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MATR3 (matrin 3)

Identity

Alias_namesMPD2
myopathy
Alias_symbol (synonym)KIAA0723
MGC9105
VCPDM
Other aliasALS21
HGNC (Hugo) MATR3
LocusID (NCBI) 9782
Atlas_Id 54443
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 139273752 and ends at 139331677 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDK7 (5q13.2) / MATR3 (5q31.2)ITM2B (13q14.2) / MATR3 (5q31.2)MATR3 (5q31.2) / ALB (4q13.3)
MATR3 (5q31.2) / CTNNA1 (5q31.2)MATR3 (5q31.2) / HSPA4 (5q31.1)MATR3 (5q31.2) / KDM3B (5q31.2)
MATR3 (5q31.2) / PAIP2 (5q31.2)MATR3 (5q31.2) / PCDHA2 (5q31.3)MATR3 (5q31.2) / PRKCH (14q23.1)
SNHG4 (5q31.2) / MATR3 (5q31.2)TF (3q22.1) / MATR3 (5q31.2)UBE2D2 (5q31.2) / MATR3 (5q31.2)
VPS50 (7q21.3) / MATR3 (5q31.2)ITM2B 13q14.2 / MATR3 5q31.2MATR3 5q31.2 / CTNNA1 5q31.2
MATR3 5q31.2 / KDM3B 5q31.2MATR3 5q31.2 / PCDHA2 5q31.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)MATR3   6912
Cards
Entrez_Gene (NCBI)MATR3  9782  matrin 3
AliasesALS21; MPD2; VCPDM
GeneCards (Weizmann)MATR3
Ensembl hg19 (Hinxton)ENSG00000015479 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000015479 [Gene_View]  chr5:139273752-139331677 [Contig_View]  MATR3 [Vega]
ICGC DataPortalENSG00000015479
TCGA cBioPortalMATR3
AceView (NCBI)MATR3
Genatlas (Paris)MATR3
WikiGenes9782
SOURCE (Princeton)MATR3
Genetics Home Reference (NIH)MATR3
Genomic and cartography
GoldenPath hg38 (UCSC)MATR3  -     chr5:139273752-139331677 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MATR3  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblMATR3 - 5q31.2 [CytoView hg19]  MATR3 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIMATR3 [Mapview hg19]  MATR3 [Mapview hg38]
OMIM164015   606070   
Gene and transcription
Genbank (Entrez)AA233906 AB018266 AF117236 AJ224166 AJ224169
RefSeq transcript (Entrez)NM_001194954 NM_001194955 NM_001194956 NM_001282278 NM_018834 NM_199189
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MATR3
Cluster EST : UnigeneHs.595110 [ NCBI ]
CGAP (NCI)Hs.595110
Alternative Splicing GalleryENSG00000015479
Gene ExpressionMATR3 [ NCBI-GEO ]   MATR3 [ EBI - ARRAY_EXPRESS ]   MATR3 [ SEEK ]   MATR3 [ MEM ]
Gene Expression Viewer (FireBrowse)MATR3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9782
GTEX Portal (Tissue expression)MATR3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43243   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43243  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43243
Splice isoforms : SwissVarP43243
PhosPhoSitePlusP43243
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    ZF_MATRIN (PS50171)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom    Znf_C2H2_matrin    Znf_U1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RRM (SM00360)  ZnF_U1 (SM00451)  
Conserved Domain (NCBI)MATR3
DMDM Disease mutations9782
Blocks (Seattle)MATR3
SuperfamilyP43243
Human Protein AtlasENSG00000015479
Peptide AtlasP43243
HPRD05270
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)P43243
IntAct (EBI)P43243
FunCoupENSG00000015479
BioGRIDMATR3
STRING (EMBL)MATR3
ZODIACMATR3
Ontologies - Pathways
QuickGOP43243
Ontology : AmiGORNA binding  structural molecule activity  protein binding  nuclear inner membrane  zinc ion binding  posttranscriptional regulation of gene expression  membrane  nuclear matrix  
Ontology : EGO-EBIRNA binding  structural molecule activity  protein binding  nuclear inner membrane  zinc ion binding  posttranscriptional regulation of gene expression  membrane  nuclear matrix  
Pathways : BIOCARTARNA polymerase III transcription [Genes]   
NDEx NetworkMATR3
Atlas of Cancer Signalling NetworkMATR3
Wikipedia pathwaysMATR3
Orthology - Evolution
OrthoDB9782
GeneTree (enSembl)ENSG00000015479
Phylogenetic Trees/Animal Genes : TreeFamMATR3
HOVERGENP43243
HOGENOMP43243
Homologs : HomoloGeneMATR3
Homology/Alignments : Family Browser (UCSC)MATR3
Gene fusions - Rearrangements
Fusion : MitelmanITM2B/MATR3 [13q14.2/5q31.2]  [t(5;13)(q31;q14)]  
Fusion : MitelmanMATR3/CTNNA1 [5q31.2/5q31.2]  [t(5;5)(q31;q31)]  
Fusion : MitelmanMATR3/KDM3B [5q31.2/5q31.2]  [t(5;5)(q31;q31)]  
Fusion : MitelmanMATR3/PCDHA2 [5q31.2/5q31.3]  [t(5;5)(q31;q31)]  
Fusion : MitelmanUBE2D2/MATR3 [5q31.2/5q31.2]  [t(5;5)(q31;q31)]  
Fusion: TCGAITM2B 13q14.2 MATR3 5q31.2 OV
Fusion: TCGAMATR3 5q31.2 CTNNA1 5q31.2 BRCA
Fusion: TCGAMATR3 5q31.2 KDM3B 5q31.2 PRAD
Fusion: TCGAMATR3 5q31.2 PCDHA2 5q31.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMATR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MATR3
dbVarMATR3
ClinVarMATR3
1000_GenomesMATR3 
Exome Variant ServerMATR3
ExAC (Exome Aggregation Consortium)MATR3 (select the gene name)
Genetic variants : HAPMAP9782
Genomic Variants (DGV)MATR3 [DGVbeta]
DECIPHERMATR3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMATR3 
Mutations
ICGC Data PortalMATR3 
TCGA Data PortalMATR3 
Broad Tumor PortalMATR3
OASIS PortalMATR3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMATR3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMATR3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MATR3
DgiDB (Drug Gene Interaction Database)MATR3
DoCM (Curated mutations)MATR3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MATR3 (select a term)
intoGenMATR3
Cancer3DMATR3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164015    606070   
Orphanet106    8731   
MedgenMATR3
Genetic Testing Registry MATR3
NextProtP43243 [Medical]
TSGene9782
GENETestsMATR3
Target ValidationMATR3
Huge Navigator MATR3 [HugePedia]
snp3D : Map Gene to Disease9782
BioCentury BCIQMATR3
ClinGenMATR3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9782
Chemical/Pharm GKB GenePA30655
Clinical trialMATR3
Miscellaneous
canSAR (ICR)MATR3 (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMATR3
EVEXMATR3
GoPubMedMATR3
iHOPMATR3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:58:49 CEST 2017

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