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Aliases for SEZ6 Gene

Aliases for SEZ6 Gene

  • Seizure Related 6 Homolog (Mouse) 2 3
  • HSEZ-6 3 4
  • SEZ-6 3 4
  • Seizure Related Gene 6 (Mouse) Homolog 2
  • Seizure Protein 6 Homolog 3
  • SEZ6L 6

External Ids for SEZ6 Gene

Summaries for SEZ6 Gene

GeneCards Summary for SEZ6 Gene

SEZ6 (Seizure Related 6 Homolog (Mouse)) is a Protein Coding gene. 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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEZ6 Gene

Genomics for SEZ6 Gene

Genomic Location for SEZ6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEZ6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEZ6 Gene

Regulatory Elements 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

Proteomics data for SEZ6 Gene at MOPED

Post-translational modifications for SEZ6 Gene

No data available for DME Specific Peptides for SEZ6 Gene

Domains for SEZ6 Gene

Protein Domains for SEZ6 Gene

UniProtKB/Swiss-Prot:

SEZ6_HUMAN
Domain:
  • Contains 2 CUB domains.:
    • Q53EL9
  • Contains 5 Sushi (CCP/SCR) domains.:
    • Q53EL9
Family:
  • Belongs to the SEZ6 family.:
    • Q53EL9
genes like me logo Genes that share domains with SEZ6: view

No data available for Gene Families for SEZ6 Gene

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 for SEZ6 Gene

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

Animal Models for SEZ6 Gene

MGI Knock Outs for SEZ6:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting 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
extracellular 2
endoplasmic reticulum 1
lysosome 1
peroxisome 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:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SEZ6: view

Pathways 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 I2D

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 --
GO:0060074 synapse maturation IEA --
GO:0060079 regulation of excitatory postsynaptic membrane potential IEA --
genes like me logo Genes that share ontologies with SEZ6: view

No data available for Pathways by source for SEZ6 Gene

Transcripts for SEZ6 Gene

Unigene Clusters for SEZ6 Gene

Seizure related 6 homolog (mouse):
Representative Sequences:

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 (8.8), Brain - Nucleus accumbens (basal ganglia) (8.0), Brain - Cerebellar Hemisphere (7.5), Brain - Putamen (basal ganglia) (5.6), and Brain - Caudate (basal ganglia) (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SEZ6 Gene

SOURCE GeneReport for Unigene cluster for SEZ6 Gene Hs.21837

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

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 36
  • 99.66 (n)
  • 99.4 (a)
SEZ6 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEZ6 36
  • 89.44 (n)
  • 91.51 (a)
SEZ6 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEZ6 36
  • 89.06 (n)
  • 91.89 (a)
SEZ6 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sez6 36
  • 87.32 (n)
  • 90.31 (a)
Sez6 16
Sez6 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEZ6 37
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 73 (a)
OneToMany
-- 37
  • 48 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sez6 36
  • 87.53 (n)
  • 90.42 (a)
chicken
(Gallus gallus)
Aves SEZ6 36
  • 70.68 (n)
  • 67.25 (a)
SEZ6 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEZ6 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6 36
  • 62.25 (n)
  • 61.85 (a)
zebrafish
(Danio rerio)
Actinopterygii sez6 36
  • 64.88 (n)
  • 61.6 (a)
sez6a 37
  • 46 (a)
OneToMany
sez6b 37
  • 48 (a)
OneToMany
Species with no ortholog for SEZ6:
  • 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

Selected 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 MAF
rs902575 -- 28,977,692(-) CCCTA(A/C)TGAAG intron-variant
rs1272973 -- 28,976,978(-) acaga(A/T)atcat intron-variant
rs1314413 -- 28,976,927(-) gatgg(A/G)aagca intron-variant
rs1471999 -- 28,961,966(+) GCCTC(A/G)GCTTG intron-variant
rs1532174 -- 28,987,318(+) CCAGA(G/T)CCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv457719 CNV Loss 19166990
nsv833408 CNV Loss 17160897

Relevant External Links for SEZ6 Gene

HapMap Linkage Disequilibrium report
SEZ6
Human Gene Mutation Database (HGMD)
SEZ6

Disorders for SEZ6 Gene

No disorders were found for SEZ6 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U. … Wanker E.E. (Cell 2005) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3

Products for SEZ6 Gene

Sources for SEZ6 Gene

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