Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9782
Gene name Gene Name - the full gene name approved by the HGNC.
Matrin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MATR3
Synonyms (NCBI Gene) Gene synonyms aliases
ALS21, MPD2, VCPDM
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, Microarray, qRT-PCR 19849700
MIRT001804 hsa-miR-155-5p Reporter assay;Other 17881434
MIRT023619 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164015 6912 ENSG00000015479
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis type 21 rs121434591 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
distal myopathy Distal myopathy N/A N/A ClinVar
Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy N/A N/A GWAS
Myopathy distal myopathy with vocal cord weakness N/A N/A GenCC
Associations from Text Mining Disease 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