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ITM2B (integral membrane protein 2B)

Identity

Other namesABRI
BRI
BRI2
BRICD2B
E25B
E3-16
FBD
RDGCA
imBRI2
HGNC (Hugo) ITM2B
LocusID (NCBI) 9445
Atlas_Id 41025
Location 13q14.2
Location_base_pair Starts at 48807274 and ends at 48836232 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EPB41 (1p35.3) / ITM2B (13q14.2)ITM2B (13q14.2) / ARFGEF2 (20q13.13)ITM2B (13q14.2) / CBS (21q22.3)
ITM2B (13q14.2) / ESD (13q14.2)ITM2B (13q14.2) / ITM2B (13q14.2)ITM2B (13q14.2) / MATR3 (5q31.2)
ITM2B (13q14.2) / MIR632 (17q11.2)ITM2B (13q14.2) / RB1 (13q14.2)LPAR6 (13q14.2) / ITM2B (13q14.2)
NUMA1 (11q13.4) / ITM2B (13q14.2)RB1 (13q14.2) / ITM2B (13q14.2)ITM2B 13q14.2 / ARFGEF2 20q13.13
ITM2B 13q14.2 / CBS 21q22.3ITM2B 13q14.2 / ESD 13q14.2ITM2B 13q14.2 / MATR3 5q31.2

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)ITM2B   6174
Cards
Entrez_Gene (NCBI)ITM2B  9445  integral membrane protein 2B
AliasesABRI; BRI; BRI2; BRICD2B; 
E25B; E3-16; FBD; RDGCA; imBRI2
GeneCards (Weizmann)ITM2B
Ensembl hg19 (Hinxton)ENSG00000136156 [Gene_View]  chr13:48807274-48836232 [Contig_View]  ITM2B [Vega]
Ensembl hg38 (Hinxton)ENSG00000136156 [Gene_View]  chr13:48807274-48836232 [Contig_View]  ITM2B [Vega]
ICGC DataPortalENSG00000136156
TCGA cBioPortalITM2B
AceView (NCBI)ITM2B
Genatlas (Paris)ITM2B
WikiGenes9445
SOURCE (Princeton)ITM2B
Genomic and cartography
GoldenPath hg19 (UCSC)ITM2B  -     chr13:48807274-48836232 +  13q14.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITM2B  -     13q14.2   [Description]    (hg38-Dec_2013)
EnsemblITM2B - 13q14.2 [CytoView hg19]  ITM2B - 13q14.2 [CytoView hg38]
Mapping of homologs : NCBIITM2B [Mapview hg19]  ITM2B [Mapview hg38]
OMIM117300   176500   603904   616079   
Gene and transcription
Genbank (Entrez)AF086918 AF092128 AF136973 AF152462 AF246221
RefSeq transcript (Entrez)NM_021999
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_013069 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)ITM2B
Cluster EST : UnigeneHs.643683 [ NCBI ]
CGAP (NCI)Hs.643683
Alternative Splicing GalleryENSG00000136156
Gene ExpressionITM2B [ NCBI-GEO ]   ITM2B [ EBI - ARRAY_EXPRESS ]   ITM2B [ SEEK ]   ITM2B [ MEM ]
Gene Expression Viewer (FireBrowse)ITM2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9445
GTEX Portal (Tissue expression)ITM2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y287 (Uniprot)
NextProtQ9Y287  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y287
Splice isoforms : SwissVarQ9Y287 (Swissvar)
PhosPhoSitePlusQ9Y287
Domaine pattern : Prosite (Expaxy)BRICHOS (PS50869)   
Domains : Interpro (EBI)BRICHOS_dom   
Domain families : Pfam (Sanger)BRICHOS (PF04089)   
Domain families : Pfam (NCBI)pfam04089   
Domain families : Smart (EMBL)BRICHOS (SM01039)  
DMDM Disease mutations9445
Blocks (Seattle)ITM2B
SuperfamilyQ9Y287
Human Protein AtlasENSG00000136156
Peptide AtlasQ9Y287
HPRD04878
IPIIPI00031821   IPI00477987   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y287
IntAct (EBI)Q9Y287
FunCoupENSG00000136156
BioGRIDITM2B
STRING (EMBL)ITM2B
ZODIACITM2B
Ontologies - Pathways
QuickGOQ9Y287
Ontology : AmiGObeta-amyloid binding  protein binding  ATP binding  extracellular region  extracellular space  Golgi apparatus  plasma membrane  nervous system development  endosome membrane  membrane  Golgi-associated vesicle membrane  integral component of organelle membrane  negative regulation of amyloid precursor protein biosynthetic process  intracellular membrane-bounded organelle  cellular protein metabolic process  extracellular exosome  
Ontology : EGO-EBIbeta-amyloid binding  protein binding  ATP binding  extracellular region  extracellular space  Golgi apparatus  plasma membrane  nervous system development  endosome membrane  membrane  Golgi-associated vesicle membrane  integral component of organelle membrane  negative regulation of amyloid precursor protein biosynthetic process  intracellular membrane-bounded organelle  cellular protein metabolic process  extracellular exosome  
NDEx Network
Atlas of Cancer Signalling NetworkITM2B
Wikipedia pathwaysITM2B
Orthology - Evolution
OrthoDB9445
GeneTree (enSembl)ENSG00000136156
Phylogenetic Trees/Animal Genes : TreeFamITM2B
Homologs : HomoloGeneITM2B
Homology/Alignments : Family Browser (UCSC)ITM2B
Gene fusions - Rearrangements
Fusion: TCGAITM2B 13q14.2 ARFGEF2 20q13.13 LUAD
Fusion: TCGAITM2B 13q14.2 CBS 21q22.3 PRAD
Fusion: TCGAITM2B 13q14.2 ESD 13q14.2 LUSC
Fusion: TCGAITM2B 13q14.2 MATR3 5q31.2 OV
Polymorphisms : SNP, variants
NCBI Variation ViewerITM2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITM2B
dbVarITM2B
ClinVarITM2B
1000_GenomesITM2B 
Exome Variant ServerITM2B
ExAC (Exome Aggregation Consortium)ITM2B (select the gene name)
Genetic variants : HAPMAP9445
Genomic Variants (DGV)ITM2B [DGVbeta]
Mutations
ICGC Data PortalITM2B 
TCGA Data PortalITM2B 
Broad Tumor PortalITM2B
OASIS PortalITM2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITM2B 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ITM2B
DgiDB (Drug Gene Interaction Database)ITM2B
DoCM (Curated mutations)ITM2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITM2B (select a term)
intoGenITM2B
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:48807274-48836232  ENSG00000136156
CONAN: Copy Number AnalysisITM2B 
Mutations and Diseases : HGMDITM2B
OMIM117300    176500    603904    616079   
MedgenITM2B
Genetic Testing Registry ITM2B
NextProtQ9Y287 [Medical]
TSGene9445
GENETestsITM2B
Huge Navigator ITM2B [HugePedia]
snp3D : Map Gene to Disease9445
BioCentury BCIQITM2B
ClinGenITM2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9445
Chemical/Pharm GKB GenePA29971
Clinical trialITM2B
Miscellaneous
canSAR (ICR)ITM2B (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITM2B
EVEXITM2B
GoPubMedITM2B
iHOPITM2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:07:21 CEST 2016

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