Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23334
Gene name Gene Name - the full gene name approved by the HGNC.	SZT2 subunit of KICSTOR complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SZT2
Synonyms (NCBI Gene) Gene synonyms aliases	C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(189)

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

Show/Hide all(27)

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

MIM	HGNC	e!Ensembl
615463	29040	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

Family and domains

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

Interactions

View interactions

	Reactome
			Amino acids regulate mTORC1

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 18	rs746200792, rs769366055, rs765848129, rs756942804, rs1553138869, rs1557569831, rs145577757, rs397515489, rs745420974, rs397515490, rs1302034044, rs886041034, rs766090540	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Epileptic encephalopathy	undetermined early-onset epileptic encephalopathy	N/A	N/A	GenCC
Hypertension	Hypertension (confirmatory factor analysis Factor 12), Hypertension	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	35773235
Anorchia	Associate	29696782
Brain Diseases	Associate	24324832, 29696782, 31397114, 36361881
Developmental Disabilities	Associate	31397114, 31430354, 35773235
Disease	Associate	31430354
Drug Resistant Epilepsy	Associate	31397114
Epilepsy	Associate	30818181, 31430354, 35773235, 36361881
Epileptic Encephalopathy Early Infantile 3	Associate	31397114, 37867425
Hereditary Central Nervous System Demyelinating Diseases	Associate	29696782
Heredodegenerative Disorders Nervous System	Associate	31430354, 36361881
Intellectual Disability	Associate	24324832, 30818181, 36361881
Leukoencephalopathies	Associate	29696782
Megalencephaly	Associate	29696782, 30818181, 31430354, 35773235
Psychomotor Disorders	Associate	36361881
Seizures	Associate	24324832, 29696782, 31397114, 35773235, 36361881
Status Epilepticus	Associate	31397114
Temtamy syndrome	Associate	31430354
Thakker Donnai syndrome	Associate	36361881
Tuberous Sclerosis	Associate	31397114

SZT2 (SZT2 subunit of KICSTOR complex)