity  hemopoiesis  cytoplasmic vesicle  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  cholestenol delta-isomerase activity  
Pathways : KEGGSteroid biosynthesis   
NDEx NetworkEBP
Atlas of Cancer Signalling NetworkEBP
Wikipedia pathwaysEBP
Orthology - Evolution
OrthoDB10682
Phylogenetic Trees/Animal Genes : TreeFamEBP
HOVERGENQ15125
HOGENOMQ15125
Homologs : HomoloGeneEBP
Homology/Alignments : Family Browser (UCSC)EBP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEBP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EBP
dbVarEBP
ClinVarEBP
1000_GenomesEBP 
Exome Variant ServerEBP
ExAC (Exome Aggregation Consortium)EBP (select the gene name)
Genetic variants : HAPMAP10682
Genomic Variants (DGV)EBP [DGVbeta]
DECIPHEREBP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEBP 
Mutations
ICGC Data PortalEBP 
TCGA Data PortalEBP 
Broad Tumor PortalEBP
OASIS PortalEBP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEBP&nbóp;&n"sp9[overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEBP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch EBP
DgiDB (Drug Gene Interaction Database)EBP
DoCM (Curated mutations)EBP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EBP (select a term)
intoGenEBP
Cancer3DEBP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300205    300960    302960   
Orphanet22068    22861    10376   
MedgenEBP
Genetic Testing Registry EBP
NextProtQ15125 [Medical]
TSGene10682
GENETestsEBP
Target ValidationEBP
Huge Navigator EBP [HugePedia]
snp3D : Map Gene to Disease10682
BioCentury BCIQEBP
ClinGenEBP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10682
Chemical/Pharm GKB GenePA27587
Clinical trialEBP
Miscellaneous
canSAR (ICR)EBP (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEBP
EVEXEBP
GoPubMedEBP
iHOPEBP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:06:48 CEST 2017

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