• Gene id: 10150

Gene Summary

• Gene Symbol: MBNL2   Gene   UCSC   Ensembl
• Aliases: MBLL, MBLL39, PRO2032
• Gene name: muscleblind like splicing regulator 2
• Alternate names: muscleblind-like protein 2, muscleblind-like 2, muscleblind-like protein 1, muscleblind-like protein-like 39,
• Gene location: 13q32.1 (97222288: 97394119)     Exons: 11     NC_000013.11
• Gene summary(Entrez): This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to
• OMIM: 610796

Protein Summary

• Protein general information: Q5VZF2  
  • Name: Muscleblind like protein 2 (Muscleblind like protein 1) (Muscleblind like protein like) (Muscleblind like protein like 39)
  • Length: 373  
  • Mass: 40518
  • Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQVENGRVIACFDSLKGRCSRENCKYLHPPTHL
  KTQLEINGRNNLIQQKTAAAMLAQQMQFMFPGTPLHPVPTFPVGPAIGTNTAISFAPYLAPVTPGVGLVPTEILP
  TTPVIVPGSPPVTVPGSTATQKLLRTDKLEVCREFQRGNCARGETDCRFAHPADSTMIDTSDNTVTVCMDYIKGR
  CMREKCKYFHPPAHLQAKIKAAQHQANQAAVAAQAAAAAATVMAFPPGALHPLPKRQALEKSNGTSAVFNPSVLH
  YQQALTSAQLQQHAAFIPTGSVLCMTPATSIDNSEIISRNGMECQESALRITKHCYCTYYPVSSSIELPQTAC

• Structural information:
  • Interpro: IPR000571  
  • Prosite: PS50103
  • PDB: 2E5S 2RPP
  • PDBsum: 2E5S 2RPP
  • STRING: ENSP00000267287
• Other Databases: GeneCards:  MBNL2  Malacards:  MBNL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)