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Aliases for SEZ6 Gene

Aliases for SEZ6 Gene

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

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 Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb and Febrile Seizures. An important paralog of this gene is SEZ6L.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEZ6 Gene

Genomics for SEZ6 Gene

Regulatory Elements for SEZ6 Gene

Enhancers for SEZ6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F028967 0.8 Ensembl ENCODE 12.3 +38.2 38203 2.5 PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 SEZ6 ENSG00000264577 PHF12
GH17F028965 1 Ensembl ENCODE 12.3 +40.6 40588 0.3 CTCF THRB RAD21 RARA TEAD3 ZNF121 GLIS2 ADNP SMC3 NR2F6 SEZ6 PHF12
GH17F029034 0.3 FANTOM5 11.7 -28.5 -28507 0.4 CBX3 ZNF280D NR2F2 ZNF664 ZNF610 IKZF1 TRIM24 KDM1A TRIM28 SETDB1 SEZ6 TIAF1 MYO18A NDUFS5P7
GH17F029037 1.1 FANTOM5 Ensembl ENCODE 11.7 -33.0 -32978 4.1 PKNOX1 ZNF121 ZNF366 ZNF548 EGR2 CEBPB REST NR2F2 POLR2H KLF16 TIAF1 MYO18A NUFIP2 SEZ6 ENSG00000264577 TAOK1 NDUFS5P7
GH17F029036 1.1 ENCODE 11.7 -30.2 -30248 0.1 CTCF RAD21 SEZ6 TIAF1 MYO18A NDUFS5P7
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SEZ6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEZ6 Gene

Chromosome:
17
Start:
28,954,901 bp from pter
End:
29,006,440 bp from pter
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; Positions=902, 911; Evidence={ECO:0000305}; Sequence=AAM22213.1; Type=Frameshift; Positions=902, 911; Evidence={ECO:0000305}; Sequence=BAB70826.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB70912.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SEZ6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEZ6 Gene

Post-translational modifications for SEZ6 Gene

No data available for DME Specific Peptides for SEZ6 Gene

Domains & Families for SEZ6 Gene

Gene Families for SEZ6 Gene

Protein Domains for SEZ6 Gene

Suggested Antigen Peptide Sequences for SEZ6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53EL9

UniProtKB/Swiss-Prot:

SEZ6_HUMAN :
  • Contains 2 CUB domains.
  • Belongs to the SEZ6 family.
Domain:
  • Contains 2 CUB domains.
  • Contains 5 Sushi (CCP/SCR) domains.
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).
genes like me logo Genes that share phenotypes with SEZ6: view

Animal Models for SEZ6 Gene

MGI Knock Outs for SEZ6:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEZ6

miRNA for SEZ6 Gene

miRTarBase miRNAs that target SEZ6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SEZ6 Gene COMPARTMENTS Subcellular localization image for SEZ6 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 3
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SEZ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEZ6: view

Pathways & Interactions for SEZ6 Gene

SuperPathways for SEZ6 Gene

No Data Available

Interacting Proteins for SEZ6 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312942%0d%0a9606.ENSP00000319851%0d%0a
Selected Interacting proteins: Q53EL9-SEZ6_HUMAN ENSP00000312942 for SEZ6 Gene via MINT STRING IID

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

Transcripts for SEZ6 Gene

Unigene Clusters for SEZ6 Gene

Seizure related 6 homolog (mouse):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SEZ6 Gene

GeneLoc Exon Structure for
SEZ6
ECgene alternative splicing isoforms for
SEZ6

Expression for SEZ6 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for SEZ6 Gene



Protein tissue co-expression partners for SEZ6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEZ6 Gene:

SEZ6

SOURCE GeneReport for Unigene cluster for SEZ6 Gene:

Hs.21837
genes like me logo Genes that share expression patterns with SEZ6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia SEZ6 34 35
  • 89.44 (n)
dog
(Canis familiaris)
Mammalia SEZ6 34 35
  • 89.06 (n)
rat
(Rattus norvegicus)
Mammalia Sez6 34
  • 87.53 (n)
mouse
(Mus musculus)
Mammalia Sez6 34 16 35
  • 87.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SEZ6 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEZ6 34 35
  • 70.68 (n)
lizard
(Anolis carolinensis)
Reptilia SEZ6 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6 34
  • 62.25 (n)
zebrafish
(Danio rerio)
Actinopterygii sez6 34
  • 64.88 (n)
sez6b 35
  • 48 (a)
OneToMany
sez6a 35
  • 46 (a)
OneToMany
Species where no ortholog for SEZ6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SEZ6 Gene

Paralogs for SEZ6 Gene

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

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

Variants for SEZ6 Gene

Sequence variations from dbSNP and Humsavar for SEZ6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs863223347 Likely pathogenic 28,981,409(-) ACCAC(-/TACCACCAC)CATCA intron-variant, cds-indel
rs10712201 -- 28,954,930(+) TTTTT(-/T)CCAAA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10712804 -- 28,954,930(+) ttttt(C/T)CCAAA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs11080075 -- 28,995,423(+) CTAAG(G/T)TTTCT intron-variant
rs111255430 -- 28,955,408(+) GGGCA(-/G)GAGGC intron-variant, utr-variant-3-prime

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)

Relevant External Links for SEZ6 Gene

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

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

Disorders for SEZ6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEZ6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • chromosome 17q11.2 deletion syndrome, 1.4mb
febrile seizures
  • seizures febrile
- elite association - COSMIC cancer census association via MalaCards
Search SEZ6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEZ6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Z.-L. … Bao G.-S. (J. Neurosci. Res. 2007) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins. (PMID: 23234360) Halim A. … Nilsson J. (J. Proteome Res. 2013) 4 64
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3 64
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64

Products for SEZ6 Gene

Sources for SEZ6 Gene

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