Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ITM2A (integral membrane protein 2A)

Identity

Alias_symbol (synonym)BRICD2A
E25A
Other alias
HGNC (Hugo) ITM2A
LocusID (NCBI) 9452
Atlas_Id 55872
Location Xq21.1  [Link to chromosome band Xq21]
Location_base_pair Starts at 79360384 and ends at 79367552 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)
ITM2A (Xq21.1) / LUC7L (16p13.3)

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)ITM2A   6173
Cards
Entrez_Gene (NCBI)ITM2A  9452  integral membrane protein 2A
AliasesBRICD2A; E25A
GeneCards (Weizmann)ITM2A
Ensembl hg19 (Hinxton)ENSG00000078596 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078596 [Gene_View]  ENSG00000078596 [Sequence]  chrX:79360384-79367552 [Contig_View]  ITM2A [Vega]
ICGC DataPortalENSG00000078596
TCGA cBioPortalITM2A
AceView (NCBI)ITM2A
Genatlas (Paris)ITM2A
WikiGenes9452
SOURCE (Princeton)ITM2A
Genetics Home Reference (NIH)ITM2A
Genomic and cartography
GoldenPath hg38 (UCSC)ITM2A  -     chrX:79360384-79367552 -  Xq21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITM2A  -     Xq21.1   [Description]    (hg19-Feb_2009)
GoldenPathITM2A - Xq21.1 [CytoView hg19]  ITM2A - Xq21.1 [CytoView hg38]
ImmunoBaseENSG00000078596
Mapping of homologs : NCBIITM2A [Mapview hg19]  ITM2A [Mapview hg38]
OMIM300222   
Gene and transcription
Genbank (Entrez)AB209310 AF038953 AK223327 AK303238 AK313154
RefSeq transcript (Entrez)NM_001171581 NM_004867
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITM2A
Cluster EST : UnigeneHs.694944 [ NCBI ]
CGAP (NCI)Hs.694944
Alternative Splicing GalleryENSG00000078596
Gene ExpressionITM2A [ NCBI-GEO ]   ITM2A [ EBI - ARRAY_EXPRESS ]   ITM2A [ SEEK ]   ITM2A [ MEM ]
Gene Expression Viewer (FireBrowse)ITM2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9452
GTEX Portal (Tissue expression)ITM2A
Human Protein AtlasENSG00000078596-ITM2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43736   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43736  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43736
Splice isoforms : SwissVarO43736
PhosPhoSitePlusO43736
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)  
Conserved Domain (NCBI)ITM2A
DMDM Disease mutations9452
Blocks (Seattle)ITM2A
SuperfamilyO43736
Human Protein Atlas [tissue]ENSG00000078596-ITM2A [tissue]
Peptide AtlasO43736
HPRD02200
IPIIPI00013888   IPI00930329   IPI00910510   
Protein Interaction databases
DIP (DOE-UCLA)O43736
IntAct (EBI)O43736
FunCoupENSG00000078596
BioGRIDITM2A
STRING (EMBL)ITM2A
ZODIACITM2A
Ontologies - Pathways
QuickGOO43736
Ontology : AmiGOamyloid-beta binding  plasma cell differentiation  immunoglobulin production  protein binding  Golgi apparatus  plasma membrane  integral component of membrane  negative regulation of amyloid precursor protein biosynthetic process  
Ontology : EGO-EBIamyloid-beta binding  plasma cell differentiation  immunoglobulin production  protein binding  Golgi apparatus  plasma membrane  integral component of membrane  negative regulation of amyloid precursor protein biosynthetic process  
NDEx NetworkITM2A
Atlas of Cancer Signalling NetworkITM2A
Wikipedia pathwaysITM2A
Orthology - Evolution
OrthoDB9452
GeneTree (enSembl)ENSG00000078596
Phylogenetic Trees/Animal Genes : TreeFamITM2A
HOGENOMO43736
Homologs : HomoloGeneITM2A
Homology/Alignments : Family Browser (UCSC)ITM2A
Gene fusions - Rearrangements
Fusion : QuiverITM2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITM2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITM2A
dbVarITM2A
ClinVarITM2A
1000_GenomesITM2A 
Exome Variant ServerITM2A
ExAC (Exome Aggregation Consortium)ENSG00000078596
GNOMAD BrowserENSG00000078596
Varsome BrowserITM2A
Genetic variants : HAPMAP9452
Genomic Variants (DGV)ITM2A [DGVbeta]
DECIPHERITM2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITM2A 
Mutations
ICGC Data PortalITM2A 
TCGA Data PortalITM2A 
Broad Tumor PortalITM2A
OASIS PortalITM2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITM2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITM2A
Mutations and Diseases : HGMDITM2A
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch ITM2A
DgiDB (Drug Gene Interaction Database)ITM2A
DoCM (Curated mutations)ITM2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITM2A (select a term)
intoGenITM2A
Cancer3DITM2A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300222   
Orphanet
DisGeNETITM2A
MedgenITM2A
Genetic Testing Registry ITM2A
NextProtO43736 [Medical]
TSGene9452
GENETestsITM2A
Target ValidationITM2A
Huge Navigator ITM2A [HugePedia]
snp3D : Map Gene to Disease9452
BioCentury BCIQITM2A
ClinGenITM2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9452
Chemical/Pharm GKB GenePA29970
Clinical trialITM2A
Miscellaneous
canSAR (ICR)ITM2A (select the gene name)
DataMed IndexITM2A
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITM2A
EVEXITM2A
GoPubMedITM2A
iHOPITM2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:48:57 CET 2019
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