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 transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding)... See more...

Aliases for MATR3 Gene

Aliases for MATR3 Gene

  • Matrin 3 2 3 5
  • Matrin-3 3 4
  • Vocal Cord And Pharyngeal Weakness With Distal Myopathy 3
  • Myopathy, Distal 2 2
  • KIAA0723 4
  • ALS21 3
  • VCPDM 3
  • MPD2 3

External Ids for MATR3 Gene

Previous HGNC Symbols for MATR3 Gene

  • MPD2

Previous GeneCards Identifiers for MATR3 Gene

  • GC05P138504
  • GC05P139284
  • GC05P138640
  • GC05P138705
  • GC05P138657
  • GC05P138609

Summaries for MATR3 Gene

Entrez Gene Summary for MATR3 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 transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]

GeneCards Summary for MATR3 Gene

MATR3 (Matrin 3) is a Protein Coding gene. Diseases associated with MATR3 include Amyotrophic Lateral Sclerosis 21 and Amyotrophic Lateral Sclerosis 1. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ENSG00000280987.

UniProtKB/Swiss-Prot Summary for MATR3 Gene

  • 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). May bind to specific miRNA hairpins (PubMed:28431233).

Gene Wiki entry for MATR3 Gene

Additional gene information for MATR3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MATR3 Gene

Genomics for MATR3 Gene

GeneHancer (GH) Regulatory Elements for MATR3 Gene

Promoters and enhancers for MATR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J139270 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 514.9 +1.3 1295 8.2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A NRF1 TCF12 MYC POLR2G USF1 MATR3 HQ292149 ENSG00000280987 SNHG4 SNORA74D piR-48759-252 DNAJC18 REEP2 LRRTM2 IGIP
GH05J139292 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +21.1 21149 5 ZBTB40 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 SIL1 lnc-SIL1-3 MATR3 PURA RPL7P19 DNAJC18 CTNNA1 KDM3B RF00001-264 RNA5SP195
GH05J139307 Promoter 0.6 EPDnew 500.3 +34.0 34036 0.1 RBM22 ZNF24 KLF10 ZNF404 POLR2A lnc-PAIP2-3 piR-38417 MATR3 IGIP PAIP2 SLC23A1 DNAJC18 HSPA9 REEP2 lnc-PAIP2-5
GH05J139313 Promoter 0.6 EPDnew 512.5 +39.7 39681 0.1 TAL1 ZNF384 EGR2 MATR3 PAIP2 SNORA74A SLC23A1 SNORD63 SNORD63B HSPA9 lnc-PAIP2-2 RF00017-4937 ENSG00000280987
GH05J139308 Promoter 0.6 EPDnew 500.3 +34.5 34507 0.1 ZNF10 POLR2A KLF10 lnc-PAIP2-2 lnc-PAIP2-3 piR-38417 MATR3 PAIP2 SLC23A1 HSPA9 ENSG00000280987 SNHG4 RF00017-4936
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MATR3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MATR3

Top Transcription factor binding sites by QIAGEN in the MATR3 gene promoter:
  • IRF-1
  • Nkx2-5
  • Nkx6-1
  • POU2F1a

Genomic Locations for MATR3 Gene

Genomic Locations for MATR3 Gene
chr5:139,273,752-139,331,677
(GRCh38/hg38)
Size:
57,926 bases
Orientation:
Plus strand
chr5:138,609,441-138,667,366
(GRCh37/hg19)
Size:
57,926 bases
Orientation:
Plus strand

Genomic View for MATR3 Gene

Genes around MATR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MATR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MATR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MATR3 Gene

Proteins for MATR3 Gene

  • Protein details for MATR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43243-MATR3_HUMAN
    Recommended name:
    Matrin-3
    Protein Accession:
    P43243
    Secondary Accessions:
    • B7ZAV5
    • D3DQC3
    • Q9UHW0
    • Q9UQ27

    Protein attributes for MATR3 Gene

    Size:
    847 amino acids
    Molecular mass:
    94623 Da
    Quaternary structure:
    • Part of a complex consisting of SFPQ, NONO and MATR3. Interacts with AGO1 and AGO2. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity. Interacts with TARDBP. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA (PubMed:28712728). Interacts with FUS.
    SequenceCaution:
    • Sequence=AAF17217.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA34443.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MATR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MATR3 Gene

Post-translational modifications for MATR3 Gene

  • Ubiquitination at Lys3, Lys132, Lys146, Lys181, Lys515, Lys522, Lys245, Lys555, and Lys836
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MATR3 Gene

Domains & Families for MATR3 Gene

Gene Families for MATR3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MATR3 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • Zn-finger, U1-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MATR3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ10526 fis, clone NT2RP2000931, highly similar to Matrin-3 (B3KM87_HUMAN)
  • cDNA, FLJ79319, highly similar to Matrin-3 (B7ZAV5_HUMAN)
  • Matrin-3 (MATR3_HUMAN)
genes like me logo Genes that share domains with MATR3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MATR3 Gene

Function for MATR3 Gene

Molecular function for MATR3 Gene

UniProtKB/Swiss-Prot 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 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). May bind to specific miRNA hairpins (PubMed:28431233).
GENATLAS Biochemistry:
matrin 3

Phenotypes From GWAS Catalog for MATR3 Gene

Gene Ontology (GO) - Molecular Function for MATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0005198 structural molecule activity TAS 2033075
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MATR3: view
genes like me logo Genes that share phenotypes with MATR3: view

Human Phenotype Ontology for MATR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MATR3

Clone Products

  • Addgene plasmids for MATR3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MATR3 Gene

Localization for MATR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MATR3 Gene

Nucleus matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MATR3 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane TAS 2033075
GO:0016020 membrane HDA 19946888
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with MATR3: view

Pathways & Interactions for MATR3 Gene

PathCards logo

SuperPathways for MATR3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response IDA 28712728
GO:0002376 immune system process IEA --
GO:0003170 heart valve development ISS --
GO:0003281 ventricular septum development ISS --
GO:0010608 posttranscriptional regulation of gene expression IDA 21771347
genes like me logo Genes that share ontologies with MATR3: view

No data available for Pathways by source and SIGNOR curated interactions for MATR3 Gene

Drugs & Compounds for MATR3 Gene

(1) Drugs for MATR3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MATR3: view

Transcripts for MATR3 Gene

mRNA/cDNA for MATR3 Gene

6 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MATR3

Clone Products

  • Addgene plasmids for MATR3

Alternative Splicing Database (ASD) splice patterns (SP) for MATR3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^
SP1: - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - -
SP6:
SP7:
SP8: - - - - - - - - - - - - - - - -
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16: - - - - - - -
SP17: - - - - - - - -
SP18: - - - - - - - - - - - -
SP19: - - - - - -
SP20: - - - - -
SP21: - - - - - - - - - -
SP22: - - - -
SP23: - -
SP24: -
SP25:

ExUns: 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b
SP1: - - -
SP2: -
SP3: -
SP4: -
SP5:
SP6: -
SP7: - -
SP8: - - - - -
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for MATR3 Gene

GeneLoc Exon Structure for
MATR3

Expression for MATR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MATR3 Gene

Protein differential expression in normal tissues from HIPED for MATR3 Gene

This gene is overexpressed in Fetal Brain (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MATR3 Gene



Protein tissue co-expression partners for MATR3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MATR3

SOURCE GeneReport for Unigene cluster for MATR3 Gene:

Hs.268939

Evidence on tissue expression from TISSUES for MATR3 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Skin(4.6)
  • Blood(4.3)
  • Muscle(4.2)
  • Kidney(3.1)
  • Eye(3)
  • Lung(2.9)
  • Intestine(2.8)
  • Bone marrow(2.1)
  • Heart(2.1)
  • Lymph node(2.1)
  • Thyroid gland(2.1)
  • Adrenal gland(2)
  • Gall bladder(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MATR3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MATR3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MATR3 Gene

Orthologs for MATR3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MATR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MATR3 31 30
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MATR3 31 30
  • 96.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 96 (a)
OneToMany
MATR3 30
  • 95.16 (n)
-- 31
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Matr3 17 31 30
  • 94.84 (n)
rat
(Rattus norvegicus)
Mammalia Matr3 30
  • 94.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MATR3 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATR3 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MATR3 31 30
  • 81.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MATR3 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia matr3 30
  • 65.82 (n)
Str.6585 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7663 30
zebrafish
(Danio rerio)
Actinopterygii matr3l1.1 31
  • 18 (a)
OneToMany
MATR3 (2 of 2) 31
  • 16 (a)
OneToMany
Species where no ortholog for MATR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MATR3 Gene

ENSEMBL:
Gene Tree for MATR3 (if available)
TreeFam:
Gene Tree for MATR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MATR3: view image

Paralogs for MATR3 Gene

Paralogs for MATR3 Gene

(4) SIMAP similar genes for MATR3 Gene using alignment to 20 proteins:

  • MATR3_HUMAN
  • A8MXP9_HUMAN
  • B3KM87_HUMAN
  • D6R8Z5_HUMAN
  • D6R991_HUMAN
  • D6R9F3_HUMAN
  • D6R9N0_HUMAN
  • D6RAM9_HUMAN
  • D6RAY2_HUMAN
  • D6RB45_HUMAN
  • D6RBI2_HUMAN
  • D6RBK5_HUMAN
  • D6RBS2_HUMAN
  • D6RCM3_HUMAN
  • D6RE02_HUMAN
  • D6REK4_HUMAN
  • D6REM6_HUMAN
  • D6RIA2_HUMAN
  • H0Y8S1_HUMAN
  • H0Y8T4_HUMAN
genes like me logo Genes that share paralogs with MATR3: view

Variants for MATR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MATR3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
640602 Uncertain Significance: Amyotrophic lateral sclerosis 21 139,325,564(+) C/A MISSENSE_VARIANT
644662 Uncertain Significance: Amyotrophic lateral sclerosis 21 139,322,693(+) A/C MISSENSE_VARIANT
651450 Uncertain Significance: Amyotrophic lateral sclerosis 21 139,317,055(+) G/A MISSENSE_VARIANT
652772 Uncertain Significance: Amyotrophic lateral sclerosis 21 139,329,376(+) G/C MISSENSE_VARIANT
657091 Uncertain Significance: Amyotrophic lateral sclerosis 21 139,307,719(+) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MATR3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MATR3 Gene

Variant ID Type Subtype PubMed ID
esv2730825 CNV deletion 23290073
esv2730826 CNV deletion 23290073
esv2730827 CNV deletion 23290073
esv3566711 CNV deletion 23714750
esv3606937 CNV loss 21293372
nsv1148119 CNV deletion 26484159
nsv1149796 CNV deletion 26484159
nsv1150239 CNV deletion 26484159
nsv1152166 CNV deletion 26484159
nsv950409 CNV duplication 24416366
nsv980731 CNV duplication 23825009

Variation tolerance for MATR3 Gene

Residual Variation Intolerance Score: 4.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MATR3 Gene

Human Gene Mutation Database (HGMD)
MATR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MATR3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MATR3 Gene

Disorders for MATR3 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MATR3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 21
  • als21
amyotrophic lateral sclerosis 1
  • als1
myopathy
  • muscular diseases
lateral sclerosis
  • adult-onset primary lateral sclerosis
autosomal dominant distal myopathy
- elite association - COSMIC cancer census association via MalaCards
Search MATR3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MATR3_HUMAN
  • Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]: A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia. {ECO:0000269 PubMed:19344878, ECO:0000269 PubMed:24686783, ECO:0000269 PubMed:25771394, ECO:0000269 PubMed:26199109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MATR3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MATR3: view

No data available for Genatlas for MATR3 Gene

Publications for MATR3 Gene

  1. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. (PMID: 19344878) Senderek J … Jackson CE (American journal of human genetics 2009) 2 3 4 23 54
  2. Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain. (PMID: 2033075) Belgrader P … Berezney R (The Journal of biological chemistry 1991) 2 3 4 23 54
  3. A Compendium of RNA-Binding Proteins that Regulate MicroRNA Biogenesis. (PMID: 28431233) Treiber T … Meister G (Molecular cell 2017) 3 4 54
  4. HEXIM1 and NEAT1 Long Non-coding RNA Form a Multi-subunit Complex that Regulates DNA-Mediated Innate Immune Response. (PMID: 28712728) Morchikh M … Benkirane M (Molecular cell 2017) 3 4 54
  5. FUS interacts with nuclear matrix-associated protein SAFB1 as well as Matrin3 to regulate splicing and ligand-mediated transcription. (PMID: 27731383) Yamaguchi A … Takanashi K (Scientific reports 2016) 3 4 54

Products for MATR3 Gene

Sources for MATR3 Gene