Seroatlas · Human Serome Atlas

SZT2

KICSTOR complex protein SZT2

Also known as: C1orf84, FLJ10387, FLJ34502, KIAA0467, KICS1, RP11-506B15.1, SZT2_HUMAN, SZT2A, SZT2B

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5T011
Gene: SZT2
Ensembl: ENSG00000198198
Chromosome: 1
Canonical length: 3432 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Actin filaments

OverviewNCBI 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 increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]

Canonical amino-acid sequenceUniProt

3432 residues, UniProt reviewed canonical sequence.

>Q5T011|SZT2
     1  MASERPEPEV EEAGQVFLLM KKDYRISRNV RLAWFLSHLH QTVQATPQEM LLQSEQELEV
    61  LSVLPPGWQP DEPVVPRPFL LVPSTRVTFL AWQYRFVIEL DLSPSTGIVD DSTGEILFDE
   121  VFHALSRCLG GLLRPFRVPG SCIDFQPEIY VTIQAYSSII GLQSHQVLVQ GCLLDPSQRE
   181  VFLQQIYEQL CLFEDKVATM LQQQYDPQSQ AEDQSPDSGD LLGRKVGVSM VTADLGLVSM
   241  IRQGILALQL LPSNSSAGII VITDGVTSVP DVAVCETLLN QLRSGTVACS FVQVGGVYSY
   301  DCSFGHVPNV ELMKFIAMAT FGSYLSTCPE PEPGNLGLTV YHRAFLLYSF LRSGEALNPE
   361  YYCGSQHRLF NEHLVSASSN PALALRRKKH TEKEVPADLV STVSVRLREG YSVREVTLAK
   421  GGSQLEVKLV LLWKHNMRIE YVAMAPWPLE PEGPRVTRVE VTMEGGYDIL HDVSCALRQP
   481  IRSLYRTHVI RRFWNTLQSI NQTDQMLAHL QSFSSVPEHF TLPDSTKSGV PLFYIPPGST
   541  TPVLSLQPSG SDSSHAQFAA YWKPVLSMDA NSWQRWLHMH RLVLILEHDT PIPKHLHTPG
   601  SNGRYSTIQC RISHSSLTSL LRDWSSFVLV EGYSYVKLLS SAPDQPPNSF YMVRIISKAP
   661  CMVLRLGFPI GTPAPARHKI VSGLREEILR LRFPHRVQSK EPTPKVKRKG LGGAGGGSSP
   721  SKSPPVLGPQ QALSDRPCLV VLHKPLDKLL IRYEKLPLDY RAPFLLTLEP PGPLPLVSGR
   781  SASSSLASLS RYLYHQRWLW SVPSGLAPAL PLSAIAQLLS ILTEVRLSEG FHFACSGEGI
   841  INMVLELPIQ NEPPGQAAAE EKHTCVVQYI LFPPHSTSTK DSFSTDDDND VEVEALEGDS
   901  ELNLVTEVWV EPQYGRVGPG PGIWKHLQDL TYSEIPQALH PRDAACIGSM LSFEYLIQLC
   961  QSKEWGPLPP EPRVSDGLDQ GGDTCVHEIP FHFDLMGLLP QCQQLQMFFL LLAREPEGVP
  1021  FAEGSCPAND MVLCLLHSCL GQELSDREIP LTPVDQAAFL SEVLRRTCHV PGAEGPLLGV
  1081  HGIPKEQAVG STQATGDSAF TSLSVGLPET LKPLISAQPP QWRCYARLVN PQHVFLTFLP
  1141  ATFSDVQRLA ACGLEGPPQE ETKPKFGDWS GAPSLKDLGG TGIKATKSHV PVLSVTLASD
  1201  NAQNQGELSP PFRRDLQAYA GRQASQTESA DGPRTRCPVY IYSCSLEALR EQMVGMQPPQ
  1261  APRDLIFRTQ FLDHPSPSSA WMEPRYKEAA NHCALLQEHA QRCYVRGLFR SLQQAQSVTS
  1321  QDLLTAVDAC EELLQEIDIT PFLLALCGHT WGLPHAPPSP GPLSPGPFSS SMEEGAEPRE
  1381  RAILASESSI ETEDLSEPEF QSTRVPGIPD PGPEISLTDV CQLRGEAHGA LHSVIQEKFL
  1441  EISRLHFRTV PSNPHYFFYC PPSSRREDEG PRDTVDRKIS DLEFSEAELM GEEGDTSACC
  1501  VVTESDPELE VEYRESRESD LGPAGLDSAS LSDVDTVNPD EDSFSILGGD SPTGPESFLH
  1561  DLPPLFLHLT CSVRLRGQHS SVPVCSLPTC LGQVLSSLEG PPVGGRVPLR DLSVTLDVFM
  1621  LTLPLEVELP TASDPQHHRS TSESSASFPR SPGQPSSLRS DDGLGPPLPP PEEERHPGLS
  1681  NLATPHRLAI ETTMNEIRWL LEDEMVGALR RGGIPQSPAL HRAAAHIHSS PGRSTCLRQT
  1741  LPLSFVFGPE RSLTQFKEEF RRLHLPGHVL LEDPDSGFFF VAAGQQPGGS HGEPSSAAWA
  1801  WHSHEDRAEG IEGETLTASP QAPGSPEDSE GVPLISLPRV PQGGSQPGPS RGLSLMSSQG
  1861  SVDSDHLGYD GGSSGSDSEG PNDTLGEKAP FTLRTPPGPA PPQPSLSGLP GPCLPDFWLI
  1921  VRVLQDRVEV YAHARSLIRE DGGPGTECRH LQQLLVRRVG EICREVNQRL LLQDLHDSHV
  1981  CNSLLVAESE EDLWRSETPF HSRQRAPLPS DDYAADESCA PRGYLAATMQ FVPGHFSCDV
  2041  VWGTVIRVHS RLKMGPSMGV SRAIQALRSV LNAFSVVNRK NMFVYQERAT KAVYYLRLLE
  2101  TSCSDRPWKG DALPPSLALS RSQEPIYSEE ASGPRSPLDM VSSRSSDAAR PVGQVDRHIQ
  2161  LLVHGVGQAG PEITDELVRV LCRRLDEATL DVITVMLVRN CKLTPADVEF IQPPGSLPSE
  2221  VLHLALPTSC RPWLPALAWY LRQNLLIFLH SPKYTDSNSR NHFQHPLPPQ GGLPDLDIYL
  2281  YNKPGGQGTG GKGVACITLA FVDEGGAPLS LALWPPSSPG PPDPLREEEF EQLTQVIRCP
  2341  VVVDSSSAQN GAPRLRLDVW EKGNISIVQL EEKLRGAARQ ALADAIIELQ LLPASLCTED
  2401  TPTGSLRNGS LETKSSAGRA STFPPAPVPG EPVTPPSKAG RRSFWDMLSK TECGDLGSPK
  2461  TTDDIVLDRP EDTRGRRRHK TESVRTPGGA ERAPGSDSGA QRQKRRTTQL EEGEVGTLHP
  2521  VFARVAQRWM EFMVQIGCAS VSRSSAHMVS RFLLPSILSE FTALVTSMAG DTSVRIFEQH
  2581  LGSEPEIFGP CSPGQLGPSP RPAAERHLLL LGRNFLQWRR PTQQAAKAMQ RFEPGGDGSS
  2641  GRNAPRQRLL LLEVVDKKLQ LLTYNWAPDL GAALGRALVR LVQWQNARAH LIFCLLSQKL
  2701  GLFHHYGQLD FPVRDEKEPN PFLLPTMEVE TLIRSASPPL SREQGRLSGS SRGGGPLPLD
  2761  TFPFDEALRD ITAARPSSVL GPVPRPPDPV TYHGQQFLEI KMAERRELER QMKMENLFVT
  2821  WQQRSTPATM PISAGELETL KQSSRLVHYC ATAMLFDPAA WLHGPPETSG PPDGQRRHRP
  2881  ESGSGSREAP TSCESLDVSP PGAREEPWLK ELSLAFLQQY VQYLQSIGFV LVPLRPPSPA
  2941  RSTSRPRAMA ILGTEGRGSF SCPKTKTDGS PKSTSSPVTT YHLQRALPGG IILMELAFQG
  3001  CYFCVKQFAL ECSRIPMGQA VNSQLSMLFT EECDKVRDLM HVHSFSYDFH LRLVHQHVLG
  3061  AHLVLRHGYH LTTFLRHFLA HHPDGPHFGR NHIYQGTLEL PTPLIAAHQL YNYVADHASS
  3121  YHMKPLRMAR PGGPEHNEYA LVSAWHSSGS YLDSEGLRHQ DDFDVSLLVC HCAAPFEEQG
  3181  EAERHVLRLQ FFVVLTSQRE LFPRLTADMR RFRKPPRLPP EPEAPGSSAG SPGEASGLIL
  3241  APGPAPLFPP LAAEVGMARA RLAQLVRLAG GHCRRDTLWK RLFLLEPPGP DRLRLGGRLA
  3301  LAELEELLEA VHAKSIGDID PQLDCFLSMT VSWYQSLIKV LLSRFPQSCR HFQSPDLGTQ
  3361  YLVVLNQKFT DCFVLVFLDS HLGKTSLTVV FREPFPVQPQ DSESPPAQLV STYHHLESVI
  3421  NTACFTLWTR LL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SZT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 6.1 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 6.1 nTPM
testis: 5.8 nTPM
thyroid gland: 5.8 nTPM
bone marrow: 5.7 nTPM
skin: 5.6 nTPM
parathyroid gland: 5.3 nTPM

Single-cell type

epicardial cells: 168 nCPM
cardiomyocytes: 116 nCPM
adipocytes: 99 nCPM
myonuclei: 71 nCPM
cone photoreceptor cells: 66 nCPM
erythrocyte progenitors: 58 nCPM

Immune cell

basophil: 1.5 nTPM
eosinophil: 1.5 nTPM
neutrophil: 1.2 nTPM
plasmacytoid DC: 0.9 nTPM
MAIT T-cell: 0.8 nTPM
classical monocyte: 0.5 nTPM

Brain region

white matter: 22 nTPM
cerebral cortex: 21 nTPM
cerebellum: 19 nTPM
medulla oblongata: 19 nTPM
thalamus: 19 nTPM
pons: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SZT2.

Disease | AllUniProt

Conditions SZT2 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 18 (DEE18) MIM:615476

Disease | GeneticClinVar

190 pathogenic / likely-pathogenic of 3,590 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 18
Inborn genetic diseases
SZT2-related disorder
Self-limited epilepsy with centrotemporal spikes
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.41
gnomAD pLI: 0
gnomAD missense Z: 2.6
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

cellular response to amino acid starvation
cellular response to glucose starvation
central nervous system development
corpus callosum morphogenesis
negative regulation of TORC1 signaling
pigmentation
post-embryonic development
protein localization to lysosome
regulation of superoxide dismutase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein SZT2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SZT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SZT2 as an antibody target. Whether an autoantibody or antibody against SZT2 could matter depends on whether native SZT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SZT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SZT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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