Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ITM2C (integral membrane protein 2C)

Identity

Alias (NCBI)BRI3
BRICD2C
E25
E25C
ITM3
HGNC (Hugo) ITM2C
HGNC Alias symbBRI3
E25
hRPC.1050_D_4
ITM3
BRICD2C
HGNC Alias nameBRICHOS domain containing 2C
LocusID (NCBI) 81618
Atlas_Id 64693
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 230864895 and ends at 230879254 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)
ITM2C (2q37.1) / CAPZB (1p36.13)ITM2C (2q37.1) / NUMA1 (11q13.4)ITM2C (2q37.1) / OPA3 (19q13.32)
ITM2C (2q37.1) / RAP1GAP2 (17p13.3)ITM2C (2q37.1) / SEPT9 (17q25.2)ITM2C (2q37.1) / SLC2A5 (1p36.23)
SP140L (2q37.1) / ITM2C (2q37.1)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;17)(q37;q25) ITM2C/SEPT9

External links

Nomenclature
HGNC (Hugo)ITM2C   6175
Cards
Entrez_Gene (NCBI)ITM2C    integral membrane protein 2C
AliasesBRI3; BRICD2C; E25; E25C; 
ITM3
GeneCards (Weizmann)ITM2C
Ensembl hg19 (Hinxton)ENSG00000135916 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135916 [Gene_View]  ENSG00000135916 [Sequence]  chr2:230864895-230879254 [Contig_View]  ITM2C [Vega]
ICGC DataPortalENSG00000135916
TCGA cBioPortalITM2C
AceView (NCBI)ITM2C
Genatlas (Paris)ITM2C
SOURCE (Princeton)ITM2C
Genetics Home Reference (NIH)ITM2C
Genomic and cartography
GoldenPath hg38 (UCSC)ITM2C  -     chr2:230864895-230879254 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITM2C  -     2q37.1   [Description]    (hg19-Feb_2009)
GoldenPathITM2C - 2q37.1 [CytoView hg19]  ITM2C - 2q37.1 [CytoView hg38]
ImmunoBaseENSG00000135916
genome Data Viewer NCBIITM2C [Mapview hg19]  
OMIM609554   
Gene and transcription
Genbank (Entrez)AB003629 AF271781 AF272043 AK056321 AK075361
RefSeq transcript (Entrez)NM_001012514 NM_001012516 NM_001287240 NM_001287241 NM_030926
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITM2C
Alternative Splicing GalleryENSG00000135916
Gene ExpressionITM2C [ NCBI-GEO ]   ITM2C [ EBI - ARRAY_EXPRESS ]   ITM2C [ SEEK ]   ITM2C [ MEM ]
Gene Expression Viewer (FireBrowse)ITM2C [ Firebrowse - Broad ]
GenevisibleExpression of ITM2C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81618
GTEX Portal (Tissue expression)ITM2C
Human Protein AtlasENSG00000135916-ITM2C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQX7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQX7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQX7
Splice isoforms : SwissVarQ9NQX7
PhosPhoSitePlusQ9NQX7
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)ITM2C
Blocks (Seattle)ITM2C
SuperfamilyQ9NQX7
Human Protein Atlas [tissue]ENSG00000135916-ITM2C [tissue]
Peptide AtlasQ9NQX7
HPRD17167
IPIIPI00016014   IPI00384327   IPI00290583   IPI00910452   IPI00386864   IPI00916964   IPI01015764   IPI01015042   IPI00917454   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQX7
IntAct (EBI)Q9NQX7
BioGRIDITM2C
STRING (EMBL)ITM2C
ZODIACITM2C
Ontologies - Pathways
QuickGOQ9NQX7
Ontology : AmiGOamyloid-beta binding  amyloid-beta binding  protein binding  ATP binding  lysosome  lysosomal membrane  Golgi apparatus  Golgi apparatus  plasma membrane  plasma membrane  negative regulation of neuron projection development  integral component of membrane  neuron differentiation  negative regulation of amyloid precursor protein biosynthetic process  perinuclear region of cytoplasm  extracellular exosome  positive regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIamyloid-beta binding  amyloid-beta binding  protein binding  ATP binding  lysosome  lysosomal membrane  Golgi apparatus  Golgi apparatus  plasma membrane  plasma membrane  negative regulation of neuron projection development  integral component of membrane  neuron differentiation  negative regulation of amyloid precursor protein biosynthetic process  perinuclear region of cytoplasm  extracellular exosome  positive regulation of extrinsic apoptotic signaling pathway  
NDEx NetworkITM2C
Atlas of Cancer Signalling NetworkITM2C
Wikipedia pathwaysITM2C
Orthology - Evolution
OrthoDB81618
GeneTree (enSembl)ENSG00000135916
Phylogenetic Trees/Animal Genes : TreeFamITM2C
HOGENOMQ9NQX7
Homologs : HomoloGeneITM2C
Homology/Alignments : Family Browser (UCSC)ITM2C
Gene fusions - Rearrangements
Fusion : QuiverITM2C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITM2C [hg38]
dbVarITM2C
ClinVarITM2C
MonarchITM2C
1000_GenomesITM2C 
Exome Variant ServerITM2C
GNOMAD BrowserENSG00000135916
Varsome BrowserITM2C
Genomic Variants (DGV)ITM2C [DGVbeta]
DECIPHERITM2C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITM2C 
Mutations
ICGC Data PortalITM2C 
TCGA Data PortalITM2C 
Broad Tumor PortalITM2C
OASIS PortalITM2C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITM2C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITM2C
Mutations and Diseases : HGMDITM2C
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 ITM2C
DgiDB (Drug Gene Interaction Database)ITM2C
DoCM (Curated mutations)ITM2C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITM2C (select a term)
intoGenITM2C
Cancer3DITM2C(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609554   
Orphanet
DisGeNETITM2C
MedgenITM2C
Genetic Testing Registry ITM2C
NextProtQ9NQX7 [Medical]
GENETestsITM2C
Target ValidationITM2C
Huge Navigator ITM2C [HugePedia]
ClinGenITM2C
Clinical trials, drugs, therapy
MyCancerGenomeITM2C
Protein Interactions : CTD
Pharm GKB GenePA29972
Clinical trialITM2C
Miscellaneous
canSAR (ICR)ITM2C (select the gene name)
HarmonizomeITM2C
DataMed IndexITM2C
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITM2C
EVEXITM2C
GoPubMedITM2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:58:08 CET 2020
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