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Aliases for MATR3 Gene

Aliases for MATR3 Gene

  • Matrin 3 5 2 3
  • 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 Distal Myopathy With Vocal Cord Weakness. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ZNF638.

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

Enhancers for MATR3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MATR3 on UCSC Golden Path with GeneCards custom track

Promoters for MATR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MATR3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MATR3 Gene

Chromosome:
5
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

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 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.
    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 Lys 132, Lys 146, Lys 181, Lys 245, Lys 515, Lys 522, and Lys 555
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MATR3 Gene

Domains & Families for MATR3 Gene

Graphical View of Domain Structure for InterPro Entry

P43243

UniProtKB/Swiss-Prot:

MATR3_HUMAN :
  • Contains 2 RRM (RNA recognition motif) domains.
  • Contains 1 matrin-type zinc finger.
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 IEA --
GO:0005198 structural molecule activity TAS 2033075
GO:0005515 protein binding IPI 17932509
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

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

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:0005654 nucleoplasm IDA --
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with MATR3: view

Pathways & Interactions for MATR3 Gene

SuperPathways for MATR3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MATR3 Gene

None

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

Unigene Clusters for MATR3 Gene

Matrin 3:
Representative Sequences:

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

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, MOPED, and MaxQB for MATR3 Gene



SOURCE GeneReport for Unigene cluster for MATR3 Gene Hs.268939

genes like me logo Genes that share expression patterns with MATR3: view

Protein tissue co-expression partners for MATR3 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia MATR3 35
  • 95.16 (n)
  • 97.98 (a)
-- 36
  • 96 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
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
chimpanzee
(Pan troglodytes)
Mammalia MATR3 35
  • 99.8 (n)
  • 99.65 (a)
MATR3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Matr3 35
  • 94.83 (n)
  • 97.99 (a)
oppossum
(Monodelphis domestica)
Mammalia MATR3 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATR3 36
  • 80 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia matr3 35
  • 65.82 (n)
  • 58.2 (a)
Str.6585 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7663 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
rs121434591 Amyotrophic lateral sclerosis 21 (ALS21) 139,307,669(+) GCAGT(C/G)TATAT intron-variant, reference, missense
VAR_071078 Amyotrophic lateral sclerosis 21 (ALS21)
VAR_071079 -
VAR_071080 Amyotrophic lateral sclerosis 21 (ALS21)
VAR_074067 -

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

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)

Relevant External Links for MATR3 Gene

Human Gene Mutation Database (HGMD)
MATR3

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

Disorders for MATR3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MATR3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 21
  • amyotrophic lateral sclerosis type 21
distal myopathy with vocal cord weakness
  • distal myopathy 2
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
aortic coarctation
  • coarctation of the aorta
patent ductus arteriosus
  • ductus arteriosus, patent
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MATR3

Genetic Association Database (GAD)
MATR3
Human Genome Epidemiology (HuGE) Navigator
MATR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MATR3
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 C.E. (Am. J. Hum. Genet. 2009) 2 3 4 23 67
  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. (J. Biol. Chem. 1991) 2 3 23
  3. 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
  4. 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
  5. Manifold decreased protein levels of matrin 3, reduced motor protein HMP and hlark in fetal Down's syndrome brain. (PMID: 12469345) Bernert G. … Lubec G. (Proteomics 2002) 3 23

Products for MATR3 Gene

Sources for MATR3 Gene

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