Seroatlas · Human Serome Atlas

SEZ6

Seizure protein 6 homolog

Also known as: SEZ6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q53EL9
Gene
SEZ6
Ensembl
ENSG00000063015
Chromosome
17
Canonical length
994 aa
Protein class
Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

994 residues, UniProt reviewed canonical sequence.

>Q53EL9|SEZ6
     1  MRPVALLLLP SLLALLAHGL SLEAPTVGKG QAPGIEETDG ELTAAPTPEQ PERGVHFVTT
    61  APTLKLLNHH PLLEEFLQEG LEKGDEELRP ALPFQPDPPA PFTPSPLPRL ANQDSRPVFT
   121  SPTPAMAAVP TQPQSKEGPW SPESESPMLR ITAPLPPGPS MAVPTLGPGE IASTTPPSRA
   181  WTPTQEGPGD MGRPWVAEVV SQGAGIGIQG TITSSTASGD DEETTTTTTI ITTTITTVQT
   241  PGPCSWNFSG PEGSLDSPTD LSSPTDVGLD CFFYISVYPG YGVEIKVQNI SLREGETVTV
   301  EGLGGPDPLP LANQSFLLRG QVIRSPTHQA ALRFQSLPPP AGPGTFHFHY QAYLLSCHFP
   361  RRPAYGDVTV TSLHPGGSAR FHCATGYQLK GARHLTCLNA TQPFWDSKEP VCIAACGGVI
   421  RNATTGRIVS PGFPGNYSNN LTCHWLLEAP EGQRLHLHFE KVSLAEDDDR LIIRNGDNVE
   481  APPVYDSYEV EYLPIEGLLS SGKHFFVELS TDSSGAAAGM ALRYEAFQQG HCYEPFVKYG
   541  NFSSSTPTYP VGTTVEFSCD PGYTLEQGSI IIECVDPHDP QWNETEPACR AVCSGEITDS
   601  AGVVLSPNWP EPYGRGQDCI WGVHVEEDKR IMLDIRVLRI GPGDVLTFYD GDDLTARVLG
   661  QYSGPRSHFK LFTSMADVTI QFQSDPGTSV LGYQQGFVIH FFEVPRNDTC PELPEIPNGW
   721  KSPSQPELVH GTVVTYQCYP GYQVVGSSVL MCQWDLTWSE DLPSCQRVTS CHDPGDVEHS
   781  RRLISSPKFP VGATVQYICD QGFVLMGSSI LTCHDRQAGS PKWSDRAPKC LLEQLKPCHG
   841  LSAPENGARS PEKQLHPAGA TIHFSCAPGY VLKGQASIKC VPGHPSHWSD PPPICRAASL
   901  DGFYNSRSLD VAKAPAASST LDAAHIAAAI FLPLVAMVLL VGGVYFYFSR LQGKSSLQLP
   961  RPRPRPYNRI TIESAFDNPT YETGSLSFAG DERI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEZ6 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.44
Highest tissue expression
110 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 110 nTPM
  • basal ganglia: 105 nTPM
  • amygdala: 30 nTPM
  • hypothalamus: 30 nTPM
  • cerebral cortex: 27 nTPM
  • hippocampal formation: 27 nTPM

Single-cell type

  • retinal amacrine cells: 71 nCPM
  • brain inhibitory neurons: 70 nCPM
  • retinal bipolar cells: 70 nCPM
  • retinal ganglion cells: 50 nCPM
  • brain excitatory neurons: 41 nCPM
  • cone photoreceptor cells: 37 nCPM

Immune cell

  • neutrophil: 2 nTPM
  • basophil: 1.1 nTPM
  • eosinophil: 0.3 nTPM
  • MAIT T-cell: 0.3 nTPM
  • memory B-cell: 0.3 nTPM
  • plasmacytoid DC: 0.3 nTPM

Brain region

  • basal ganglia: 109 nTPM
  • pons: 109 nTPM
  • cerebellum: 101 nTPM
  • amygdala: 95 nTPM
  • cerebral cortex: 70 nTPM
  • midbrain: 66 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEZ6.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 145 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.59
gnomAD pLI
0
gnomAD missense Z
1.96
DepMap mean gene effect
-0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SEZ6 as an antibody target. Whether an autoantibody or antibody against SEZ6 could matter depends on whether native SEZ6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEZ6 is annotated at the cell surface, where native SEZ6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SEZ6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SEZ6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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