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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23334
Gene name	SZT2 subunit of KICSTOR complex
Gene symbol	SZT2
Synonyms (NCBI Gene)	C1orf84DEE18EIEE18KIAA0467KICS1SZT2ASZT2B
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

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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

189

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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

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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

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

811

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Pathogenic	rs1438773569	RCV005908984
Developmental and epileptic encephalopathy, 18	Likely pathogenic; Pathogenic	rs1306143550, rs1654854600, rs1649902998, rs2153935815, rs766341332, rs761810492, rs374964399, rs752035788, rs766090540, rs2545801238, rs2545850014, rs1197104410, rs2545827197, rs2545825608, rs773684718 View all (23 more)	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
See cases	Pathogenic	rs1302034044	RCV001420267
Seizure	Likely pathogenic	rs2153935420	RCV001615032
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1553138299, rs780805483, rs1306918506	RCV000655969 RCV000655975 RCV000655976
SZT2-related disorder	Pathogenic; Likely pathogenic	rs1367454316, rs766341332, rs746200792, rs1570741194	RCV004728700 RCV003426232 RCV004748750 RCV004748967

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs41270349	RCV005893989 RCV005900856
Cholangiocarcinoma	Benign	rs41270349	RCV005893992
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	rs376401769	RCV005898585
Colon adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs374924388, rs762235124, rs138028425	RCV005911054 RCV005911051 RCV005893649
Developmental and epileptic encephalopathy	Uncertain significance	rs1391888607, rs369627050	RCV003994273 RCV003994289
Developmental and epileptic encephalopathy, 1	Uncertain significance	rs775153972	RCV000714621
Encephalocele	Conflicting classifications of pathogenicity; Uncertain significance	rs187427261, rs761207964	RCV001257350 RCV001257351
Familial cancer of breast	Uncertain significance	rs199830565	RCV005901820
Familial pancreatic carcinoma	Benign; Likely benign	rs117106532, rs200996082	RCV005899609 RCV005901083
Gastric cancer	Uncertain significance; Benign; Likely benign	rs531871525, rs117106532	RCV005930543 RCV005899610
Generalized epilepsy	Uncertain significance	rs1060499723	RCV000449496
Global developmental delay	Uncertain significance	rs1060499723	RCV000449496
Intellectual disability	Conflicting classifications of pathogenicity	rs145882968	RCV001252126
Lung cancer	Benign	rs41270349	RCV005893993
Malignant lymphoma, large B-cell, diffuse	Benign	rs2782648	RCV005893994
Malignant tumor of esophagus	Benign	rs41270349	RCV005893990
Obesity	Uncertain significance	rs1060499723	RCV000449496
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs72883828, rs370670185, rs41270349, rs200996082	RCV005916138 RCV005930474 RCV005893991 RCV005901084
Papillary renal cell carcinoma type 1	Uncertain significance	rs769071428	RCV005910969
Sarcoma	Benign	rs116454519	RCV005893995
Severe hydrocephalus	Conflicting classifications of pathogenicity; Uncertain significance	rs187427261, rs761207964	RCV001257350 RCV001257351
Thymoma	Uncertain significance	rs1036653663	RCV005930485
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	rs777893030, rs149192929, rs138028425	RCV005932083 RCV005892395 RCV005893650
Uterine carcinosarcoma	Benign	rs116454519	RCV005893996

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)