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MATR3 (matrin 3)

Identity

Alias (NCBI)ALS21
MPD2
VCPDM
HGNC (Hugo) MATR3
HGNC Alias symbKIAA0723
MGC9105
VCPDM
HGNC Previous nameMPD2
HGNC Previous namemyopathy, distal 2
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;11)(q31;q23) KMT2A/MATR3


External links

Nomenclature
HGNC (Hugo)MATR3   6912
Cards
Entrez_Gene (NCBI)MATR3    matrin 3
AliasesALS21; MPD2; VCPDM
GeneCards (Weizmann)MATR3
Ensembl hg19 (Hinxton)ENSG00000015479 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000015479 [Gene_View]  ENSG00000015479 [Sequence]  chr5:139273752-139331677 [Contig_View]  MATR3 [Vega]
ICGC DataPortalENSG00000015479
TCGA cBioPortalMATR3
AceView (NCBI)MATR3
Genatlas (Paris)MATR3
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)
GoldenPathMATR3 - 5q31.2 [CytoView hg19]  MATR3 - 5q31.2 [CytoView hg38]
ImmunoBaseENSG00000015479
genome Data Viewer NCBIMATR3 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)MATR3
Alternative Splicing GalleryENSG00000015479
Gene ExpressionMATR3 [ NCBI-GEO ]   MATR3 [ EBI - ARRAY_EXPRESS ]   MATR3 [ SEEK ]   MATR3 [ MEM ]
Gene Expression Viewer (FireBrowse)MATR3 [ Firebrowse - Broad ]
GenevisibleExpression of MATR3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9782
GTEX Portal (Tissue expression)MATR3
Human Protein AtlasENSG00000015479-MATR3 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP43243
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    ZF_MATRIN (PS50171)   
Domains : Interpro (EBI)MATR3_RRM1    MATR3_RRM2    Matrin/U1-C_Znf_C2H2    Matrin/U1-like-C_Znf_C2H2    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RRM (SM00360)  ZnF_U1 (SM00451)  
Conserved Domain (NCBI)MATR3
SuperfamilyP43243
AlphaFold pdb e-kbP43243   
Human Protein Atlas [tissue]ENSG00000015479-MATR3 [tissue]
HPRD05270
Protein Interaction databases
DIP (DOE-UCLA)P43243
IntAct (EBI)P43243
BioGRIDMATR3
STRING (EMBL)MATR3
ZODIACMATR3
Ontologies - Pathways
QuickGOP43243
Ontology : AmiGOactivation of innate immune response  heart valve development  ventricular septum development  RNA binding  RNA binding  structural molecule activity  protein binding  nucleus  nuclear inner membrane  zinc ion binding  posttranscriptional regulation of gene expression  membrane  nuclear matrix  miRNA binding  identical protein binding  innate immune response  
Ontology : EGO-EBIactivation of innate immune response  heart valve development  ventricular septum development  RNA binding  RNA binding  structural molecule activity  protein binding  nucleus  nuclear inner membrane  zinc ion binding  posttranscriptional regulation of gene expression  membrane  nuclear matrix  miRNA binding  identical protein binding  innate immune response  
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
Homologs : HomoloGeneMATR3
Homology/Alignments : Family Browser (UCSC)MATR3
Gene fusions - Rearrangements
Fusion : MitelmanITM2B/MATR3 [13q14.2/5q31.2]  
Fusion : MitelmanMATR3/CTNNA1 [5q31.2/5q31.2]  
Fusion : MitelmanMATR3/KDM3B [5q31.2/5q31.2]  
Fusion : MitelmanMATR3/PCDHA2 [5q31.2/5q31.3]  
Fusion : MitelmanUBE2D2/MATR3 [5q31.2/5q31.2]  
Fusion PortalITM2B 13q14.2 MATR3 5q31.2 OV
Fusion PortalMATR3 5q31.2 CTNNA1 5q31.2 BRCA
Fusion PortalMATR3 5q31.2 KDM3B 5q31.2 PRAD
Fusion PortalMATR3 5q31.2 PCDHA2 5q31.3 BRCA
Fusion : QuiverMATR3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMATR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MATR3
dbVarMATR3
ClinVarMATR3
MonarchMATR3
1000_GenomesMATR3 
Exome Variant ServerMATR3
GNOMAD BrowserENSG00000015479
Varsome BrowserMATR3
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]  
Somatic Mutations in Cancer : COSMIC3DMATR3
Mutations and Diseases : HGMDMATR3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
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)
Cancer3DMATR3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164015    606070   
Orphanet106    8731   
DisGeNETMATR3
MedgenMATR3
Genetic Testing Registry MATR3
NextProtP43243 [Medical]
GENETestsMATR3
Target ValidationMATR3
Huge Navigator MATR3 [HugePedia]
ClinGenMATR3
Clinical trials, drugs, therapy
MyCancerGenomeMATR3
Protein Interactions : CTDMATR3
Pharm GKB GenePA30655
PharosP43243
Clinical trialMATR3
Miscellaneous
canSAR (ICR)MATR3
HarmonizomeMATR3
DataMed IndexMATR3
Probes
Litterature
PubMed238 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMATR3
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 22:22:57 CEST 2021

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