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SEZ6 Gene

protein-coding   GIFtS: 51
GCID: GC17M027281

Seizure Related 6 Homolog (Mouse)

(Previous name: seizure related gene 6 (mouse) homolog)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Seizure Related 6 Homolog (Mouse)1 2
SEZ-62 3
hSEZ-62 3
Seizure Related Gene 6 (Mouse) Homolog1
Seizure Protein 6 Homolog2
SEZ6L5

External Ids:    HGNC: 159551   Entrez Gene: 1249252   Ensembl: ENSG000000630157   OMIM: 6070215   UniProtKB: Q53EL93   

Export aliases for SEZ6 gene to outside databases

Previous GC identifers: GC17M027129 GC17M029181 GC17M027427 GC17M024306 GC17M023490


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SEZ6 Gene:
SEZ6 (seizure related 6 homolog (mouse)) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for SEZ6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9 (See protein sequence)
Recommended Name: Seizure protein 6 homolog precursor  
Size: 994 amino acids; 107425 Da
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: 

  • Glycosylated (By similarity)1
  • Glycosylation2 at Thr59, Thr60, Asn289, Asn399, Asn436, Asn541
  • Modification sites at PhosphoSitePlus

  • See SEZ6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001092105.1  NP_001277131.1  NP_849191.3  

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

    SEZ6 Human Recombinant Protein Products:

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    OriGene Purified Protein for SEZ6
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    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

     
    Search eBioscience for Proteins for SEZ6 

     
    Search antibodies-online for proteins for SEZ6 

     
    antibodies-online peptides for SEZ6

    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
    Search ThermoFisher Antibodies for SEZ6
    antibodies-online antibodies for SEZ6 (3 products) 

    SEZ6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SEZ6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SEZ6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SEZ6
    Cloud-Clone Corp. CLIAs for SEZ6
    Search eBioscience for ELISAs for SEZ6 
    antibodies-online kits for SEZ6 (5 products) 


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

    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


    Find genes that share domains with SEZ6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 

    Find genes that share phenotypes with SEZ6           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for SEZ6

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SEZ6 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for SEZ6
    Predesigned siRNA for gene silencing in human, mouse, rat SEZ6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for 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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SEZ6 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SEZ6_HUMAN, Q53EL9: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Localized on
    dendrites and in the synaptic and postsynaptic fraction (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    endoplasmic reticulum1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043025neuronal cell body IEA--

    Find genes that share ontologies with SEZ6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEZ6
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008344adult locomotory behavior IEA--
    GO:0021680cerebellar Purkinje cell layer development IEA--
    GO:0050773regulation of dendrite development ----
    GO:0060074synapse maturation IEA--
    GO:0060079regulation of excitatory postsynaptic membrane potential IEA--

    Find genes that share ontologies with SEZ6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SEZ6 gene (3 alternative transcripts): 
    NM_001098635.1  NM_001290202.1  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:
         
    Block miRNA regulation of human, mouse, rat SEZ6 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat SEZ6
    Clone
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    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SEZ6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEZ6
      QuantiTect SYBR Green Assays in human, mouse, rat SEZ6
      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 

    Selected AceView cDNA sequences (see all 78):

    AI458144 AK096473 BM717496 AI419465 AK054913 CK820017 F02105 AL834405 
    BF594084 AA322958 AX747037 AI815414 F05862 AK091522 BU182103 AK125377 
    BM354035 AA488106 BQ187837 CR603576 BE504594 BM126773 BE047009 BQ425190 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SEZ6 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Globus Pallidus
             Substantia Nigra   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Primitive Spinal Cord
    SEZ6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEZ6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21837
        Custom PCR Arrays for SEZ6
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SEZ6 gene from Selected 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 87.32(n)1
    90.31(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) 70.68(n)
    67.25(a)
      426388  XM_424040.4  XP_424040.4 
    lizard
    (Anolis carolinensis)
    Reptilia SEZ66
    seizure related 6 homolog (mouse)
    64(a)
    1 ↔ 1
    AAWZ02041184(43-4277)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sez61 seizure related 6 homolog (mouse) 62.25(n)
    61.85(a)
      100492556  XM_004911704.1  XP_004911761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sez61 seizure related 6 homolog (mouse) 64.88(n)
    61.6(a)
      100536906  XM_003200051.2  XP_003200099.2 


    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)
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    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

    Find genes that share paralogs with SEZ6           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SEZ6 (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
    ----------
    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
    rs22007791,2
    A,H--27282136(+) CTCCAG/AAATAT 2 -- ut316Minor allele frequency- A:0.00NS EA NA 422
    rs22007801,2
    H--27282231(+) GTGAAG/AATGTT 2 -- ut314Minor allele frequency- A:0.00NS EA 416
    rs169646811,2
    C,F,H--27282236(+) GATGTT/GTGCAA 2 -- ut3115Minor allele frequency- G:0.05NA NS EA WA 1528
    rs1496790191,2
    --27282261(+) TCGGAA/GGAAAG 2 -- ut310--------
    rs22007811,2
    C,F,H--27282308(+) AATGGC/TGTGTC 2 -- ut318Minor allele frequency- T:0.00NS EA NA WA 716

    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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607021    OMIM disorders: --


    Find genes that share disorders with SEZ6           About GenesLikeMe


    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)
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    PubMed articles for SEZ6 gene, integrated from 10 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. (J. Neurosci. Res. 2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (J. Proteome Res. 2013)
    4. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 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. (Genome Res. 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. (Nature 2006)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 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. (Proc. Natl. Acad. Sci. U.S.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. (Mech. Dev. 2002)

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

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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