• Gene id: 4858

Gene Summary

• Gene Symbol: NOVA2   Gene   UCSC   Ensembl
• Aliases: ANOVA, NEDASB, NOVA-2, NOVA3
• Gene name: NOVA alternative splicing regulator 2
• Alternate names: RNA-binding protein Nova-2, astrocytic NOVA1-like RNA-binding protein, neuro-oncological ventral antigen 2, neuro-oncological ventral antigen 3,
• Gene location: 19q13.32 (167735809: 167683297)     Exons: 12     NC_000003.12
• OMIM: 601991

Protein Summary

• Protein general information: Q9UNW9  
  • Name: RNA binding protein Nova 2 (Astrocytic NOVA1 like RNA binding protein) (Neuro oncological ventral antigen 2)
  • Length: 492  
  • Mass: 49009
  • Tissue specificity: Brain. Expression restricted to astrocytes.
• Sequence:

  MEPEAPDSRKRPLETPPEVVCTKRSNTGEEGEYFLKVLIPSYAAGSIIGKGGQTIVQLQKETGATIKLSKSKDFY
  PGTTERVCLVQGTAEALNAVHSFIAEKVREIPQAMTKPEVVNILQPQTTMNPDRAKQAKLIVPNSTAGLIIGKGG
  ATVKAVMEQSGAWVQLSQKPEGINLQERVVTVSGEPEQVHKAVSAIVQKVQEDPQSSSCLNISYANVAGPVANSN
  PTGSPYASPADVLPAAAAASAAAASGLLGPAGLAGVGAFPAALPAFSGTDLLAISTALNTLASYGYNTNSLGLGL
  NSAAASGVLAAVAAGANPAAAAAANLLASYAGEAGAGPAGGAAPPPPPPPGALGSFALAAAANGYLGAGAGGGAG
  GGGGPLVAAAAAAGAAGGFLTAEKLAAESAKELVEIAVPENLVGAILGKGGKTLVEYQELTGARIQISKKGEFLP
  GTRNRRVTITGSPAATQAAQYLISQRVTYEQGVRASNPQKVG

• Structural information:
  • Protein Domains: (32..9-)
    (/note="KH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (130..19-)
    (/note="KH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (406..47-)
    (/note="KH-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117"-)
  • Interpro: IPR004087  IPR004088  IPR036612  IPR033087  
  • Prosite: PS50084
  • PDB: 1DTJ 1EC6
  • PDBsum: 1DTJ 1EC6
  • STRING: ENSP00000263257
• Other Databases: GeneCards:  NOVA2  Malacards:  NOVA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0051252	regulation of RNA metabolic process	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray