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Aliases for MATR3 Gene

Aliases for MATR3 Gene

  • Matrin 3 2 3
  • MPD2 3 6
  • Vocal Cord And Pharyngeal Weakness With Distal Myopathy 3
  • Myopathy, Distal 2 2
  • Matrin-3 3
  • KIAA0723 4
  • ALS21 3
  • VCPDM 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 distal myopathy with vocal cord weakness. GO annotations related to this gene include RNA binding and structural molecule activity. An important paralog of this gene is RBM20.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for MATR3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MATR3 Gene

Genomics for MATR3 Gene

Regulatory Elements for MATR3 Gene

Genomic Location for MATR3 Gene

Start:
139,273,752 bp from pter
End:
139,331,677 bp from pter
Size:
57,926 bases
Orientation:
Plus strand

Genomic View for MATR3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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, C11orf30/EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity. Interacts with TARDBP.
    SequenceCaution:
    • Sequence=AAF17217.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAA34443.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MATR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MATR3 Gene

Proteomics data for MATR3 Gene at MOPED

Post-translational modifications for MATR3 Gene

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

No data available for DME Specific Peptides for MATR3 Gene

Domains for MATR3 Gene

Graphical View of Domain Structure for InterPro Entry

P43243

UniProtKB/Swiss-Prot:

MATR3_HUMAN :
  • P43243
Domain:
  • Contains 2 RRM (RNA recognition motif) domains.
Similarity:
  • Contains 1 matrin-type zinc finger.
genes like me logo Genes that share domains with MATR3: view

No data available for Gene Families for MATR3 Gene

Function for MATR3 Gene

Molecular function for MATR3 Gene

GENATLAS Biochemistry: matrin 3
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.

Gene Ontology (GO) - Molecular Function for MATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0005198 structural molecule activity TAS 2033075
GO:0005515 protein binding IPI 17932509
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MATR3: view

Phenotypes for MATR3 Gene

GenomeRNAi human phenotypes for MATR3:
genes like me logo Genes that share phenotypes with MATR3: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MATR3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for MATR3 Gene COMPARTMENTS Subcellular localization image for MATR3 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for MATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005637 nuclear inner membrane TAS 2033075
GO:0005654 nucleoplasm IDA --
GO:0016020 membrane IDA 19946888
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with MATR3: view

Pathways for MATR3 Gene

SuperPathways for MATR3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
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 for MATR3 Gene

Compounds for MATR3 Gene

(1) Novoseek inferred chemical compound relationships for MATR3 Gene

Compound -log(P) Hits PubMed IDs
arginine 31.8 2
genes like me logo Genes that share compounds with MATR3: view

Transcripts for MATR3 Gene

Unigene Clusters for MATR3 Gene

Matrin 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MATR3

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MATR3

Expression for MATR3 Gene

mRNA expression in normal human tissues for MATR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MATR3 Gene

SOURCE GeneReport for Unigene cluster for MATR3 Gene Hs.268939

genes like me logo Genes that share expressions with MATR3: view

In Situ Assay Products

No data available for 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 35
  • 99.8 (n)
  • 99.65 (a)
MATR3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
MATR3 35
  • 95.16 (n)
  • 97.98 (a)
dog
(Canis familiaris)
Mammalia MATR3 35
  • 96.26 (n)
  • 98.58 (a)
MATR3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Matr3 35
  • 94.84 (n)
  • 98.46 (a)
Matr3 16
Matr3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MATR3 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATR3 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Matr3 35
  • 94.83 (n)
  • 97.99 (a)
chicken
(Gallus gallus)
Aves MATR3 35
  • 81.22 (n)
  • 82.78 (a)
MATR3 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MATR3 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7663 35
tropical clawed frog
(Silurana tropicalis)
Amphibia matr3 35
  • 65.82 (n)
  • 58.2 (a)
Str.6585 35
zebrafish
(Danio rerio)
Actinopterygii MATR3 (2 of 2) 36
  • 16 (a)
OneToMany
matr3l1.1 36
  • 18 (a)
OneToMany
Species with no ortholog for MATR3:
  • 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)

Paralogs for MATR3 Gene

Paralogs for MATR3 Gene

Pseudogenes.org Pseudogenes for MATR3 Gene

genes like me logo Genes that share paralogs with MATR3: view

Variants for MATR3 Gene

Sequence variations from dbSNP and Humsavar for MATR3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs7305 -- 139,330,067(+) TTCCC(A/G)TTATC utr-variant-3-prime
rs13698 -- 139,329,572(+) CACAT(A/G)TGGTT utr-variant-3-prime
rs14109 -- 139,330,103(+) CTTAC(C/T)GCTTG utr-variant-3-prime
rs15250 -- 139,330,087(+) TATTA(A/G)TTTTT utr-variant-3-prime
rs883578 -- 139,321,159(-) AAAAA(A/C)CAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv882940 CNV Loss 21882294
esv2730825 CNV Deletion 23290073
esv2730826 CNV Deletion 23290073
esv2730827 CNV Deletion 23290073

Relevant External Links for MATR3 Gene

HapMap Linkage Disequilibrium report
MATR3
Human Gene Mutation Database (HGMD)
MATR3
Locus Specific Mutation Databases (LSDB)
MATR3

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

Disorders for MATR3 Gene

(1) OMIM Diseases for MATR3 Gene (164015)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MATR3 Gene

Relevant External Links for MATR3

Genetic Association Database (GAD)
MATR3
Human Genome Epidemiology (HuGE) Navigator
MATR3
genes like me logo Genes that share disorders with MATR3: view

Publications for MATR3 Gene

  1. Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain. (PMID: 2033075) Belgrader P. … Berezney R. (J. Biol. Chem. 1991) 2 3 4 23
  2. 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 C.E. (Am. J. Hum. Genet. 2009) 2 3 4 23
  3. Matrin 3 is a Ca2+/calmodulin-binding protein cleaved by caspases. (PMID: 17658460) Valencia C.A. … Liu R. (Biochem. Biophys. Res. Commun. 2007) 3 23
  4. Identifying functional neighborhoods within the cell nucleus: proximity analysis of early S-phase replicating chromatin domains to sites of transcription, RNA polymerase II, HP1gamma, matrin 3 and SAF-A. (PMID: 18618731) Malyavantham K.S. … Berezney R. (J. Cell. Biochem. 2008) 3 23
  5. Mapping of human DNA-binding nuclear protein (NP220) to chromosome band 2p13.1-p13.2 and its relation to matrin 3. (PMID: 9757574) Okumara K. … Kitagawa Y. (Biosci. Biotechnol. Biochem. 1998) 3 23

Products for MATR3 Gene

  • Addgene plasmids for MATR3

Sources for MATR3 Gene

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