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BMPER (BMP binding endothelial regulator)

Identity

Alias_symbol (synonym)Cv2
CRIM3
Other aliasCV-2
CV2
HGNC (Hugo) BMPER
LocusID (NCBI) 168667
Atlas_Id 52869
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 33904911 and ends at 34155872 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BMPER (7p14.3) / ADAM22 (7q21.12)GIGYF2 (2q37.1) / BMPER (7p14.3)TBC1D15 (12q21.1) / BMPER (7p14.3)
TBC1D15 12q21.1 / BMPER 7p14.3

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)BMPER   24154
Cards
Entrez_Gene (NCBI)BMPER  168667  BMP binding endothelial regulator
AliasesCRIM3; CV-2; CV2
GeneCards (Weizmann)BMPER
Ensembl hg19 (Hinxton)ENSG00000164619 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164619 [Gene_View]  chr7:33904911-34155872 [Contig_View]  BMPER [Vega]
ICGC DataPortalENSG00000164619
TCGA cBioPortalBMPER
AceView (NCBI)BMPER
Genatlas (Paris)BMPER
WikiGenes168667
SOURCE (Princeton)BMPER
Genetics Home Reference (NIH)BMPER
Genomic and cartography
GoldenPath hg38 (UCSC)BMPER  -     chr7:33904911-34155872 +  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BMPER  -     7p14.3   [Description]    (hg19-Feb_2009)
EnsemblBMPER - 7p14.3 [CytoView hg19]  BMPER - 7p14.3 [CytoView hg38]
Mapping of homologs : NCBIBMPER [Mapview hg19]  BMPER [Mapview hg38]
OMIM608022   608699   
Gene and transcription
Genbank (Entrez)AB075845 AK289963 AY324650 BC060868 BX380517
RefSeq transcript (Entrez)NM_133468
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BMPER
Cluster EST : UnigeneHs.660998 [ NCBI ]
CGAP (NCI)Hs.660998
Alternative Splicing GalleryENSG00000164619
Gene ExpressionBMPER [ NCBI-GEO ]   BMPER [ EBI - ARRAY_EXPRESS ]   BMPER [ SEEK ]   BMPER [ MEM ]
Gene Expression Viewer (FireBrowse)BMPER [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)168667
GTEX Portal (Tissue expression)BMPER
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N8U9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N8U9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N8U9
Splice isoforms : SwissVarQ8N8U9
PhosPhoSitePlusQ8N8U9
Domaine pattern : Prosite (Expaxy)VWFC_1 (PS01208)    VWFC_2 (PS50184)    VWFD (PS51233)   
Domains : Interpro (EBI)Bmper    TIL_dom    Unchr_dom_Cys-rich    VWF_dom    VWF_type-D   
Domain families : Pfam (Sanger)C8 (PF08742)    TIL (PF01826)    VWC (PF00093)    VWD (PF00094)   
Domain families : Pfam (NCBI)pfam08742    pfam01826    pfam00093    pfam00094   
Domain families : Smart (EMBL)C8 (SM00832)  VWC (SM00214)  VWD (SM00216)  
Conserved Domain (NCBI)BMPER
DMDM Disease mutations168667
Blocks (Seattle)BMPER
SuperfamilyQ8N8U9
Human Protein AtlasENSG00000164619
Peptide AtlasQ8N8U9
HPRD16368
IPIIPI00152835   IPI00916302   IPI00916708   IPI00917877   
Protein Interaction databases
DIP (DOE-UCLA)Q8N8U9
IntAct (EBI)Q8N8U9
FunCoupENSG00000164619
BioGRIDBMPER
STRING (EMBL)BMPER
ZODIACBMPER
Ontologies - Pathways
QuickGOQ8N8U9
Ontology : AmiGOureteric bud development  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  extracellular space  regulation of endothelial cell migration  negative regulation of BMP signaling pathway  endothelial cell activation  endothelial cell differentiation  inner ear development  regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of ERK1 and ERK2 cascade  
Ontology : EGO-EBIureteric bud development  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  extracellular space  regulation of endothelial cell migration  negative regulation of BMP signaling pathway  endothelial cell activation  endothelial cell differentiation  inner ear development  regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of ERK1 and ERK2 cascade  
NDEx NetworkBMPER
Atlas of Cancer Signalling NetworkBMPER
Wikipedia pathwaysBMPER
Orthology - Evolution
OrthoDB168667
GeneTree (enSembl)ENSG00000164619
Phylogenetic Trees/Animal Genes : TreeFamBMPER
HOVERGENQ8N8U9
HOGENOMQ8N8U9
Homologs : HomoloGeneBMPER
Homology/Alignments : Family Browser (UCSC)BMPER
Gene fusions - Rearrangements
Fusion : MitelmanTBC1D15/BMPER [12q21.1/7p14.3]  [t(7;12)(p14;q21)]  
Fusion: TCGATBC1D15 12q21.1 BMPER 7p14.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMPER [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMPER
dbVarBMPER
ClinVarBMPER
1000_GenomesBMPER 
Exome Variant ServerBMPER
ExAC (Exome Aggregation Consortium)BMPER (select the gene name)
Genetic variants : HAPMAP168667
Genomic Variants (DGV)BMPER [DGVbeta]
DECIPHERBMPER [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBMPER 
Mutations
ICGC Data PortalBMPER 
TCGA Data PortalBMPER 
Broad Tumor PortalBMPER
OASIS PortalBMPER [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBMPER  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBMPER
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
BioMutasearch BMPER
DgiDB (Drug Gene Interaction Database)BMPER
DoCM (Curated mutations)BMPER (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMPER (select a term)
intoGenBMPER
Cancer3DBMPER(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608022    608699   
Orphanet10893    11658   
MedgenBMPER
Genetic Testing Registry BMPER
NextProtQ8N8U9 [Medical]
TSGene168667
GENETestsBMPER
Target ValidationBMPER
Huge Navigator BMPER [HugePedia]
snp3D : Map Gene to Disease168667
BioCentury BCIQBMPER
ClinGenBMPER
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD168667
Chemical/Pharm GKB GenePA142672557
Clinical trialBMPER
Miscellaneous
canSAR (ICR)BMPER (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMPER
EVEXBMPER
GoPubMedBMPER
iHOPBMPER
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Jun 7 12:25:39 CEST 2017

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