Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ITGB1BP2 (integrin beta 1 binding protein (melusin) 2)

Identity

Alias_namesintegrin beta 1 binding protein 2
Alias_symbol (synonym)CHORDC3
Other aliasITGB1BP
MELUSIN
MSTP015
HGNC (Hugo) ITGB1BP2
LocusID (NCBI) 26548
Atlas_Id 64686
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 70521598 and ends at 70525221 bp from pter ( according to hg19-Feb_2009)

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)ITGB1BP2   6154
Cards
Entrez_Gene (NCBI)ITGB1BP2  26548  integrin beta 1 binding protein (melusin) 2
AliasesCHORDC3; ITGB1BP; MELUSIN; MSTP015
GeneCards (Weizmann)ITGB1BP2
Ensembl hg19 (Hinxton)ENSG00000147166 [Gene_View]  chrX:70521598-70525221 [Contig_View]  ITGB1BP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147166 [Gene_View]  chrX:70521598-70525221 [Contig_View]  ITGB1BP2 [Vega]
ICGC DataPortalENSG00000147166
TCGA cBioPortalITGB1BP2
AceView (NCBI)ITGB1BP2
Genatlas (Paris)ITGB1BP2
WikiGenes26548
SOURCE (Princeton)ITGB1BP2
Genetics Home Reference (NIH)ITGB1BP2
Genomic and cartography
GoldenPath hg19 (UCSC)ITGB1BP2  -     chrX:70521598-70525221 +  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITGB1BP2  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblITGB1BP2 - Xq13.1 [CytoView hg19]  ITGB1BP2 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIITGB1BP2 [Mapview hg19]  ITGB1BP2 [Mapview hg38]
OMIM300332   
Gene and transcription
Genbank (Entrez)AF110225 AF140690 BC108901 BP372847 DA895605
RefSeq transcript (Entrez)NM_001303277 NM_012278
RefSeq genomic (Entrez)NC_000023 NC_018934 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)ITGB1BP2
Cluster EST : UnigeneHs.109999 [ NCBI ]
CGAP (NCI)Hs.109999
Alternative Splicing GalleryENSG00000147166
Gene ExpressionITGB1BP2 [ NCBI-GEO ]   ITGB1BP2 [ EBI - ARRAY_EXPRESS ]   ITGB1BP2 [ SEEK ]   ITGB1BP2 [ MEM ]
Gene Expression Viewer (FireBrowse)ITGB1BP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26548
GTEX Portal (Tissue expression)ITGB1BP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKP3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKP3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKP3
Splice isoforms : SwissVarQ9UKP3
PhosPhoSitePlusQ9UKP3
Domaine pattern : Prosite (Expaxy)CHORD (PS51401)    CS (PS51203)   
Domains : Interpro (EBI)CHORD    CS_dom    HSP20-like_chaperone   
Domain families : Pfam (Sanger)CHORD (PF04968)    CS (PF04969)   
Domain families : Pfam (NCBI)pfam04968    pfam04969   
Conserved Domain (NCBI)ITGB1BP2
DMDM Disease mutations26548
Blocks (Seattle)ITGB1BP2
SuperfamilyQ9UKP3
Human Protein AtlasENSG00000147166
Peptide AtlasQ9UKP3
HPRD02271
IPIIPI00017513   IPI01014111   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKP3
IntAct (EBI)Q9UKP3
FunCoupENSG00000147166
BioGRIDITGB1BP2
STRING (EMBL)ITGB1BP2
ZODIACITGB1BP2
Ontologies - Pathways
QuickGOQ9UKP3
Ontology : AmiGOintegrin binding  calcium ion binding  protein binding  signal transduction  muscle organ development  zinc ion binding  SH3 domain binding  Z disc  
Ontology : EGO-EBIintegrin binding  calcium ion binding  protein binding  signal transduction  muscle organ development  zinc ion binding  SH3 domain binding  Z disc  
NDEx NetworkITGB1BP2
Atlas of Cancer Signalling NetworkITGB1BP2
Wikipedia pathwaysITGB1BP2
Orthology - Evolution
OrthoDB26548
GeneTree (enSembl)ENSG00000147166
Phylogenetic Trees/Animal Genes : TreeFamITGB1BP2
HOVERGENQ9UKP3
HOGENOMQ9UKP3
Homologs : HomoloGeneITGB1BP2
Homology/Alignments : Family Browser (UCSC)ITGB1BP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITGB1BP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITGB1BP2
dbVarITGB1BP2
ClinVarITGB1BP2
1000_GenomesITGB1BP2 
Exome Variant ServerITGB1BP2
ExAC (Exome Aggregation Consortium)ITGB1BP2 (select the gene name)
Genetic variants : HAPMAP26548
Genomic Variants (DGV)ITGB1BP2 [DGVbeta]
DECIPHER (Syndromes)X:70521598-70525221  ENSG00000147166
CONAN: Copy Number AnalysisITGB1BP2 
Mutations
ICGC Data PortalITGB1BP2 
TCGA Data PortalITGB1BP2 
Broad Tumor PortalITGB1BP2
OASIS PortalITGB1BP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITGB1BP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITGB1BP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ITGB1BP2
DgiDB (Drug Gene Interaction Database)ITGB1BP2
DoCM (Curated mutations)ITGB1BP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITGB1BP2 (select a term)
intoGenITGB1BP2
Cancer3DITGB1BP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300332   
Orphanet
MedgenITGB1BP2
Genetic Testing Registry ITGB1BP2
NextProtQ9UKP3 [Medical]
TSGene26548
GENETestsITGB1BP2
Huge Navigator ITGB1BP2 [HugePedia]
snp3D : Map Gene to Disease26548
BioCentury BCIQITGB1BP2
ClinGenITGB1BP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26548
Chemical/Pharm GKB GenePA29954
Clinical trialITGB1BP2
Miscellaneous
canSAR (ICR)ITGB1BP2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITGB1BP2
EVEXITGB1BP2
GoPubMedITGB1BP2
iHOPITGB1BP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:09:06 CET 2017

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