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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEZ6 Gene

protein-coding   GIFtS: 50
GCID: GC17M027281

Seizure Related 6 Homolog (Mouse)

(Previous name: seizure related gene 6 (mouse) homolog)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Seizure Related 6 Homolog (Mouse)1 2
SEZ-62 3
hSEZ-62 3
Seizure Related Gene 6 (Mouse) Homolog1
Seizure Protein 6 Homolog2

External Ids:    HGNC: 159551   Entrez Gene: 1249252   Ensembl: ENSG000000630157   UniProtKB: Q53EL93   

Export aliases for SEZ6 gene to outside databases

Previous GC identifers: GC17M027129 GC17M029181 GC17M027427 GC17M024306 GC17M023490


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SEZ6 Gene: 
SEZ6 (seizure related 6 homolog (mouse)) is a protein-coding gene. Diseases associated with SEZ6 include febrile seizures, and neuronitis. An important paralog of this gene is SEZ6L2.

UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9
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)

Gene Wiki entry for SEZ6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010799.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEZ6 gene promoter:
         E2F-4   E2F-3a   USF1   E2F-5   E2F-2   Roaz   E2F   E2F-1   USF-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEZ6 promoter sequence
   Search SABiosciences Chromatin IP Primers for SEZ6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEZ6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

SEZ6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEZ6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M027281:  view genomic region     (about GC identifiers)

Start:
27,281,919 bp from pter      End:
27,333,458 bp from pter
Size:
51,540 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9 (See protein sequence)
Recommended Name: Seizure protein 6 homolog precursor  
Size: 994 amino acids; 107425 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Localized on
dendrites and in the synaptic and postsynaptic fraction (By similarity)
Sequence caution: Sequence=AAK71497.1; Type=Frameshift; Positions=902, 911; Sequence=AAM22213.1; Type=Frameshift;
Positions=902, 911; Sequence=BAB70826.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB70912.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B6ZDN1 Q8N701 Q8NB57 Q8ND50 Q8TD25 Q96NI5 Q96NQ3
Alternative splicing: 4 isoforms:  Q53EL9-1   Q53EL9-2   Q53EL9-3   Q53EL9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEZ6: NX_Q53EL9

Explore proteomics data for SEZ6 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53EL9

  • SEZ6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEZ6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001092105.1  NP_849191.3  

    ENSEMBL proteins: 
     ENSP00000353440   ENSP00000437650   ENSP00000312942   ENSP00000440764   ENSP00000440216  
     ENSP00000403784   ENSP00000443589   ENSP00000466107   ENSP00000337407  

    Human Recombinant Protein Products for SEZ6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for SEZ6
    OriGene Protein Over-expression Lysate for SEZ6
    OriGene MassSpec for SEZ6 
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    GenScript Custom Purified and Recombinant Proteins Services for SEZ6
    Novus Biologicals SEZ6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SEZ6 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0043197dendritic spine IEA--
    GO:0043198dendritic shaft IEA--

    SEZ6 for ontologies           About GeneDecksing



    SEZ6 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SEZ6 Antibodies
    Abcam antibodies for SEZ6
    Cloud-Clone Corp. Antibodies for SEZ6 
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    LSBio Antibodies in human, mouse, rat for SEZ6 

    Assay Products for SEZ6: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SEZ6 
    Cloud-Clone Corp. CLIAs for SEZ6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000859 CUB_dom
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry Q53EL9

    ProtoNet protein and cluster: Q53EL9

    2 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000859 CUB domain


    UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9
    Similarity: Belongs to the SEZ6 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 5 Sushi (CCP/SCR) domains


    SEZ6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEZ6_HUMAN, Q53EL9
    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:
         1 GenomeRNAi human phenotype for SEZ6:

     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sez6):
     behavior/neurological  nervous system  normal 

    SEZ6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SEZ6: Sez6tm1.1Sest Sez6tm1Hta

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEZ6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SEZ6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEZ6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEZ6 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEZ6
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SEZ6 (see all 21):
    hsa-miR-323-3p hsa-miR-330-5p hsa-miR-520d-5p hsa-miR-374c hsa-miR-9 hsa-miR-149 hsa-miR-654-5p hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidSEZ6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SEZ6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEZ6

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of SEZ6

    Clone
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    OriGene clones in human, mouse for SEZ6 (see all 11)
    OriGene ORF clones in mouse, rat for SEZ6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): SEZ6 (NM_001184775)
    Sino Biological Human cDNA Clone for SEZ6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEZ6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6
    Sirion Biotech Customized lentivirus for stable overexpression of SEZ6 
                         Customized lentivirus expression plasmids for stable overexpression of SEZ6 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SEZ6
    Search LifeMap BioReagents cell lines for SEZ6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEZ6

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SEZ6 (Q53EL92, 3 ENSP000003534404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHDHQ8NE622, 3, ENSP000003198514MINT-8252527 I2D: score=2 STRING: ENSP00000319851
    TNK2Q079122, 3, ENSP000003713414MINT-64706 I2D: score=3 STRING: ENSP00000371341
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0050773regulation of dendrite development ----
    GO:0060079regulation of excitatory postsynaptic membrane potential IEA--
    GO:1900006positive regulation of dendrite development IEA--
    GO:2000171negative regulation of dendrite development IEA--

    SEZ6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEZ6

    Search CenterWatch for drugs/clinical trials and news about SEZ6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEZ6 gene (2 alternative transcripts): 
    NM_001098635.1  NM_178860.4  

    Unigene Cluster for SEZ6:

    Seizure related 6 homolog (mouse)
    Hs.21837  [show with all ESTs]
    Unigene Representative Sequence: AF502129
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360295 ENST00000540632 ENST00000317338(uc002hdp.2 uc002hdq.1)
    ENST00000540419 ENST00000535262 ENST00000442608(uc002hdm.2 uc010cry.1)
    ENST00000544224 ENST00000539265 ENST00000585644 ENST00000335960(uc010crz.1)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEZ6
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SEZ6 (see all 21):
    hsa-miR-323-3p hsa-miR-330-5p hsa-miR-520d-5p hsa-miR-374c hsa-miR-9 hsa-miR-149 hsa-miR-654-5p hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidSEZ6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SEZ6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEZ6
    Clone
    Products:
         
    OriGene clones in human, mouse for SEZ6 (see all 11)
    OriGene ORF clones in mouse, rat for SEZ6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): SEZ6 (NM_001184775)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEZ6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6
    Sirion Biotech Customized lentivirus for stable overexpression of SEZ6 
                         Customized lentivirus expression plasmids for stable overexpression of SEZ6 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SEZ6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEZ6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEZ6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEZ6

    Additional mRNA sequence: 

    AF502129.1 AF502130.1 AK054913.1 AK055383.1 AK091522.1 AK096473.1 AK125377.1 AK223620.1 
    AL834405.1 AY038048.1 BC069260.1 

    7 DOTS entries:

    DT.112039  DT.424860  DT.100021333  DT.120953596  DT.120953612  DT.95249665  DT.92415039 

    24/78 AceView cDNA sequences (see all 78):

    AI815414 AA488106 AA322958 AK096473 AI419465 CK820017 AX747037 BM354035 
    AK125377 BU182103 F02105 AI458144 AK054913 AL834405 F05862 AK091522 
    BQ187837 BF594084 CR603576 BM717496 AY038048 AI654790 BX431180 BM127083 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEZ6 expression in normal human tissues (normalized intensities)      SEZ6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SEZ6 Expression
    About this image


    SEZ6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Globus Pallidus
             Substantia Nigra   
     
     Neuron (Nervous System)    fully expand to see all 2 entries
             Human Neuron (HN)   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Primitive Spinal Cord

    See SEZ6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEZ6

    SOURCE GeneReport for Unigene cluster: Hs.21837
        SABiosciences Custom PCR Arrays for SEZ6
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEZ6
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEZ6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SEZ6 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sez61 , 5 seizure related gene 61, 5 87.43(n)1
    90.72(a)1
      11 (46.74 cM)5
    203701  NM_021286.31  NP_067261.21 
     779308005 
    chicken
    (Gallus gallus)
    Aves SEZ61 seizure related 6 homolog (mouse) 70.18(n)
    67.23(a)
      426388  XM_424040.3  XP_424040.3 
    lizard
    (Anolis carolinensis)
    Reptilia SEZ66
    Uncharacterized protein
    65(a)
    1 ↔ 1
    AAWZ02041184(43-4277)
    zebrafish
    (Danio rerio)
    Actinopterygii SEZ66
    sez6a6
    seizure related 6 homolog a
    48(a)
    45(a)
    1 ↔ many
    1 ↔ many
    15(23566726-23902584)
    10(38161514-38260443)


    ENSEMBL Gene Tree for SEZ6 (if available)
    TreeFam Gene Tree for SEZ6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEZ6 gene
    SEZ6L22  SEZ6L2  
    6 SIMAP similar genes for SEZ6 using alignment to 7 protein entries:     SEZ6_HUMAN (see all proteins):
    SEZ6L    SEZ6L2    NRP2    CUBN    NRP1    SCUBE2

    SEZ6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/946 SNPs in SEZ6 are shown (see all 946)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0440494
    ----see VAR_0440492 A V mis40--------
    VAR_0440514
    ----see VAR_0440512 V A mis40--------
    VAR_0440534
    ----see VAR_0440532 L V mis40--------
    VAR_0440484
    ----see VAR_0440482 V M mis40--------
    VAR_0440524
    ----see VAR_0440522 Y N mis40--------
    rs124511901,2
    C,F,A,H--27281877(+) TATCTC/GCCACC 2 -- int110Minor allele frequency- G:0.14NA WA CSA EA 374
    rs1831934911,2
    --27281887(+) CTCCCA/GTCCCT 2 -- int10--------
    rs107122011,2
    C--27281923(+) tttttT/-ttttt 2 -- ut311Minor allele frequency- -:0.50NA 2
    rs3741538091,2
    C,F--27281948(+) tttttT/-CCAAA 2 -- ut312Minor allele frequency- -:0.50NA 4
    rs47954781,2
    C,A,H--27281980(+) CAACAG/AAAATA 2 -- ut31 ese35Minor allele frequency- A:0.00NS EA NA 418

    HapMap Linkage Disequilibrium report for SEZ6 (27281919 - 27333458 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SEZ6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833408CNV Loss17160897
    nsv457719CNV Loss19166990


    Human Gene Mutation Database (HGMD): SEZ6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SEZ6
    DNA2.0 Custom Variant and Variant Library Synthesis for SEZ6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for SEZ6:    About MalaCards
    febrile seizures    neuronitis


    SEZ6 for disorders           About GeneDecksing


    Export disorders for SEZ6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEZ6 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SEZ6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. (PubMed id 17086543)1, 2, 3 Yu Z.L....Bao G.S. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins. (PubMed id 23234360)2 Halim A.... Nilsson J. (2013)
    4. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. (PubMed id 12351182)1 Kim M.H....Tan S.S. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 124925 HGNC: 15955 AceView: SEZ6 Ensembl:ENSG00000063015 euGenes: HUgn124925
    ECgene: SEZ6 H-InvDB: SEZ6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEZ6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEZ6 gene:
    Search GeneIP for patents involving SEZ6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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