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] See more...

Aliases for SEZ6 Gene

Aliases for SEZ6 Gene

  • Seizure Related 6 Homolog 2 3 5
  • Seizure Protein 6 Homolog 3 4
  • Seizure Related 6 Homolog (Mouse) 2
  • HSEZ-6 4
  • BSRPC 3
  • SEZ-6 4
  • SEZ6 5

External Ids for SEZ6 Gene

Previous GeneCards Identifiers for SEZ6 Gene

  • GC17M027129
  • GC17M029181
  • GC17M027427
  • GC17M024306
  • GC17M027281
  • GC17M023490

Summaries for SEZ6 Gene

Entrez Gene Summary for SEZ6 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]

GeneCards Summary for SEZ6 Gene

SEZ6 (Seizure Related 6 Homolog) is a Protein Coding gene. Diseases associated with SEZ6 include Febrile Seizures and Dystonia 12. An important paralog of this gene is SEZ6L.

UniProtKB/Swiss-Prot Summary for SEZ6 Gene

  • May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity).

Gene Wiki entry for SEZ6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEZ6 Gene

Genomics for SEZ6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEZ6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J029006 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 250.7 +0.5 539 0.6 ZNF10 NFIC MXD4 REST KLF11 HOMEZ SIN3A KMT2B THAP11 KLF9 HSALNG0115542 SEZ6 HSALNG0115541 LOC105371716 PHF12 PIPOX
GH17J029004 Enhancer 0.5 Ensembl 250.7 +1.9 1869 0.9 REST EHMT2 MIER2 SIN3A ZSCAN4 MIER1 HSALNG0115542 SEZ6 HSALNG0115541 PIPOX LOC105371716 PHF12
GH17J029041 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -36.6 -36555 2.6 IKZF1 ZNF580 ATF2 POLR2A ZIC2 NFIC YY1 MXD4 ETS1 FEZF1 PIPOX ENSG00000264044 TIAF1 SUPT6H SARM1 PHF12 MYO18A SEZ6 RSKR TMEM199
GH17J028923 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +80.4 80377 4.8 ZNF600 ZNF592 ATF2 TRIM22 FEZF1 ZNF639 ZEB1 GABPA IRF4 RUNX1 HSALNG0115536 LOC101927018 PHF12 FLOT2 DHRS13 ERAL1 FAM222B SEZ6 SUPT6H NUFIP2
GH17J028861 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +137.5 137527 15.4 BCLAF1 NCOR1 ZNF600 MYC IKZF1 ZNF592 POLR2A NFIC ZIC2 MXD4 DHRS13 PHF12 NUFIP2 ENSG00000264577 KIAA0100 PROCA1 RPL23A TMEM199 SUPT6H FLOT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEZ6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEZ6

Top Transcription factor binding sites by QIAGEN in the SEZ6 gene promoter:
  • ATF
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Roaz
  • USF-1
  • USF1

Genomic Locations for SEZ6 Gene

Latest Assembly
chr17:28,954,901-29,006,440
(GRCh38/hg38)
Size:
51,540 bases
Orientation:
Minus strand

Previous Assembly
chr17:27,281,923-27,333,458
(GRCh37/hg19 by Entrez Gene)
Size:
51,536 bases
Orientation:
Minus strand

chr17:27,281,919-27,333,458
(GRCh37/hg19 by Ensembl)
Size:
51,540 bases
Orientation:
Minus strand

Genomic View for SEZ6 Gene

Genes around SEZ6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEZ6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEZ6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEZ6 Gene

Proteins for SEZ6 Gene

  • Protein details for SEZ6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53EL9-SEZ6_HUMAN
    Recommended name:
    Seizure protein 6 homolog
    Protein Accession:
    Q53EL9
    Secondary Accessions:
    • B6ZDN1
    • Q8N701
    • Q8NB57
    • Q8ND50
    • Q8TD25
    • Q96NI5
    • Q96NQ3

    Protein attributes for SEZ6 Gene

    Size:
    994 amino acids
    Molecular mass:
    107425 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK71497.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAM22213.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB70826.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB70912.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SEZ6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEZ6 Gene

Post-translational modifications for SEZ6 Gene

  • Glycosylated.
  • Glycosylation at Thr59, Thr60, Asn289, Asn399, Asn436, and Asn541
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEZ6 Gene

Domains & Families for SEZ6 Gene

Gene Families for SEZ6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SEZ6 Gene

InterPro:
Blocks:
  • CUB domain
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for SEZ6 Gene

GenScript: Design optimal peptide antigens:
  • Seizure protein 6 homolog (SEZ6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53EL9

UniProtKB/Swiss-Prot:

SEZ6_HUMAN :
  • Belongs to the SEZ6 family.
Family:
  • Belongs to the SEZ6 family.
genes like me logo Genes that share domains with SEZ6: view

Function for SEZ6 Gene

Molecular function for SEZ6 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity).

Phenotypes From GWAS Catalog for SEZ6 Gene

Gene Ontology (GO) - Molecular Function for SEZ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with SEZ6: view
genes like me logo Genes that share phenotypes with SEZ6: view

Animal Models for SEZ6 Gene

MGI Knock Outs for SEZ6:
  • Sez6 Sez6<tm1Hta>
  • Sez6 Sez6<tm1.1Sest>

Animal Models for research

  • Taconic Biosciences Mouse Models for SEZ6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEZ6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEZ6 Gene

Localization for SEZ6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEZ6 Gene

Cell membrane. Single-pass type I membrane protein. Note=Localized on dendrites and in the synaptic and postsynaptic fraction. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEZ6 gene
Compartment Confidence
plasma membrane 4
extracellular 2
endoplasmic reticulum 2
peroxisome 1
nucleus 1
endosome 1
golgi apparatus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for SEZ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SEZ6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEZ6 Gene

Pathways & Interactions for SEZ6 Gene

PathCards logo

SuperPathways for SEZ6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEZ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008344 adult locomotory behavior IEA --
GO:0021680 cerebellar Purkinje cell layer development IEA --
GO:0050773 regulation of dendrite development IEA --
GO:0060074 synapse maturation IEA --
GO:0060079 excitatory postsynaptic potential IEA --
genes like me logo Genes that share ontologies with SEZ6: view

No data available for Pathways by source and SIGNOR curated interactions for SEZ6 Gene

Drugs & Compounds for SEZ6 Gene

No Compound Related Data Available

Transcripts for SEZ6 Gene

mRNA/cDNA for SEZ6 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEZ6

Alternative Splicing Database (ASD) splice patterns (SP) for SEZ6 Gene

No ASD Table

Relevant External Links for SEZ6 Gene

GeneLoc Exon Structure for
SEZ6

Expression for SEZ6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEZ6 Gene

mRNA differential expression in normal tissues according to GTEx for SEZ6 Gene

This gene is overexpressed in Brain - Cerebellum (x8.8), Brain - Nucleus accumbens (basal ganglia) (x8.0), Brain - Cerebellar Hemisphere (x7.5), Brain - Putamen (basal ganglia) (x5.6), and Brain - Caudate (basal ganglia) (x5.4).

Protein differential expression in normal tissues from HIPED for SEZ6 Gene

This gene is overexpressed in Vitreous humor (55.8) and Cerebrospinal fluid (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SEZ6 Gene



Protein tissue co-expression partners for SEZ6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEZ6

SOURCE GeneReport for Unigene cluster for SEZ6 Gene:

Hs.21837

Evidence on tissue expression from TISSUES for SEZ6 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with SEZ6: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEZ6 Gene

Orthologs for SEZ6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEZ6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEZ6 29 30
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEZ6 29 30
  • 89.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEZ6 29 30
  • 89.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sez6 29
  • 87.53 (n)
Mouse
(Mus musculus)
Mammalia Sez6 29 16 30
  • 87.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 73 (a)
OneToMany
-- 30
  • 48 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SEZ6 30
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEZ6 29 30
  • 70.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEZ6 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sez6 29
  • 62.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii sez6 29
  • 64.88 (n)
sez6b 30
  • 48 (a)
OneToMany
sez6a 30
  • 46 (a)
OneToMany
Species where no ortholog for SEZ6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SEZ6 Gene

ENSEMBL:
Gene Tree for SEZ6 (if available)
TreeFam:
Gene Tree for SEZ6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEZ6: view image
Alliance of Genome Resources:
Additional Orthologs for SEZ6

Paralogs for SEZ6 Gene

(6) SIMAP similar genes for SEZ6 Gene using alignment to 7 proteins:

  • SEZ6_HUMAN
  • C9JFF1_HUMAN
  • H0YF95_HUMAN
  • H0YFT6_HUMAN
  • H0YFX0_HUMAN
  • H0YGK0_HUMAN
  • K7ELJ4_HUMAN
genes like me logo Genes that share paralogs with SEZ6: view

Variants for SEZ6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEZ6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs114813876 Benign: not provided 28,959,135(-) C/T
NM_178860.5(SEZ6):c.1997G>A (p.Arg666His)
MISSENSE
rs181031076 Likely Benign: not provided 28,981,953(-) G/T
NM_178860.5(SEZ6):c.142C>A (p.Pro48Thr)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs200459778 Benign: not provided 28,963,971(-) C/T
NM_178860.5(SEZ6):c.1231G>A (p.Val411Ile)
MISSENSE
rs201206867 Benign: not provided 28,959,404(-) C/T
NM_178860.5(SEZ6):c.1840G>A (p.Gly614Ser)
MISSENSE
rs201821795 Likely Benign: not provided 28,959,735(-) G/C
NM_178860.5(SEZ6):c.1734C>G (p.His578Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEZ6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEZ6 Gene

Variant ID Type Subtype PubMed ID
esv3640318 CNV loss 21293372
esv3892990 CNV loss 25118596
nsv457719 CNV loss 19166990
nsv574662 CNV loss 21841781
nsv833408 CNV loss 17160897

Variation tolerance for SEZ6 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.17; 96.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEZ6 Gene

Human Gene Mutation Database (HGMD)
SEZ6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEZ6
Leiden Open Variation Database (LOVD)
SEZ6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEZ6 Gene

Disorders for SEZ6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SEZ6 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
febrile seizures
  • seizures febrile
dystonia 12
  • dyt12
vertebral artery occlusion
  • occlusion and stenosis of vertebral artery
- elite association - COSMIC cancer census association via MalaCards
Search SEZ6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SEZ6

genes like me logo Genes that share disorders with SEZ6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEZ6 Gene

Publications for SEZ6 Gene

  1. Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. (PMID: 17086543) Yu ZL … Bao GS (Journal of neuroscience research 2007) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H. (PMID: 30309378) Paracchini L … Forloni G (Alzheimer's research & therapy 2018) 3
  5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3

Products for SEZ6 Gene

Sources for SEZ6 Gene