NPRL2 (NPR2 like, GATOR1 complex subunit)

Gene

• Entrez ID: 10641
• Gene name: NPR2 like, GATOR1 complex subunit
• Gene symbol: NPRL2
• Synonyms: FFEVF2, NPR2, NPR2L, TUSC4
• Chromosome: 3
• Chromosome location: 3p21.31

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037964	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029030	hsa-miR-26b-5p	Microarray	19088304
MIRT2055398	hsa-miR-144	CLIP-seq
MIRT2055399	hsa-miR-425	CLIP-seq
MIRT2055400	hsa-miR-4305	CLIP-seq
MIRT2055401	hsa-miR-4645-3p	CLIP-seq
MIRT2284392	hsa-miR-3908	CLIP-seq
MIRT2582344	hsa-miR-3120-3p	CLIP-seq
MIRT2582345	hsa-miR-3126-5p	CLIP-seq
MIRT2582346	hsa-miR-325	CLIP-seq
MIRT2582347	hsa-miR-3657	CLIP-seq
MIRT2284392	hsa-miR-3908	CLIP-seq
MIRT2582348	hsa-miR-4266	CLIP-seq
MIRT2582349	hsa-miR-4669	CLIP-seq
MIRT2582350	hsa-miR-4695-5p	CLIP-seq
MIRT2582351	hsa-miR-4779	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IDA	18616680
GO:0005096	Function	GTPase activator activity	IDA	23723238
GO:0005515	Function	Protein binding	IPI	18616680, 19521502, 28199315, 28514442
GO:0005765	Component	Lysosomal membrane	IDA	28199306
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006995	Process	Cellular response to nitrogen starvation	IBA	21873635
GO:0010508	Process	Positive regulation of autophagy	IBA	21873635
GO:0032007	Process	Negative regulation of TOR signaling	IBA	21873635
GO:0032007	Process	Negative regulation of TOR signaling	IMP	23723238
GO:0033673	Process	Negative regulation of kinase activity	IDA	18616680
GO:0034198	Process	Cellular response to amino acid starvation	IBA	21873635
GO:0034198	Process	Cellular response to amino acid starvation	IMP	23723238
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:1990130	Component	GATOR1 complex	IBA	21873635
GO:1990130	Component	GATOR1 complex	IDA	23723238
GO:2000785	Process	Regulation of autophagosome assembly	IBA	21873635

Other IDs

• MIM: 607072
• HGNC: 24969
• e!Ensembl: ENSG00000114388

Protein

• UniProt ID: Q8WTW4
• Protein name: GATOR1 complex protein NPRL2 (Gene 21 protein) (G21 protein) (Nitrogen permease regulator 2-like protein) (NPR2-like protein) (Tumor suppressor candidate 4)
• Protein function: Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:35338845, PubMed:38006878). In response to amino ac
• PDB: 6CES, 6CET, 7T3A, 7T3B, 7T3C, 8FW5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06218	NPR2	5 → 279	Nitrogen permease regulator 2	Family
  PF06218	NPR2	269 → 373	Nitrogen permease regulator 2	Family

• Sequence:

  MGSGCRIECIFFSEFHPTLGPKITYQVPEDFISRELFDTVQVYIITKPELQNKLITVTAM
  EKKLIGCPVCIEHKKYSRNALLFNLGFVCDAQAKTCALEPIVKKLAGYLTTLELESSFVS
  MEESKQKLVPIMTILLEELNASGRCTLPIDESNTIHLKVIEQRPDPPVAQEYDVPVFTKD
  KEDFFNSQWDLTTQQILPYIDGFRHIQKISAEADVELNLVRIAIQNLLYYGVVTLVSILQ
  YSNVYCPTPKVQDLVDDKSLQEACLSYVTKQGHKRASLRDVFQLYCSLSPGTTVRDLIGR
  HPQQLQHVDERKLIQFGLMKNLIRRLQKYPVRVTREEQSHPARLYTGCHSYDEICCKTGM
  SYHELDERLENDPNIIICWK

• Sequence length: 380

Pathways

KEGG:

mTOR signaling pathway

Reactome:

Amino acids regulate mTORC1

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Epilepsy	Epilepsy, Partial, with Variable Foci, EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2, Familial focal epilepsy with variable foci	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	26505888, 27173016, 30093711, 26505888, 27173016
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21822266

Unknown
Disease name	Disease term	dbSNP ID	References
Focal cortical dysplasia	Focal cortical dysplasia