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SEZ6L2 Gene

protein-coding   GIFtS: 54
GCID: GC16M029882

Seizure Related 6 Homolog (Mouse)-Like 2

  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)
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Aliases
Seizure Related 6 Homolog (Mouse)-Like 21 2
Type I Transmembrane Receptor (Seizure Related Protein)1
PSK-12
Seizure 6-Like Protein 22
Type I Transmembrane Receptor (Seizure-Related Protein)2
PSK3

External Ids:    HGNC: 308441   Entrez Gene: 264702   Ensembl: ENSG000001749387   UniProtKB: Q6UXD53   

Export aliases for SEZ6L2 gene to outside databases

Previous GC identifers: GC16M029789 GC16M027543


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SEZ6L2 Gene:
This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region
of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though
there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in
lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer.
Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq, Aug 2011)

GeneCards Summary for SEZ6L2 Gene:
SEZ6L2 (seizure related 6 homolog (mouse)-like 2) is a protein-coding gene. Diseases associated with SEZ6L2 include seizure disorder, and folliculitis. An important paralog of this gene is SEZ6.

UniProtKB/Swiss-Prot: SE6L2_HUMAN, Q6UXD5
Function: May contribute to specialized endoplasmic reticulum functions in neurons (By similarity)




(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:
NC_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEZ6L2 gene promoter:
         RFX1   MAZR   SREBP-1c   Lmo2   SREBP-1b   CP2   SREBP-1a   HOXA5   c-Myb   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEZ6L2 promoter sequence
   Search Chromatin IP Primers for SEZ6L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEZ6L2


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p12.1

SEZ6L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEZ6L2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M029882:  view genomic region     (about GC identifiers)

Start:
29,882,480 bp from pter      End:
29,910,868 bp from pter
Size:
28,389 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SE6L2_HUMAN, Q6UXD5 (See protein sequence)
Recommended Name: Seizure 6-like protein 2 precursor  
Size: 910 amino acids; 97560 Da
Miscellaneous: May serve as a prognostic marker for lung cancers
Secondary accessions: B7Z1N0 F5H293 H7BXQ6 Q9BW82 Q9UJ45 Q9UJ46 Q9UJ47
Alternative splicing: 6 isoforms:  Q6UXD5-1   Q6UXD5-2   Q6UXD5-3   Q6UXD5-4   Q6UXD5-5   Q6UXD5-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEZ6L2: NX_Q6UXD5

Explore proteomics data for SEZ6L2 at MOPED

Post-translational modifications: 

  • O-glycosylated with core 1 or possibly core 8 glycans1
  • Ubiquitination2 at Lys873
  • Glycosylation2 at Thr96, Thr100, Thr104, Thr105, Thr108, Asn176, Asn222, Asn247, Asn332, Asn355,
                                 Asn373, Asn473, Asn517, Asn641
  • Modification sites at PhosphoSitePlus

  • See SEZ6L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001107571.1  NP_001107572.1  NP_001230261.1  NP_001230262.1  NP_036542.1  NP_963869.2  

    ENSEMBL proteins: 
     ENSP00000319215   ENSP00000310206   ENSP00000312550   ENSP00000454654   ENSP00000458490  
     ENSP00000439412  

    SEZ6L2 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for SEZ6L2
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    SEZ6L2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for SEZ6L2


    (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 Q6UXD5

    ProtoNet protein and cluster: Q6UXD5

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


    UniProtKB/Swiss-Prot: SE6L2_HUMAN, Q6UXD5
    Similarity: Belongs to the SEZ6 family
    Similarity: Contains 3 CUB domains
    Similarity: Contains 5 Sushi (CCP/SCR) domains


    SEZ6L2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SE6L2_HUMAN, Q6UXD5
    Function: May contribute to specialized endoplasmic reticulum functions in neurons (By similarity)
    Induction: Increased expression in the majority of primary lung cancers and lung-cell lines tested

    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sez6l2):

     behavior/neurological  nervous system  normal 

    SEZ6L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SEZ6L2: Sez6l2tm1Hta Sez6l2tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEZ6L2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEZ6L2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEZ6L2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEZ6L2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SEZ6L2 (see all 11):
    hsa-miR-299-5p hsa-miR-137 hsa-miR-196a* hsa-miR-1271 hsa-miR-29b-1* hsa-miR-373* hsa-miR-1253 hsa-miR-182
    SwitchGear 3'UTR luciferase reporter plasmidSEZ6L2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SEZ6L2
    Predesigned siRNA for gene silencing in human, mouse, rat SEZ6L2

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SEZ6L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SEZ6L2 (NM_001114099)
    Sino Biological Human cDNA Clone for SEZ6L2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEZ6L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6L2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SEZ6L2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6L2


    (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
    SE6L2_HUMAN, Q6UXD5: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein (By similarity). Note=Detected on cell surface of lung-cancer
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    extracellular3
    lysosome1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043025neuronal cell body IEA--

    SEZ6L2 for ontologies           About GeneDecksing


    (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 SEZ6L2
    Interactions:

        Search GeneGlobe Interaction Network for SEZ6L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SEZ6L2 (ENSP000003125504) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNMT1ENSP000003525164STRING: ENSP00000352516
    ETV5ENSP000003068944STRING: ENSP00000306894
    FOXA1ENSP000002504484STRING: ENSP00000250448
    OASLENSP000002575704STRING: ENSP00000257570
    TK1ENSP000003016344STRING: ENSP00000301634
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008344adult locomotory behavior IEA--
    GO:0021680cerebellar Purkinje cell layer development IEA--
    GO:0060074synapse maturation IEA--
    GO:0090036regulation of protein kinase C signaling IEA--

    SEZ6L2 for ontologies           About GeneDecksing



    (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 SEZ6L2 (SE6L2)

    1 Novoseek inferred chemical compound relationship for SEZ6L2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 0 1 14763144 (1)



    SEZ6L2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SEZ6L2 gene (6 alternative transcripts): 
    NM_001114099.2  NM_001114100.2  NM_001243332.1  NM_001243333.1  NM_012410.3  NM_201575.3  

    Unigene Cluster for SEZ6L2:

    Seizure related 6 homolog (mouse)-like 2
    Hs.6314  [show with all ESTs]
    Unigene Representative Sequence: NM_001243332
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346932 ENST00000350527 ENST00000308713(uc002dup.4 uc010vec.2 uc002dur.4 uc002duq.4 uc010ved.2 uc002dus.4)
    ENST00000563118 ENST00000568407 ENST00000562159 ENST00000568380 ENST00000537485

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SEZ6L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEZ6L2 (see all 11):
    hsa-miR-299-5p hsa-miR-137 hsa-miR-196a* hsa-miR-1271 hsa-miR-29b-1* hsa-miR-373* hsa-miR-1253 hsa-miR-182
    SwitchGear 3'UTR luciferase reporter plasmidSEZ6L2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SEZ6L2
    Predesigned siRNA for gene silencing in human, mouse, rat SEZ6L2
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    OriGene ORF clones in mouse, rat for SEZ6L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SEZ6L2 (NM_001114099)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEZ6L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6L2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SEZ6L2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEZ6L2
      QuantiTect SYBR Green Assays in human, mouse, rat SEZ6L2
      QuantiFast Probe-based Assays in human, mouse, rat SEZ6L2

    Additional mRNA sequence: 

    AF131749.1 AJ245820.1 AJ245822.1 AK027676.1 AK074998.1 AK293675.1 AK299103.1 AY358404.1 
    BC000567.2 

    19 DOTS entries:

    DT.40261997  DT.100757029  DT.102841988  DT.40297021  DT.95371334  DT.120695212  DT.120696453  DT.120695756 
    DT.91830436  DT.100783439  DT.100783442  DT.95371332  DT.95371344  DT.100783441  DT.100783443  DT.95354175 
    DT.120695361  DT.120696712  DT.120697183 

    Selected AceView cDNA sequences (see all 255):

    BX422736 BU631909 BF529657 AA363950 T16643 H38986 AY358404 CK826238 
    CA454077 BX488199 AK074998 BU730405 BQ883189 BM825323 BC000567 BM757875 
    BM766623 CR622645 CA425885 BM719559 Z99410 F03602 F02068 CB215429 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEZ6L2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                                                        -                                                                                             
    SP2:                                                        -                                                                 -                           
    SP3:                          -     -                       -                                                                                             
    SP4:                                                        -           -                                                                                 
    SP5:                                                                    -                                                                                 


    ECgene alternative splicing isoforms for SEZ6L2

    (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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    SEZ6L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCACCTGCT
    SEZ6L2 Expression
    About this image


    SEZ6L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    SEZ6L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEZ6L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6314
        Custom PCR Arrays for SEZ6L2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEZ6L2
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    QuantiFast Probe-based Assays in human, mouse, rat SEZ6L2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6L2

    (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 SEZ6L2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sez6l21 , 5 seizure related 6 homolog like 21, 5 88.37(n)1
    95.99(a)1
      7 (69.25 cM)5
    2338781  NM_144926.51  NP_659175.11 
     1269505635 
    lizard
    (Anolis carolinensis)
    Reptilia SEZ6L26
    seizure related 6 homolog (mouse)-like 2
    61(a)
    1 ↔ 1
    GL343279.1(427-36900)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.246352 Xenopus laevis transcribed sequence with moderate similarity more 74.42(n)    CB180492.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sez6l21 seizure related 6 homolog like 2 60.71(n)
    56.69(a)
      557847  XM_680990.4  XP_686082.4 


    ENSEMBL Gene Tree for SEZ6L2 (if available)
    TreeFam Gene Tree for SEZ6L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEZ6L2 gene
    SEZ62  SEZ6L2  
    3 SIMAP similar genes for SEZ6L2 using alignment to 3 protein entries:     SE6L2_HUMAN (see all proteins):
    SEZ6L    SEZ6    CUBN

    SEZ6L2 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), 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 SEZ6L2 (see all 674)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491492561,2
    Cuntested130788749(+) GCAGCG/AATCCT 12 /R /C mis11Minor allele frequency- A:0.00EU 703
    rs1492939401,2
    C--29886982(+) CTTTC-/T/TT  
            
    CTTTC
    6 -- int10--------
    rs113126441,2
    C--29891650(+) AGCTAT/-TTTTT 6 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs1134437181,2
    C,F--29892184(+) CTCAAG/ATGATC 6 -- int14Minor allele frequency- A:0.13NA WA EA 360
    rs1113171781,2
    F--29895870(+) ATCGCG/ACCACT 6 -- int11Minor allele frequency- A:0.50CSA 2
    rs340320921,2
    C--29896531(-) ATTTT-/ATTT  
            
    ATTTA
    6 -- int10--------
    rs1138536671,2
    C,F--29906328(+) ATCCCG/ATCTCT 6 -- int11Minor allele frequency- A:0.00CSA 1
    rs345498191,2
    C--29907298(-) TCAAAA/-CAAAA 6 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1129081751,2
    C,F--29907568(+) CTGTGC/TGCTGC 6 -- int13Minor allele frequency- T:0.12CSA WA 121
    rs1125550021,2
    C--29909744(+) TCTTT-/TC    
       
    /TCTC
    TCTCT
    6 -- int11CSA 2

    HapMap Linkage Disequilibrium report for SEZ6L2 (29882480 - 29910868 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SEZ6L2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv103231CNV Loss16902084
    dgv2668n71CNV Loss21882294
    nsv905717CNV Loss21882294
    nsv457482CNV Loss19166990

    Human Gene Mutation Database (HGMD): SEZ6L2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEZ6L2
    DNA2.0 Custom Variant and Variant Library Synthesis for SEZ6L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    17 diseases for SEZ6L2:    
    About MalaCards
    seizure disorder    folliculitis    autism spectrum disorder    lung cancer
    adult t-cell leukemia    t-cell leukemia    systemic lupus erythematosus    lupus erythematosus
    lymphoblastic leukemia    alzheimer's disease    leukemia    colorectal cancer
    endotheliitis    cervicitis    cerebritis    pancreatitis
    neuronitis


    SEZ6L2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SEZ6L2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 16863507 (2)

    Genetic Association Database (GAD): SEZ6L2
    Human Genome Epidemiology (HuGE) Navigator: SEZ6L2 (3 documents)

    Export disorders for SEZ6L2 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

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    PubMed articles for SEZ6L2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with SEZ6L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. Characterization of SEZ6L2 cell-surface protein as a novel prognostic marker for lung cancer. (PubMed id 16863507)1, 2, 9 Ishikawa N....Nakamura Y. (Cancer Sci. 2006)
    3. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PubMed id 19260139)1, 4 Polasek O....Rudan I. (Croat. Med. J. 2009)
    4. Association and mutation analyses of 16p11.2 autism candidate genes. (PubMed id 19242545)1, 4 Kumar R.A....Christian S.L. (PLoS ONE 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. (PubMed id 23273568)1 Yang W....Lau Y.L. (Am. J. Hum. Genet. 2013)
    7. Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. (PubMed id 23006423)1 Niu N....Wang L. (BMC Cancer 2012)
    8. Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations. (PubMed id 21394203)1 Konyukh M....Bourgeron T. (PLoS ONE 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 26470 HGNC: 30844 AceView: SEZ6L2 Ensembl:ENSG00000174938 euGenes: HUgn26470
    ECgene: SEZ6L2 H-InvDB: SEZ6L2

    (According to HUGE)
    About This Section

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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 SEZ6L2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEZ6L2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SEZ6L2 gene:
    Search GeneIP for patents involving SEZ6L2

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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