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ITM2B (integral membrane protein 2B)

Identity

Alias (NCBI)ABRI
BRI
BRI2
BRICD2B
E25B
E3-16
FBD
RDGCA
imBRI2
HGNC (Hugo) ITM2B
HGNC Alias symbBRI
E25B
E3-16
BRICD2B
BRI2
HGNC Alias nameBRICHOS domain containing 2B
LocusID (NCBI) 9445
Atlas_Id 41025
Location 13q14.2  [Link to chromosome band 13q14]
Location_base_pair Starts at 48233206 and ends at 48270354 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(13;13)(q14;q14) ITM2B/RB1
t(13;13)(q14;q14) LPAR6/ITM2B


External links

Nomenclature
HGNC (Hugo)ITM2B   6174
Cards
Entrez_Gene (NCBI)ITM2B    integral membrane protein 2B
AliasesABRI; BRI; BRI2; BRICD2B; 
E25B; E3-16; FBD; RDGCA; imBRI2
GeneCards (Weizmann)ITM2B
Ensembl hg19 (Hinxton)ENSG00000136156 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136156 [Gene_View]  ENSG00000136156 [Sequence]  chr13:48233206-48270354 [Contig_View]  ITM2B [Vega]
ICGC DataPortalENSG00000136156
TCGA cBioPortalITM2B
AceView (NCBI)ITM2B
Genatlas (Paris)ITM2B
SOURCE (Princeton)ITM2B
Genetics Home Reference (NIH)ITM2B
Genomic and cartography
GoldenPath hg38 (UCSC)ITM2B  -     chr13:48233206-48270354 +  13q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITM2B  -     13q14.2   [Description]    (hg19-Feb_2009)
GoldenPathITM2B - 13q14.2 [CytoView hg19]  ITM2B - 13q14.2 [CytoView hg38]
ImmunoBaseENSG00000136156
genome Data Viewer NCBIITM2B [Mapview hg19]  
OMIM117300   176500   603904   616079   
Gene and transcription
Genbank (Entrez)AF086918 AF092128 AF136973 AF152462 AF246221
RefSeq transcript (Entrez)NM_021999
Consensus coding sequences : CCDS (NCBI)ITM2B
Alternative Splicing GalleryENSG00000136156
Gene ExpressionITM2B [ NCBI-GEO ]   ITM2B [ EBI - ARRAY_EXPRESS ]   ITM2B [ SEEK ]   ITM2B [ MEM ]
Gene Expression Viewer (FireBrowse)ITM2B [ Firebrowse - Broad ]
GenevisibleExpression of ITM2B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9445
GTEX Portal (Tissue expression)ITM2B
Human Protein AtlasENSG00000136156-ITM2B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y287   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y287  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y287
PhosPhoSitePlusQ9Y287
Domaine pattern : Prosite (Expaxy)BRICHOS (PS50869)   
Domains : Interpro (EBI)BRICHOS_dom    ITM2   
Domain families : Pfam (Sanger)BRICHOS (PF04089)   
Domain families : Pfam (NCBI)pfam04089   
Domain families : Smart (EMBL)BRICHOS (SM01039)  
Conserved Domain (NCBI)ITM2B
SuperfamilyQ9Y287
AlphaFold pdb e-kbQ9Y287   
Human Protein Atlas [tissue]ENSG00000136156-ITM2B [tissue]
HPRD04878
Protein Interaction databases
DIP (DOE-UCLA)Q9Y287
IntAct (EBI)Q9Y287
BioGRIDITM2B
STRING (EMBL)ITM2B
ZODIACITM2B
Ontologies - Pathways
QuickGOQ9Y287
Ontology : AmiGOGolgi membrane  amyloid-beta binding  amyloid-beta binding  protein binding  ATP binding  extracellular region  extracellular space  Golgi apparatus  Golgi apparatus  plasma membrane  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  negative regulation of amyloid precursor protein biosynthetic process  intracellular membrane-bounded organelle  extracellular exosome  amyloid fibril formation  
Ontology : EGO-EBIGolgi membrane  amyloid-beta binding  amyloid-beta binding  protein binding  ATP binding  extracellular region  extracellular space  Golgi apparatus  Golgi apparatus  plasma membrane  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  negative regulation of amyloid precursor protein biosynthetic process  intracellular membrane-bounded organelle  extracellular exosome  amyloid fibril formation  
NDEx NetworkITM2B
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 : MitelmanITM2B/ARFGEF2 [13q14.2/20q13.13]  
Fusion : MitelmanITM2B/CBS [13q14.2/21q22.3]  
Fusion : MitelmanITM2B/ESD [13q14.2/13q14.2]  
Fusion : MitelmanITM2B/MATR3 [13q14.2/5q31.2]  
Fusion : MitelmanITM2B/RB1 [13q14.2/13q14.2]  
Fusion : MitelmanLPAR6/ITM2B [13q14.2/13q14.2]  
Fusion : MitelmanRB1/ITM2B [13q14.2/13q14.2]  
Fusion PortalITM2B 13q14.2 ARFGEF2 20q13.13 LUAD
Fusion PortalITM2B 13q14.2 CBS 21q22.3 PRAD
Fusion PortalITM2B 13q14.2 ESD 13q14.2 LUSC
Fusion PortalITM2B 13q14.2 MATR3 5q31.2 OV
Fusion : QuiverITM2B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITM2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITM2B
dbVarITM2B
ClinVarITM2B
MonarchITM2B
1000_GenomesITM2B 
Exome Variant ServerITM2B
GNOMAD BrowserENSG00000136156
Varsome BrowserITM2B
Genomic Variants (DGV)ITM2B [DGVbeta]
DECIPHERITM2B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITM2B 
Mutations
ICGC Data PortalITM2B 
TCGA Data PortalITM2B 
Broad Tumor PortalITM2B
OASIS PortalITM2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITM2B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITM2B
Mutations and Diseases : HGMDITM2B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
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)
Cancer3DITM2B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM117300    176500    603904    616079   
Orphanet22701    12901    12900   
DisGeNETITM2B
MedgenITM2B
Genetic Testing Registry ITM2B
NextProtQ9Y287 [Medical]
GENETestsITM2B
Target ValidationITM2B
Huge Navigator ITM2B [HugePedia]
ClinGenITM2B
Clinical trials, drugs, therapy
MyCancerGenomeITM2B
Protein Interactions : CTDITM2B
Pharm GKB GenePA29971
PharosQ9Y287
Clinical trialITM2B
Miscellaneous
canSAR (ICR)ITM2B
HarmonizomeITM2B
DataMed IndexITM2B
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXITM2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Sep 15 22:19:14 CEST 2021

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