Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ITM2B (integral membrane protein 2B)

Identity

Other namesABRI
BRI
BRI2
BRICD2B
E25B
E3-16
FBD
imBRI2
HGNC (Hugo) ITM2B
LocusID (NCBI) 9445
Location 13q14.2
Location_base_pair Starts at 48807274 and ends at 48836232 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)ITM2B   6174
Cards
Entrez_Gene (NCBI)ITM2B  9445  integral membrane protein 2B
GeneCards (Weizmann)ITM2B
Ensembl (Hinxton)ENSG00000136156 [Gene_View]  chr13:48807274-48836232 [Contig_View]  ITM2B [Vega]
ICGC DataPortalENSG00000136156
cBioPortalITM2B
AceView (NCBI)ITM2B
Genatlas (Paris)ITM2B
WikiGenes9445
SOURCE (Princeton)NM_021999
Genomic and cartography
GoldenPath (UCSC)ITM2B  -  13q14.2   chr13:48807274-48836232 +  13q14.2   [Description]    (hg19-Feb_2009)
EnsemblITM2B - 13q14.2 [CytoView]
Mapping of homologs : NCBIITM2B [Mapview]
OMIM117300   176500   603904   
Gene and transcription
Genbank (Entrez)AF086918 AF092128 AF136973 AF152462 AF246221
RefSeq transcript (Entrez)NM_021999
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_013069 NT_024524 NW_001838074 NW_004929388
Consensus coding sequences : CCDS (NCBI)ITM2B
Cluster EST : UnigeneHs.643683 [ NCBI ]
CGAP (NCI)Hs.643683
Alternative Splicing : Fast-db (Paris)GSHG0008104
Alternative Splicing GalleryENSG00000136156
Gene ExpressionITM2B [ NCBI-GEO ]     ITM2B [ SEEK ]   ITM2B [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y287 (Uniprot)
NextProtQ9Y287  [Medical]
With graphics : InterProQ9Y287
Splice isoforms : SwissVarQ9Y287 (Swissvar)
Domaine pattern : Prosite (Expaxy)BRICHOS (PS50869)   
Domains : Interpro (EBI)BRICHOS_dom [organisation]  
Related proteins : CluSTrQ9Y287
Domain families : Pfam (Sanger)BRICHOS (PF04089)   
Domain families : Pfam (NCBI)pfam04089   
Domain families : Smart (EMBL)BRICHOS (SM01039)  
DMDM Disease mutations9445
Blocks (Seattle)Q9Y287
Human Protein AtlasENSG00000136156 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9Y287
HPRD04878
IPIIPI00031821   IPI00477987   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y287
IntAct (EBI)Q9Y287
FunCoupENSG00000136156
BioGRIDITM2B
InParanoidQ9Y287
Interologous Interaction database Q9Y287
IntegromeDBITM2B
STRING (EMBL)ITM2B
Ontologies - Pathways
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  extracellular vesicular exosome  extrinsic apoptotic signaling pathway in absence of ligand  
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  extracellular vesicular exosome  extrinsic apoptotic signaling pathway in absence of ligand  
Protein Interaction DatabaseITM2B
Wikipedia pathwaysITM2B
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ITM2B
snp3D : Map Gene to Disease9445
SNP (GeneSNP Utah)ITM2B
SNP : HGBaseITM2B
Genetic variants : HAPMAPITM2B
Exome VariantITM2B
1000_GenomesITM2B 
ICGC programENSG00000136156 
Somatic Mutations in Cancer : COSMICITM2B 
CONAN: Copy Number AnalysisITM2B 
Mutations and Diseases : HGMDITM2B
Mutations and Diseases : intOGenITM2B
Genomic VariantsITM2B  ITM2B [DGVbeta]
dbVarITM2B
ClinVarITM2B
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM117300    176500    603904   
MedgenITM2B
GENETestsITM2B
Disease Genetic AssociationITM2B
Huge Navigator ITM2B [HugePedia]  ITM2B [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneITM2B
Homology/Alignments : Family Browser (UCSC)ITM2B
Phylogenetic Trees/Animal Genes : TreeFamITM2B
Chemical/Protein Interactions : CTD9445
Chemical/Pharm GKB GenePA29971
Clinical trialITM2B
Cancer Resource (Charite)ENSG00000136156
Other databases
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
CoreMineITM2B
iHOPITM2B
OncoSearchITM2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:51:23 CEST 2014

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