SZT2 (SZT2 subunit of KICSTOR complex)

Gene

• Entrez ID: 23334
• Gene name: SZT2 subunit of KICSTOR complex
• Gene symbol: SZT2
• Synonyms (NCBI Gene): C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138028425	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs138762270	C>T	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs139027171	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs143185010	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, downstream transcript variant, non coding transcript variant, missense variant
rs143880787	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs145577757	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs146140125	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs147748994	C>T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs150591561	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397515489	C>T	Pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, upstream transcript variant, coding sequence variant
rs397515490	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs562214305	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs745420974	C>-,CC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs746200792	TGT>-	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion, non coding transcript variant
rs747241860	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs748723710	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs752473314	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs756611351	CT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs756942804	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs765848129	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs766090540	C>A,T	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs766294629	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs767342365	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs769366055	C>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780805483	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs886041034	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886041594	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1306918506	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1553138299	C>G	Pathogenic	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553154643	C>T	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1557569831	A>G	Likely-pathogenic	Splice acceptor variant
rs1570696636	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1570733929	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042583	hsa-miR-423-3p	CLASH	23622248
MIRT715847	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT715848	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT715846	hsa-miR-4421	HITS-CLIP	19536157
MIRT715844	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT715845	hsa-miR-1237-3p	HITS-CLIP	19536157
MIRT715843	hsa-miR-1248	HITS-CLIP	19536157
MIRT715842	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715841	hsa-miR-3182	HITS-CLIP	19536157
MIRT715840	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT715839	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT715838	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT715837	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT715836	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT715835	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT715834	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT715833	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT680602	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT680601	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT680600	hsa-miR-4707-3p	HITS-CLIP	23706177
MIRT680599	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT715847	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT715848	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT715846	hsa-miR-4421	HITS-CLIP	19536157
MIRT715844	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT715845	hsa-miR-1237-3p	HITS-CLIP	19536157
MIRT715843	hsa-miR-1248	HITS-CLIP	19536157
MIRT715842	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715841	hsa-miR-3182	HITS-CLIP	19536157
MIRT715840	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT715839	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT715838	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT715837	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT715836	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT715835	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT715834	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT715833	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT680602	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT680601	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT680600	hsa-miR-4707-3p	HITS-CLIP	23706177
MIRT680599	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT1408069	hsa-miR-1827	CLIP-seq
MIRT1408070	hsa-miR-3122	CLIP-seq
MIRT1408071	hsa-miR-3165	CLIP-seq
MIRT1408072	hsa-miR-3614-5p	CLIP-seq
MIRT1408073	hsa-miR-3665	CLIP-seq
MIRT1408074	hsa-miR-3689a-3p	CLIP-seq
MIRT1408075	hsa-miR-3689c	CLIP-seq
MIRT1408076	hsa-miR-3913-5p	CLIP-seq
MIRT1408077	hsa-miR-3929	CLIP-seq
MIRT1408078	hsa-miR-4269	CLIP-seq
MIRT1408079	hsa-miR-4419b	CLIP-seq
MIRT1408080	hsa-miR-4478	CLIP-seq
MIRT1408081	hsa-miR-4640-5p	CLIP-seq
MIRT1408082	hsa-miR-4645-5p	CLIP-seq
MIRT1408083	hsa-miR-4649-3p	CLIP-seq
MIRT1408084	hsa-miR-4673	CLIP-seq
MIRT1408085	hsa-miR-4726-5p	CLIP-seq
MIRT1408086	hsa-miR-4728-5p	CLIP-seq
MIRT1408087	hsa-miR-4736	CLIP-seq
MIRT1408088	hsa-miR-4755-3p	CLIP-seq
MIRT1408089	hsa-miR-485-5p	CLIP-seq
MIRT1408090	hsa-miR-940	CLIP-seq
MIRT1408091	hsa-miR-1184	CLIP-seq
MIRT1408092	hsa-miR-1205	CLIP-seq
MIRT1408093	hsa-miR-128	CLIP-seq
MIRT739927	hsa-miR-1287	CLIP-seq
MIRT1408094	hsa-miR-181a	CLIP-seq
MIRT1408095	hsa-miR-181b	CLIP-seq
MIRT1408096	hsa-miR-181c	CLIP-seq
MIRT1408097	hsa-miR-181d	CLIP-seq
MIRT1408098	hsa-miR-2117	CLIP-seq
MIRT1408099	hsa-miR-3144-5p	CLIP-seq
MIRT739924	hsa-miR-3156-5p	CLIP-seq
MIRT1408100	hsa-miR-3158-5p	CLIP-seq
MIRT1408101	hsa-miR-3191	CLIP-seq
MIRT1408102	hsa-miR-342-5p	CLIP-seq
MIRT1408103	hsa-miR-3714	CLIP-seq
MIRT1408104	hsa-miR-4262	CLIP-seq
MIRT1408105	hsa-miR-4276	CLIP-seq
MIRT739925	hsa-miR-4474-3p	CLIP-seq
MIRT1408106	hsa-miR-4487	CLIP-seq
MIRT1408107	hsa-miR-4652-5p	CLIP-seq
MIRT1408108	hsa-miR-4664-5p	CLIP-seq
MIRT1408109	hsa-miR-4747-3p	CLIP-seq
MIRT739926	hsa-miR-4764-5p	CLIP-seq
MIRT1408110	hsa-miR-4768-5p	CLIP-seq
MIRT739923	hsa-miR-4772-5p	CLIP-seq
MIRT1408111	hsa-miR-491-5p	CLIP-seq
MIRT1408112	hsa-miR-548an	CLIP-seq
MIRT1408073	hsa-miR-3665	CLIP-seq
MIRT1921313	hsa-miR-504	CLIP-seq
MIRT1921314	hsa-miR-657	CLIP-seq
MIRT2122375	hsa-miR-139-3p	CLIP-seq
MIRT2122376	hsa-miR-2467-3p	CLIP-seq
MIRT739924	hsa-miR-3156-5p	CLIP-seq
MIRT2122377	hsa-miR-3678-3p	CLIP-seq
MIRT2122378	hsa-miR-3973	CLIP-seq
MIRT1408078	hsa-miR-4269	CLIP-seq
MIRT2122379	hsa-miR-4278	CLIP-seq
MIRT739925	hsa-miR-4474-3p	CLIP-seq
MIRT2122380	hsa-miR-4514	CLIP-seq
MIRT2122381	hsa-miR-4692	CLIP-seq
MIRT2122382	hsa-miR-4716-3p	CLIP-seq
MIRT2122383	hsa-miR-4742-5p	CLIP-seq
MIRT739923	hsa-miR-4772-5p	CLIP-seq
MIRT2122384	hsa-miR-4796-3p	CLIP-seq
MIRT2122385	hsa-miR-486-3p	CLIP-seq
MIRT2122386	hsa-miR-520g	CLIP-seq
MIRT2122387	hsa-miR-520h	CLIP-seq
MIRT1408090	hsa-miR-940	CLIP-seq
MIRT2344621	hsa-miR-1207-5p	CLIP-seq
MIRT2344622	hsa-miR-1253	CLIP-seq
MIRT2344623	hsa-miR-1254	CLIP-seq
MIRT2344624	hsa-miR-1470	CLIP-seq
MIRT2344625	hsa-miR-1825	CLIP-seq
MIRT2344626	hsa-miR-2277-5p	CLIP-seq
MIRT2344627	hsa-miR-296-3p	CLIP-seq
MIRT2344628	hsa-miR-3116	CLIP-seq
MIRT2344629	hsa-miR-3192	CLIP-seq
MIRT2344630	hsa-miR-3202	CLIP-seq
MIRT2344631	hsa-miR-3611	CLIP-seq
MIRT2344632	hsa-miR-3621	CLIP-seq
MIRT2344633	hsa-miR-3670	CLIP-seq
MIRT2344634	hsa-miR-3925-3p	CLIP-seq
MIRT2344635	hsa-miR-4300	CLIP-seq
MIRT2344636	hsa-miR-4426	CLIP-seq
MIRT2344637	hsa-miR-4461	CLIP-seq
MIRT2344638	hsa-miR-450b-3p	CLIP-seq
MIRT1408082	hsa-miR-4645-5p	CLIP-seq
MIRT2344639	hsa-miR-4647	CLIP-seq
MIRT2344640	hsa-miR-4662b	CLIP-seq
MIRT1408084	hsa-miR-4673	CLIP-seq
MIRT2344641	hsa-miR-4676-5p	CLIP-seq
MIRT2344642	hsa-miR-4695-5p	CLIP-seq
MIRT2344643	hsa-miR-4699-5p	CLIP-seq
MIRT2344644	hsa-miR-4713-3p	CLIP-seq
MIRT2344645	hsa-miR-4722-5p	CLIP-seq
MIRT2344646	hsa-miR-4724-3p	CLIP-seq
MIRT2344647	hsa-miR-4731-5p	CLIP-seq
MIRT1408087	hsa-miR-4736	CLIP-seq
MIRT2122383	hsa-miR-4742-5p	CLIP-seq
MIRT1408088	hsa-miR-4755-3p	CLIP-seq
MIRT2344648	hsa-miR-4763-3p	CLIP-seq
MIRT2344649	hsa-miR-4786-3p	CLIP-seq
MIRT2344650	hsa-miR-515-5p	CLIP-seq
MIRT2344651	hsa-miR-575	CLIP-seq
MIRT2344652	hsa-miR-580	CLIP-seq
MIRT2344653	hsa-miR-638	CLIP-seq
MIRT2344654	hsa-miR-642a	CLIP-seq
MIRT2344655	hsa-miR-766	CLIP-seq
MIRT2344656	hsa-miR-769-3p	CLIP-seq
MIRT2344657	hsa-miR-920	CLIP-seq
MIRT2395493	hsa-miR-3622a-5p	CLIP-seq
MIRT2344635	hsa-miR-4300	CLIP-seq
MIRT2395494	hsa-miR-4423-3p	CLIP-seq
MIRT2344657	hsa-miR-920	CLIP-seq
MIRT1408069	hsa-miR-1827	CLIP-seq
MIRT1408070	hsa-miR-3122	CLIP-seq
MIRT1408071	hsa-miR-3165	CLIP-seq
MIRT1408072	hsa-miR-3614-5p	CLIP-seq
MIRT1408073	hsa-miR-3665	CLIP-seq
MIRT1408074	hsa-miR-3689a-3p	CLIP-seq
MIRT1408075	hsa-miR-3689c	CLIP-seq
MIRT1408076	hsa-miR-3913-5p	CLIP-seq
MIRT1408077	hsa-miR-3929	CLIP-seq
MIRT1408079	hsa-miR-4419b	CLIP-seq
MIRT1408080	hsa-miR-4478	CLIP-seq
MIRT1408083	hsa-miR-4649-3p	CLIP-seq
MIRT1408086	hsa-miR-4728-5p	CLIP-seq
MIRT1408087	hsa-miR-4736	CLIP-seq
MIRT1408089	hsa-miR-485-5p	CLIP-seq
MIRT1408090	hsa-miR-940	CLIP-seq
MIRT1408069	hsa-miR-1827	CLIP-seq
MIRT1408070	hsa-miR-3122	CLIP-seq
MIRT1408071	hsa-miR-3165	CLIP-seq
MIRT1408072	hsa-miR-3614-5p	CLIP-seq
MIRT1408073	hsa-miR-3665	CLIP-seq
MIRT1408074	hsa-miR-3689a-3p	CLIP-seq
MIRT1408075	hsa-miR-3689c	CLIP-seq
MIRT1408076	hsa-miR-3913-5p	CLIP-seq
MIRT1408077	hsa-miR-3929	CLIP-seq
MIRT1408079	hsa-miR-4419b	CLIP-seq
MIRT1408080	hsa-miR-4478	CLIP-seq
MIRT1408083	hsa-miR-4649-3p	CLIP-seq
MIRT1408086	hsa-miR-4728-5p	CLIP-seq
MIRT1408087	hsa-miR-4736	CLIP-seq
MIRT1408089	hsa-miR-485-5p	CLIP-seq
MIRT1408090	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28199315, 32296183
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	28199315
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	28199306
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	ISS	20045724
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0009791	Process	Post-embryonic development	IEA
GO:0009791	Process	Post-embryonic development	ISS
GO:0016020	Component	Membrane	IEA
GO:0021540	Process	Corpus callosum morphogenesis	IMP	23932106
GO:0031667	Process	Response to nutrient levels	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IMP	28199306, 28199315
GO:0042149	Process	Cellular response to glucose starvation	IMP	28199306, 28199315
GO:0043473	Process	Pigmentation	IEA
GO:0061462	Process	Protein localization to lysosome	IMP	28199306
GO:0061700	Component	GATOR2 complex	IDA	28199306, 28199315
GO:0140007	Component	KICSTOR complex	IDA	28199306
GO:0140007	Component	KICSTOR complex	NAS	28199306
GO:1901668	Process	Regulation of superoxide dismutase activity	ISS	20045724
GO:1904262	Process	Negative regulation of TORC1 signaling	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	IMP	28199306, 28199315
GO:1990130	Component	GATOR1 complex	IDA	28199306, 28199315

Other IDs

• MIM: 615463
• HGNC: 29040
• e!Ensembl: ENSG00000198198

Protein

• UniProt ID: Q5T011
• Protein name: KICSTOR complex protein SZT2 (Seizure threshold 2 protein homolog)
• Protein function: As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the
• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, predominantly in the parietal and frontal cortex, as well as in dorsal root ganglia. Expressed in peripheral white blood cells. {ECO:0000269|PubMed:20045724, ECO:0000269|PubMed:23932106}.
• Sequence:

  MASERPEPEVEEAGQVFLLMKKDYRISRNVRLAWFLSHLHQTVQATPQEMLLQSEQELEV
  LSVLPPGWQPDEPVVPRPFLLVPSTRVTFLAWQYRFVIELDLSPSTGIVDDSTGEILFDE
  VFHALSRCLGGLLRPFRVPGSCIDFQPEIYVTIQAYSSIIGLQSHQVLVQGCLLDPSQRE
  VFLQQIYEQLCLFEDKVATMLQQQYDPQSQAEDQSPDSGDLLGRKVGVSMVTADLGLVSM
  IRQGILALQLLPSNSSAGIIVITDGVTSVPDVAVCETLLNQLRSGTVACSFVQVGGVYSY
  DCSFGHVPNVELMKFIAMATFGSYLSTCPEPEPGNLGLTVYHRAFLLYSFLRSGEALNPE
  YYCGSQHRLFNEHLVSASSNPALALRRKKHTEKEVPADLVSTVSVRLREGYSVREVTLAK
  GGSQLEVKLVLLWKHNMRIEYVAMAPWPLEPEGPRVTRVEVTMEGGYDILHDVSCALRQP
  IRSLYRTHVIRRFWNTLQSINQTDQMLAHLQSFSSVPEHFTLPDSTKSGVPLFYIPPGST
  TPVLSLQPSGSDSSHAQFAAYWKPVLSMDANSWQRWLHMHRLVLILEHDTPIPKHLHTPG
  SNGRYSTIQCRISHSSLTSLLRDWSSFVLVEGYSYVKLLSSAPDQPPNSFYMVRIISKAP
  CMVLRLGFPIGTPAPARHKIVSGLREEILRLRFPHRVQSKEPTPKVKRKGLGGAGGGSSP
  SKSPPVLGPQQALSDRPCLVVLHKPLDKLLIRYEKLPLDYRAPFLLTLEPPGPLPLVSGR
  SASSSLASLSRYLYHQRWLWSVPSGLAPALPLSAIAQLLSILTEVRLSEGFHFACSGEGI
  INMVLELPIQNEPPGQAAAEEKHTCVVQYILFPPHSTSTKDSFSTDDDNDVEVEALEGDS
  ELNLVTEVWVEPQYGRVGPGPGIWKHLQDLTYSEIPQALHPRDAACIGSMLSFEYLIQLC
  QSKEWGPLPPEPRVSDGLDQGGDTCVHEIPFHFDLMGLLPQCQQLQMFFLLLAREPEGVP
  FAEGSCPANDMVLCLLHSCLGQELSDREIPLTPVDQAAFLSEVLRRTCHVPGAEGPLLGV
  HGIPKEQAVGSTQATGDSAFTSLSVGLPETLKPLISAQPPQWRCYARLVNPQHVFLTFLP
  ATFSDVQRLAACGLEGPPQEETKPKFGDWSGAPSLKDLGGTGIKATKSHVPVLSVTLASD
  NAQNQGELSPPFRRDLQAYAGRQASQTESADGPRTRCPVYIYSCSLEALREQMVGMQPPQ
  APRDLIFRTQFLDHPSPSSAWMEPRYKEAANHCALLQEHAQRCYVRGLFRSLQQAQSVTS
  QDLLTAVDACEELLQEIDITPFLLALCGHTWGLPHAPPSPGPLSPGPFSSSMEEGAEPRE
  RAILASESSIETEDLSEPEFQSTRVPGIPDPGPEISLTDVCQLRGEAHGALHSVIQEKFL
  EISRLHFRTVPSNPHYFFYCPPSSRREDEGPRDTVDRKISDLEFSEAELMGEEGDTSACC
  VVTESDPELEVEYRESRESDLGPAGLDSASLSDVDTVNPDEDSFSILGGDSPTGPESFLH
  DLPPLFLHLTCSVRLRGQHSSVPVCSLPTCLGQVLSSLEGPPVGGRVPLRDLSVTLDVFM
  LTLPLEVELPTASDPQHHRSTSESSASFPRSPGQPSSLRSDDGLGPPLPPPEEERHPGLS
  NLATPHRLAIETTMNEIRWLLEDEMVGALRRGGIPQSPALHRAAAHIHSSPGRSTCLRQT
  LPLSFVFGPERSLTQFKEEFRRLHLPGHVLLEDPDSGFFFVAAGQQPGGSHGEPSSAAWA
  WHSHEDRAEGIEGETLTASPQAPGSPEDSEGVPLISLPRVPQGGSQPGPSRGLSLMSSQG
  SVDSDHLGYDGGSSGSDSEGPNDTLGEKAPFTLRTPPGPAPPQPSLSGLPGPCLPDFWLI
  VRVLQDRVEVYAHARSLIREDGGPGTECRHLQQLLVRRVGEICREVNQRLLLQDLHDSHV
  CNSLLVAESEEDLWRSETPFHSRQRAPLPSDDYAADESCAPRGYLAATMQFVPGHFSCDV
  VWGTVIRVHSRLKMGPSMGVSRAIQALRSVLNAFSVVNRKNMFVYQERATKAVYYLRLLE
  TSCSDRPWKGDALPPSLALSRSQEPIYSEEASGPRSPLDMVSSRSSDAARPVGQVDRHIQ
  LLVHGVGQAGPEITDELVRVLCRRLDEATLDVITVMLVRNCKLTPADVEFIQPPGSLPSE
  VLHLALPTSCRPWLPALAWYLRQNLLIFLHSPKYTDSNSRNHFQHPLPPQGGLPDLDIYL
  YNKPGGQGTGGKGVACITLAFVDEGGAPLSLALWPPSSPGPPDPLREEEFEQLTQVIRCP
  VVVDSSSAQNGAPRLRLDVWEKGNISIVQLEEKLRGAARQALADAIIELQLLPASLCTED
  TPTGSLRNGSLETKSSAGRASTFPPAPVPGEPVTPPSKAGRRSFWDMLSKTECGDLGSPK
  TTDDIVLDRPEDTRGRRRHKTESVRTPGGAERAPGSDSGAQRQKRRTTQLEEGEVGTLHP
  VFARVAQRWMEFMVQIGCASVSRSSAHMVSRFLLPSILSEFTALVTSMAGDTSVRIFEQH
  LGSEPEIFGPCSPGQLGPSPRPAAERHLLLLGRNFLQWRRPTQQAAKAMQRFEPGGDGSS
  GRNAPRQRLLLLEVVDKKLQLLTYNWAPDLGAALGRALVRLVQWQNARAHLIFCLLSQKL
  GLFHHYGQLDFPVRDEKEPNPFLLPTMEVETLIRSASPPLSREQGRLSGSSRGGGPLPLD
  TFPFDEALRDITAARPSSVLGPVPRPPDPVTYHGQQFLEIKMAERRELERQMKMENLFVT
  WQQRSTPATMPISAGELETLKQSSRLVHYCATAMLFDPAAWLHGPPETSGPPDGQRRHRP
  ESGSGSREAPTSCESLDVSPPGAREEPWLKELSLAFLQQYVQYLQSIGFVLVPLRPPSPA
  RSTSRPRAMAILGTEGRGSFSCPKTKTDGSPKSTSSPVTTYHLQRALPGGIILMELAFQG
  CYFCVKQFALECSRIPMGQAVNSQLSMLFTEECDKVRDLMHVHSFSYDFHLRLVHQHVLG
  AHLVLRHGYHLTTFLRHFLAHHPDGPHFGRNHIYQGTLELPTPLIAAHQLYNYVADHASS
  YHMKPLRMARPGGPEHNEYALVSAWHSSGSYLDSEGLRHQDDFDVSLLVCHCAAPFEEQG
  EAERHVLRLQFFVVLTSQRELFPRLTADMRRFRKPPRLPPEPEAPGSSAGSPGEASGLIL
  APGPAPLFPPLAAEVGMARARLAQLVRLAGGHCRRDTLWKRLFLLEPPGPDRLRLGGRLA
  LAELEELLEAVHAKSIGDIDPQLDCFLSMTVSWYQSLIKVLLSRFPQSCRHFQSPDLGTQ
  YLVVLNQKFTDCFVLVFLDSHLGKTSLTVVFREPFPVQPQDSESPPAQLVSTYHHLESVI
  NTACFTLWTRLL

• Sequence length: 3432

Pathways

Reactome:

Amino acids regulate mTORC1

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cervical cancer	Pathogenic	rs1438773569	RCV005908984	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 18	Likely pathogenic; Pathogenic	rs1306143550, rs1654854600, rs1649902998, rs2153935815, rs766341332, rs761810492, rs374964399, rs752035788, rs766090540, rs2545801238, rs2545850014, rs1197104410, rs2545827197, rs2545825608, rs773684718, rs746200792, rs769366055, rs765848129, rs756942804, rs1553138869, rs1557569831, rs145577757, rs745420974, rs397515489, rs397515490, rs886041034, rs1302034044, rs764896693, rs200178393, rs1652173183, rs552956642, rs1005930319, rs1653397925, rs1654084368, rs1653321651, rs1295389410, rs1276523236, rs1655170724	RCV001330842 RCV001420586 RCV001843594 RCV002272539 RCV003458100 RCV002507030 RCV002308505 RCV003458154 RCV003457670 RCV003340776 RCV003340949 RCV003489481 RCV003985155 RCV004555779 RCV004595103 RCV001004920 RCV003133279 RCV000664408 RCV000500500 RCV000677214 RCV001249341 RCV003457794 RCV001814237 RCV000057518 RCV000057519 RCV000057520 RCV003457923 RCV002226758 RCV003883168 RCV003446657 RCV002510590 RCV001291651 RCV001292584 RCV001292585 RCV001292586 RCV001292587 RCV001292589 RCV001292591	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic	rs2153935420	RCV001615032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1553138299, rs780805483, rs1306918506	RCV000655969 RCV000655975 RCV000655976	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SZT2-related disorder	Pathogenic; Likely pathogenic	rs1367454316, rs766341332, rs746200792, rs1570741194	RCV004728700 RCV003426232 RCV004748750 RCV004748967	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalocele	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, GENERALIZED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe hydrocephalus	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	35773235	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24324832, 29696782, 31397114, 36361881	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29665821		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31397114, 31430354, 35773235	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	29696782		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28556953		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	23932106, 28556953, 30359774, 31397114		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23932106, 28199315, 28893434, 30818181		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30818181, 31430354, 35773235, 36361881	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24324832, 27248490, 28556953, 28893434, 29696782, 31397114		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31397114, 37867425	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18	Epileptic encephalopathy	UNIPROT_DG	23932106		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	24324832		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	24324832		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	BEFREE	30359774, 31397114		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24324832, 28556953, 30359774, 30818181		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	24324832, 30818181, 36361881	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukoencephalopathy	Leukoencephalopathy	BEFREE	29696782		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	30818181		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	28893434		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	36361881	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24324832, 29696782, 31397114, 35773235, 36361881	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	30359774		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31397114		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	31397114	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	31397114	Associate	★☆☆☆☆ Found in Text Mining only