• Gene id: 10641

Gene Summary

• Gene Symbol: NPRL2   Gene   UCSC   Ensembl
• Aliases: FFEVF2, NPR2, NPR2L, TUSC4
• Gene name: NPR2 like, GATOR1 complex subunit
• Alternate names: GATOR complex protein NPRL2, 2810446G01Rik, G21 protein, NPR2-like protein, gene 21 protein, homologous to yeast nitrogen permease (candidate tumor suppressor), nitrogen permease regulator 2-like protein, tumor suppressor candidate 4,
• Gene location: 3p21.31 (3127550: 3126609)     Exons: 1     NC_000017.11
• OMIM: 607072

Protein Summary

• Protein general information: Q8WTW4  
  • Name: GATOR complex protein NPRL2 (Gene 21 protein) (G21 protein) (Nitrogen permease regulator 2 like protein) (NPR2 like protein) (Tumor suppressor candidate 4)
  • Length: 380  
  • Mass: 43658
  • Tissue specificity: Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in lung, kidney, placenta and heart. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes (PubMed
• Sequence:

  MGSGCRIECIFFSEFHPTLGPKITYQVPEDFISRELFDTVQVYIITKPELQNKLITVTAMEKKLIGCPVCIEHKK
  YSRNALLFNLGFVCDAQAKTCALEPIVKKLAGYLTTLELESSFVSMEESKQKLVPIMTILLEELNASGRCTLPID
  ESNTIHLKVIEQRPDPPVAQEYDVPVFTKDKEDFFNSQWDLTTQQILPYIDGFRHIQKISAEADVELNLVRIAIQ
  NLLYYGVVTLVSILQYSNVYCPTPKVQDLVDDKSLQEACLSYVTKQGHKRASLRDVFQLYCSLSPGTTVRDLIGR
  HPQQLQHVDERKLIQFGLMKNLIRRLQKYPVRVTREEQSHPARLYTGCHSYDEICCKTGMSYHELDERLENDPNI
  IICWK

• Structural information:
  • Interpro: IPR009348  
  • PDB: 6CES 6CET
  • PDBsum: 6CES 6CET
  • DIP: 50746
  • STRING: ENSP00000232501
• Other Databases: GeneCards:  NPRL2  Malacards:  NPRL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006995	cellular response to nitrogen starvation	IBA	biological process
GO:0034198	cellular response to amino acid starvation	IBA	biological process
GO:1990130	GATOR1 complex	IBA	cellular component
GO:2000785	regulation of autophagosome assembly	IBA	biological process
GO:0010508	positive regulation of autophagy	IBA	biological process
GO:0032007	negative regulation of TOR signaling	IBA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	contributes to
GO:1990130	GATOR1 complex	IDA	cellular component
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0004672	protein kinase activity	IDA	molecular function
GO:0033673	negative regulation of kinase activity	IDA	biological process
GO:0034198	cellular response to amino acid starvation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Familial focal epilepsy with variable foci	KEGG:H02214
Familial focal epilepsy with variable foci	KEGG:H02214
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)