• Gene id: 9782

Gene Summary

• Gene Symbol: MATR3   Gene   UCSC   Ensembl
• Aliases: ALS21, MPD2, VCPDM
• Gene name: matrin 3
• Alternate names: matrin-3, vocal cord and pharyngeal weakness with distal myopathy,
• Gene location: 5q31.2 (139273751: 139331676)     Exons: 19     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 164015

Protein Summary

• Protein general information: P43243  
  • Name: Matrin 3
  • Length: 847  
  • Mass: 94623
• Sequence:

  MSKSFQQSSLSRDSQGHGRDLSAAGIGLLAAATQSLSMPASLGRMNQGTARLASLMNLGMSSSLNQQGAHSALSS
  ASTSSHNLQSIFNIGSRGPLPLSSQHRGDADQASNILASFGLSARDLDELSRYPEDKITPENLPQILLQLKRRRT
  EEGPTLSYGRDGRSATREPPYRVPRDDWEEKRHFRRDSFDDRGPSLNPVLDYDHGSRSQESGYYDRMDYEDDRLR
  DGERCRDDSFFGETSHNYHKFDSEYERMGRGPGPLQERSLFEKKRGAPPSSNIEDFHGLLPKGYPHLCSICDLPV
  HSNKEWSQHINGASHSRRCQLLLEIYPEWNPDNDTGHTMGDPFMLQQSTNPAPGILGPPPPSFHLGGPAVGPRGN
  LGAGNGNLQGPRHMQKGRVETSRVVHIMDFQRGKNLRYQLLQLVEPFGVISNHLILNKINEAFIEMATTEDAQAA
  VDYYTTTPALVFGKPVRVHLSQKYKRIKKPEGKPDQKFDQKQELGRVIHLSNLPHSGYSDSAVLKLAEPYGKIKN
  YILMRMKSQAFIEMETREDAMAMVDHCLKKALWFQGRCVKVDLSEKYKKLVLRIPNRGIDLLKKDKSRKRSYSPD
  GKESPSDKKSKTDGSQKTESSTEGKEQEEKSGEDGEKDTKDDQTEQEPNMLLESEDELLVDEEEAAALLESGSSV
  GDETDLANLGDVASDGKKEPSDKAVKKDGSASAAAKKKLKKVDKIEELDQENEAALENGIKNEENTEPGAESSEN
  ADDPNKDTSENADGQSDENKDDYTIPDEYRIGPYQPNVPVGIDYVIPKTGFYCKLCSLFYTNEEVAKNTHCSSLP
  HYQKLKKFLNKLAEERRQKKET

• Structural information:
  • Protein Domains: (398..47-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (496..57-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034928  IPR034930  IPR000690  IPR003604  IPR012677   IPR035979  IPR000504  
  • Prosite: PS50102 PS50171
  • CDD: cd12714 cd12715
  • STRING: ENSP00000354346
• Other Databases: GeneCards:  MATR3  Malacards:  MATR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005637	nuclear inner membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003170	heart valve development	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0006417	regulation of translation	IBA	biological process
GO:0035198	miRNA binding	IDA	molecular function
GO:0002218	activation of innate immune response	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Amyotrophic lateral sclerosis	KEGG:H00058
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881