MATR3 (matrin 3)

2014-08-01  

Identity

HGNC
LOCATION
5q31.2
LOCUSID
ALIAS
ALS21,MPD2,VCPDM
FUSION GENES

Other Information

Locus ID:

NCBI: 9782
MIM: 164015
HGNC: 6912
Ensembl: ENSG00000280987

Variants:

dbSNP: 9782
ClinVar: 9782
TCGA: ENSG00000280987
COSMIC: MATR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000280987ENST00000361059A0A0R4J2E8
ENSG00000280987ENST00000394800A8MXP9
ENSG00000280987ENST00000502394D6RCM3
ENSG00000280987ENST00000502929A8MXP9
ENSG00000280987ENST00000504203B3KM87
ENSG00000280987ENST00000505016D6RB45
ENSG00000280987ENST00000506147D6R9N0
ENSG00000280987ENST00000509644D6RAM9
ENSG00000280987ENST00000514694D6R8Z5

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
246867832014Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.138
204217352010Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response.78
218582322011Matrin 3 binds and stabilizes mRNA.47
217713462011Characterization of the HIV-1 RNA associated proteome identifies Matrin 3 as a nuclear cofactor of Rev function.45
255999922015Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB.44
217713472011Matrin 3 is a co-factor for HIV-1 Rev in regulating post-transcriptional viral gene expression.39
193448782009Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.36
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
192407912009Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.24

Citation

Dessen P

MATR3 (matrin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54443/matr3