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ITGB3BP (integrin subunit beta 3 binding protein)

Identity

Alias_namesintegrin beta 3 binding protein (beta3-endonexin)
Alias_symbol (synonym)NRIF3
HSU37139
TAP20
CENPR
Other aliasCENP-R
HGNC (Hugo) ITGB3BP
LocusID (NCBI) 23421
Atlas_Id 45622
Location 1p31.3  [Link to chromosome band 1p31]
Location_base_pair Starts at 63440770 and ends at 63523273 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRRC75A-AS1 (17p11.2) / ITGB3BP (1p31.3)

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)ITGB3BP   6157
Cards
Entrez_Gene (NCBI)ITGB3BP  23421  integrin subunit beta 3 binding protein
AliasesCENP-R; CENPR; HSU37139; NRIF3; 
TAP20
GeneCards (Weizmann)ITGB3BP
Ensembl hg19 (Hinxton)ENSG00000142856 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142856 [Gene_View]  chr1:63440770-63523273 [Contig_View]  ITGB3BP [Vega]
ICGC DataPortalENSG00000142856
TCGA cBioPortalITGB3BP
AceView (NCBI)ITGB3BP
Genatlas (Paris)ITGB3BP
WikiGenes23421
SOURCE (Princeton)ITGB3BP
Genetics Home Reference (NIH)ITGB3BP
Genomic and cartography
GoldenPath hg38 (UCSC)ITGB3BP  -     chr1:63440770-63523273 -  1p31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITGB3BP  -     1p31.3   [Description]    (hg19-Feb_2009)
EnsemblITGB3BP - 1p31.3 [CytoView hg19]  ITGB3BP - 1p31.3 [CytoView hg38]
Mapping of homologs : NCBIITGB3BP [Mapview hg19]  ITGB3BP [Mapview hg38]
OMIM605494   
Gene and transcription
Genbank (Entrez)AA873717 AF175306 AK309622 AK312944 BC009929
RefSeq transcript (Entrez)NM_001206739 NM_001347145 NM_001347147 NM_001347148 NM_014288
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITGB3BP
Cluster EST : UnigeneHs.166539 [ NCBI ]
CGAP (NCI)Hs.166539
Alternative Splicing GalleryENSG00000142856
Gene ExpressionITGB3BP [ NCBI-GEO ]   ITGB3BP [ EBI - ARRAY_EXPRESS ]   ITGB3BP [ SEEK ]   ITGB3BP [ MEM ]
Gene Expression Viewer (FireBrowse)ITGB3BP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23421
GTEX Portal (Tissue expression)ITGB3BP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13352   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13352  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13352
Splice isoforms : SwissVarQ13352
PhosPhoSitePlusQ13352
Domains : Interpro (EBI)CENP-R   
Domain families : Pfam (Sanger)CENP-R (PF06729)   
Domain families : Pfam (NCBI)pfam06729   
Conserved Domain (NCBI)ITGB3BP
DMDM Disease mutations23421
Blocks (Seattle)ITGB3BP
SuperfamilyQ13352
Human Protein AtlasENSG00000142856
Peptide AtlasQ13352
HPRD09267
IPIIPI00439184   IPI00439185   IPI00439186   IPI00439187   IPI00555934   
Protein Interaction databases
DIP (DOE-UCLA)Q13352
IntAct (EBI)Q13352
FunCoupENSG00000142856
BioGRIDITGB3BP
STRING (EMBL)ITGB3BP
ZODIACITGB3BP
Ontologies - Pathways
QuickGOQ13352
Ontology : AmiGOcondensed chromosome kinetochore  signal transducer activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  sister chromatid cohesion  cell adhesion  signal transduction  protein C-terminus binding  membrane  CENP-A containing nucleosome assembly  positive regulation of apoptotic process  cell division  
Ontology : EGO-EBIcondensed chromosome kinetochore  signal transducer activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  sister chromatid cohesion  cell adhesion  signal transduction  protein C-terminus binding  membrane  CENP-A containing nucleosome assembly  positive regulation of apoptotic process  cell division  
NDEx NetworkITGB3BP
Atlas of Cancer Signalling NetworkITGB3BP
Wikipedia pathwaysITGB3BP
Orthology - Evolution
OrthoDB23421
GeneTree (enSembl)ENSG00000142856
Phylogenetic Trees/Animal Genes : TreeFamITGB3BP
HOVERGENQ13352
HOGENOMQ13352
Homologs : HomoloGeneITGB3BP
Homology/Alignments : Family Browser (UCSC)ITGB3BP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITGB3BP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITGB3BP
dbVarITGB3BP
ClinVarITGB3BP
1000_GenomesITGB3BP 
Exome Variant ServerITGB3BP
ExAC (Exome Aggregation Consortium)ITGB3BP (select the gene name)
Genetic variants : HAPMAP23421
Genomic Variants (DGV)ITGB3BP [DGVbeta]
DECIPHERITGB3BP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITGB3BP 
Mutations
ICGC Data PortalITGB3BP 
TCGA Data PortalITGB3BP 
Broad Tumor PortalITGB3BP
OASIS PortalITGB3BP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITGB3BP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITGB3BP
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 ITGB3BP
DgiDB (Drug Gene Interaction Database)ITGB3BP
DoCM (Curated mutations)ITGB3BP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITGB3BP (select a term)
intoGenITGB3BP
Cancer3DITGB3BP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605494   
Orphanet
MedgenITGB3BP
Genetic Testing Registry ITGB3BP
NextProtQ13352 [Medical]
TSGene23421
GENETestsITGB3BP
Target ValidationITGB3BP
Huge Navigator ITGB3BP [HugePedia]
snp3D : Map Gene to Disease23421
BioCentury BCIQITGB3BP
ClinGenITGB3BP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23421
Chemical/Pharm GKB GenePA29956
Clinical trialITGB3BP
Miscellaneous
canSAR (ICR)ITGB3BP (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITGB3BP
EVEXITGB3BP
GoPubMedITGB3BP
iHOPITGB3BP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:04:17 CEST 2017

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