AlphaFold predicted structure
MATR3 · P43243
Mean pLDDT
57.1/ 100
Low
847 residues
Confidence breakdown
- Very high(≥ 90)2%
- Confident(70–90)35%
- Low(50–70)8%
- Very low(< 50)56%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MATR3
Chr 5q31.2matrin 3
- Aliases:
- KIAA0723, MGC9105, VCPDM
- MANE:
- ENST00000394805.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownArthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCongenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
amyotrophic lateral sclerosis
0.74distal myopathy with vocal cord weakness
0.57neurodegenerative disease
0.53distal myopathy
0.38hereditary disease
0.19Neurodegeneration
0.12Heterotaxia
0.09familial thoracic aortic aneurysm and aortic dissection
0.08atrial septal defect
0.08breast cancer
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Matrin-3
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 the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs (PubMed:32245947). May bind to specific miRNA hairpins (PubMed:28431233)
Diseases associated with MATR3
Curated MONDO disease pages that list MATR3 among their top associated genes.