Gene Gene information from NCBI Gene database.
Entrez ID 9782
Gene name Matrin 3
Gene symbol MATR3
Synonyms (NCBI Gene)
ALS21MPD2VCPDM
Chromosome 5
Chromosome location 5q31.2
Summary This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcri
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs121434591 C>G Pathogenic Coding sequence variant, intron variant, missense variant
rs587777300 T>G Pathogenic Coding sequence variant, missense variant, intron variant
rs587777301 A>G Pathogenic Coding sequence variant, missense variant
rs587777302 C>T Pathogenic Coding sequence variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
565
miRTarBase ID miRNA Experiments Reference
MIRT002350 kshv-miR-K12-11-3p Luciferase reporter assay 17881434
MIRT001804 hsa-miR-155-5p Luciferase reporter assay 17881434
MIRT005035 hsa-miR-200b-3p Luciferase reporter assayMicroarrayqRT-PCR 19849700
MIRT001804 hsa-miR-155-5p Reporter assay;Other 17881434
MIRT023619 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001825 Process Blastocyst formation IEA
GO:0002218 Process Activation of innate immune response IDA 28712728
GO:0002376 Process Immune system process IEA
GO:0003170 Process Heart valve development IEA
GO:0003170 Process Heart valve development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164015 6912 ENSG00000015479
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43243
Protein name Matrin-3
Protein function May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13893 RRM_5 377 487 Domain
Sequence
MSKSFQQSSLSRDSQGHGRDLSAAGIGLLAAATQSLSMPASLGRMNQGTARLASLMNLGM
SSSLNQQGAHSALSSASTSSHNLQSIFNIGSRGPLPLSSQHRGDADQASNILASFGLSAR
DLDELSRYPEDKITPENLPQILLQLKRRRTEEGPTLSYGRDGRSATREPPYRVPRDDWEE
KRHFRRDSFDDRGPSLNPVLDYDHGSRSQESGYYDRMDYEDDRLRDGERCRDDSFFGETS
HNYHKFDSEYERMGRGPGPLQERSLFEKKRGAPPSSNIEDFHGLLPKGYPHLCSICDLPV
HSNKEWSQHINGASHSRRCQLLLEIYPEWNPDNDTGHTMGDPFMLQQSTNPAPGILGPPP
PSFHLGGPAVGPRGNLGAGNGNLQGPRHMQKGRVETSRVVHIMDFQRGKNLRYQLLQLVE
PFGVISNHLILNKINEAFIEMATTEDAQAAVDYYTTTPALVFGKPVRVHLSQKYKRIKKP
EGKPDQK
FDQKQELGRVIHLSNLPHSGYSDSAVLKLAEPYGKIKNYILMRMKSQAFIEME
TREDAMAMVDHCLKKALWFQGRCVKVDLSEKYKKLVLRIPNRGIDLLKKDKSRKRSYSPD
GKESPSDKKSKTDGSQKTESSTEGKEQEEKSGEDGEKDTKDDQTEQEPNMLLESEDELLV
DEEEAAALLESGSSVGDETDLANLGDVASDGKKEPSDKAVKKDGSASAAAKKKLKKVDKI
EELDQENEAALENGIKNEENTEPGAESSENADDPNKDTSENADGQSDENKDDYTIPDEYR
IGPYQPNVPVGIDYVIPKTGFYCKLCSLFYTNEEVAKNTHCSSLPHYQKLKKFLNKLAEE
RRQKKET
Sequence length 847
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Amyotrophic lateral sclerosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
526
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis type 21 Pathogenic rs121434591 RCV000015039
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs62381610, rs80036770 RCV005918346
RCV005894390
Amyotrophic lateral sclerosis Uncertain significance rs2151961199, rs1755816787, rs758915987 RCV001843922
RCV001843923
RCV003994601
Cervical cancer Benign; Likely benign; Uncertain significance rs80036770, rs774202102 RCV005894392
RCV005934705
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs145516036 RCV005898925
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Cortex Neoplasms Associate 19849700
Amyotrophic Lateral Sclerosis Associate 24686783, 29511296, 30366341, 32731393, 37011198, 37381832, 37703175, 37722062
Amyotrophic lateral sclerosis 1 Associate 29128563
Aneurysm Associate 29929532
Atrial Fibrillation Associate 36952494
Breast Neoplasms Associate 32977861
Carcinoma Hepatocellular Associate 30637779
Carcinoma Hepatocellular Stimulate 38252499
Colorectal Neoplasms Associate 28580901
Depressive Disorder Major Associate 37098514