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CNTN2 Gene

protein-coding   GIFtS: 64
GCID: GC01P205012

Contactin 2 (Axonal)


(Previous symbols: TAX, AXT)
  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
Contactin 2 (Axonal)1 2     TAG-12
AXT1 2 3     Axonin-1 Cell Adhesion Molecule2
TAX1 2 5     Contactin 2 (Transiently Expressed)2
TAX12 3 5     contactin-22
Axonal Glycoprotein TAG-12 3     Transiently-Expressed Axonal Glycoprotein2
Transient Axonal Glycoprotein 12 3     Axonin-13
TAX-12 3     TAG13
FAME52 5     

External Ids:    HGNC: 21721   Entrez Gene: 69002   Ensembl: ENSG000001841447   OMIM: 1901975   UniProtKB: Q022463   

Export aliases for CNTN2 gene to outside databases

Previous GC identifers: GC01P202738 GC01P200473 GC01P201372 GC01P202189 GC01P201743 GC01P203278 GC01P176177


(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 CNTN2 Gene:
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a
glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule.
It may play a role in the formation of axon connections in the developing nervous system. It may also be involved
in glial tumorigenesis and may provide a potential target for therapeutic intervention. (provided by RefSeq, Jul
2008)

GeneCards Summary for CNTN2 Gene:
CNTN2 (contactin 2 (axonal)) is a protein-coding gene. Diseases associated with CNTN2 include human t-cell leukemia virus type 2, and human t-cell leukemia virus type 1. GO annotations related to this gene include glycoprotein binding and identical protein binding. An important paralog of this gene is CHL1.

UniProtKB/Swiss-Prot: CNTN2_HUMAN, Q02246
Function: In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal
domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be
involved in cell adhesion

Gene Wiki entry for CNTN2 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNTN2 gene promoter:
         AP-1   AML1a   ATF-2   NRSF form 1   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTN2 promoter sequence
   Search Chromatin IP Primers for CNTN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNTN2


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

CNTN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTN2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P205012:  view genomic region     (about GC identifiers)

Start:
205,012,325 bp from pter      End:
205,047,627 bp from pter
Size:
35,303 bases      Orientation:
plus 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: CNTN2_HUMAN, Q02246 (See protein sequence)
Recommended Name: Contactin-2 precursor  
Size: 1040 amino acids; 113393 Da
1 PDB 3D structure from and Proteopedia for CNTN2:
2OM5 (3D)    
Secondary accessions: P78432 Q5T054

Explore the universe of human proteins at neXtProt for CNTN2: NX_Q02246

Explore proteomics data for CNTN2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn76, Asn198, Asn204, Asn461, Asn477, Asn498, Asn525, Asn830, Asn904, Asn918,
                                 Asn940

  • See CNTN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005067.1  
    ENSEMBL proteins: 
     ENSP00000330633  
    Reactome Protein details: Q02246

    CNTN2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for CNTN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q02246

    ProtoNet protein and cluster: Q02246

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature


    UniProtKB/Swiss-Prot: CNTN2_HUMAN, Q02246
    Similarity: Belongs to the immunoglobulin superfamily. Contactin family
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 6 Ig-like C2-type (immunoglobulin-like) domains


    CNTN2 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: CNTN2_HUMAN, Q02246
    Function: In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal
    domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be
    involved in cell adhesion

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IEA--
    GO:0005515protein binding ----
    GO:0030246carbohydrate binding IEA--
    GO:0042802identical protein binding TAS12963709
    GO:0043621protein self-association IEA--
         
    CNTN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNTN2:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cntn2):
     behavior/neurological  limbs/digits/tail  nervous system 

    CNTN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CNTN2: Cntn2tm2Furl Cntn2tm1Fuka

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNTN2
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    hsa-miR-765 hsa-miR-128 hsa-miR-3653 hsa-miR-30d hsa-miR-449a hsa-miR-30a hsa-miR-3658 hsa-miR-155*
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    (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
    CNTN2_HUMAN, Q02246: Cell membrane; Lipid-anchor, GPI-anchor. Note=Attached to the neuronal membrane by a
    GPI-anchor and is also released from neurons
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ISS--
    GO:0005887integral component of plasma membrane TAS8425542
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0009986cell surface IEA--
    GO:0030424axon ----

    CNTN2 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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    SuperPaths for CNTN2 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    NrCAM interactions0.00
    2NCAM signaling for neurite out-growth
    NCAM1 interactions0.59
    NCAM signaling for neurite out-growth0.59
    3Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for CNTN2
        L1CAM interactions
    NCAM1 interactions
    NrCAM interactions


    1 Kegg Pathway  (Kegg details for CNTN2):
        Cell adhesion molecules (CAMs)


    CNTN2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CNTN2
    Interactions:

        GeneGlobe Interaction Network for CNTN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CNTN2 (Q022462, 3 ENSP000003306334) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K7O433182, 3, ENSP000003583354MINT-4652670 I2D: score=1 STRING: ENSP00000358335
    CNTN1Q128603, ENSP000003256604I2D: score=3 STRING: ENSP00000325660
    NFYBP252083, ENSP000002400554I2D: score=3 STRING: ENSP00000240055
    CDK2P249413, ENSP000002669704I2D: score=1 STRING: ENSP00000266970
    CHUKO151113, ENSP000003594244I2D: score=1 STRING: ENSP00000359424
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0001764neuron migration IEA--
    GO:0007155cell adhesion IEA--
    GO:0007411axon guidance TAS--
    GO:0007413axonal fasciculation IEA--

    CNTN2 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 CNTN2

    Selected Novoseek inferred chemical compound relationships for CNTN2 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 51.7 18 16920823 (2), 8679308 (1), 10702386 (1), 10233947 (1) (see all 15)
    chloramphenicol 36.9 11 2293664 (2), 7579405 (1), 9052856 (1), 1768653 (1) (see all 10)
    neurocan 35.8 5 8663515 (3), 11766883 (1)
    leucine 34.8 14 7666522 (2), 8628284 (2), 10906125 (1), 9190894 (1) (see all 10)
    ionomycin 18.8 10 8662878 (1), 17145747 (1), 9190210 (1), 10381170 (1) (see all 6)
    alpha-amanitin 18.4 1 7609077 (1)
    leptomycin b 17.6 3 12670929 (2)
    n-(4-hydroxyphenyl)retinamide 17.5 1 14712289 (1)
    lysine 15.3 10 15479824 (2), 17145747 (1), 19200568 (1), 18081936 (1)
    camptothecin 13.1 3 15367606 (1), 10792988 (1)



    CNTN2 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 CNTN2 gene: 
    NM_005076.3  

    Unigene Cluster for CNTN2:

    Contactin 2 (axonal)
    Hs.519220  [show with all ESTs]
    Unigene Representative Sequence: NM_005076
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331830(uc001hbq.1 uc001hbr.3 uc001hbs.3) ENST00000532366
    ENST00000530117(uc009xbi.3) ENST00000481872 ENST00000527340 ENST00000530594
    ENST00000525433
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    Additional mRNA sequence: 

    AB074271.1 AK095531.1 AK289985.1 BC036477.2 BC129986.1 CR749495.1 X67734.1 X68274.1 

    9 DOTS entries:

    DT.100018504  DT.40269094  DT.102824485  DT.310947  DT.121330376  DT.121330281  DT.121330312  DT.121330372 
    DT.121330408 

    Selected AceView cDNA sequences (see all 65):

    NM_005076 BP349343 BM673097 AL120536 BX645368 BM704492 X68274 CD242651 
    AA330218 CB155420 AL133877 X67734 BM709315 CR749495 BF740264 BI913998 
    BC036477 H18697 BP349295 BM686805 N47159 AK095531 AI366526 BU732462 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNTN2 (see all 8)    About this scheme

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

    ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
    SP1:                                                                        
    SP2:                                                                        
    SP3:                    -     -                                             
    SP4:                                                                        
    SP5:                    -                                                   


    ECgene alternative splicing isoforms for CNTN2

    (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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    CNTN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACAGGCA
    CNTN2 Expression
    About this image


    CNTN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Epithalamus
     
     Peripheral Nervous System (Nervous System)
             Non-myelinating Schwann Cells Peripheral Nerve Domain
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
    CNTN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519220
        Custom PCR Arrays for CNTN2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTN2

    (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 CNTN2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntn21 , 5 contactin 21, 5 86.42(n)1
    91.72(a)1
      1 (57.42 cM)5
    213671  NM_177129.51  NP_796103.21 
     1325094255 
    chicken
    (Gallus gallus)
    Aves CNTN21 contactin 2 (axonal) 74.51(n)
    76.08(a)
      419825  NM_001004395.1  NP_001004395.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNTN26
    contactin 2 (axonal)
    71(a)
    1 ↔ 1
    4(116352769-116405173)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004870491 contactin-2-like 63.57(n)
    64.74(a)
      100487049  XM_002936227.2  XP_002936273.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cntn22 contactin 2 75.94(n)   30726  AF064799.1 


    ENSEMBL Gene Tree for CNTN2 (if available)
    TreeFam Gene Tree for CNTN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNTN2 gene
    CHL12  NEO12  ROBO12  CNTN52  CNTN42  IGDCC42  NRCAM2  L1CAM2  
    ROBO22  CNTN62  NFASC2  CNTN32  DCC2  PRTG2  IGDCC32  ROBO32  
    CNTN12  
    8 SIMAP similar genes for CNTN2 using alignment to 3 protein entries:     CNTN2_HUMAN (see all proteins):
    DKFZp781D102    MUSK    CNTN4    CNTN3    CNTN1    CNTN5
    CNTN6    HSPG2

    CNTN2 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 CNTN2 (see all 921)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918528681,2
    --205010374(+) CATTGA/TGATCT 1 -- us2k10--------
    rs1127309781,2
    C--205010380(+) GATCTGA/-GAGTC 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs38340621,2
    C--205010381(+) CTGAG-/AGTCTTT 1 -- us2k10--------
    rs37538461,2
    H--205010467(+) AAATAG/AAGTCA 1 -- us2k14Minor allele frequency- A:0.00NS EA 414
    rs1164893641,2
    F--205010490(+) TCTCCG/ATCTAA 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1840233171,2
    C--205010633(+) AACTTA/GCAGAG 1 -- us2k10--------
    rs1864801571,2
    --205010686(+) CAAGGC/TTCACC 1 -- us2k10--------
    rs1913787341,2
    --205010765(+) AGGAAA/GGGAAA 1 -- us2k10--------
    rs75130161,2
    C,H--205010923(+) AGGAAG/AGGAGG 1 -- us2k1 trp39Minor allele frequency- A:0.08WA NA CSA EA 369
    rs75233451,2
    C,F,A--205010925(+) GAAAGG/CAGGGG 1 -- us2k1 trp31Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for CNTN2 (205012325 - 205047627 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CNTN2: --
    Human Gene Mutation Database (HGMD): CNTN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNTN2
    DNA2.0 Custom Variant and Variant Library Synthesis for CNTN2

    (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.)
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    OMIM gene information: 190197   
    OMIM disorders: 615400  
    UniProtKB/Swiss-Prot: CNTN2_HUMAN, Q02246
  • Epilepsy, familial adult myoclonic, 5 (FAME5) [MIM:615400]: A form of cortical myoclonic tremor with
    epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. Usually,
    myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of
    the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom; both
    complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive
    impairment. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CNTN2 (see all 40):    
    About MalaCards
    human t-cell leukemia virus type 2    human t-cell leukemia virus type 1    epilepsy, familial adult myoclonic, 5    adult t-cell leukemia
    multifocal motor neuropathy    chronic inflammatory demyelinating polyneuropathy    demyelinating polyneuropathy    van der woude syndrome
    polymyositis    neurofibroma    spinal cord disease    htlv-1 associated myelopathy
    htlv-1 associated myelopathy/tropical spastic paraparesis    large granular lymphocyte leukemia    tropical spastic paraparesis    polyneuropathy
    spastic paraparesis    teratocarcinoma    t-cell leukemia    spasticity

    5 diseases from the University of Copenhagen DISEASES database for CNTN2:
    Adult T-cell leukemia     Tropical spastic paraparesis     Urinary bladder cancer     Transitional cell carcinoma
    Demyelinating polyneuropathy

    CNTN2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CNTN2 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia t-cell 98.1 158 8346248 (3), 2293664 (3), 9733879 (2), 8420985 (2) (see all 99)
    paraparesis tropical spastic 90.2 3 1540409 (1), 11964301 (1), 8648737 (1)
    myelopathy, htlv-1-associated 85.7 3 11964301 (1), 15479824 (1), 11559817 (1)
    htlv-i infections 85.4 10 18840303 (1), 12660926 (1), 8699061 (1), 9389355 (1) (see all 8)
    leukemogenesis 80.4 27 8152309 (1), 11024116 (1), 11264182 (1), 18518755 (1) (see all 25)
    t cell leukemia lymphoma adult 75.1 1 1501887 (1)
    htlv infections 73.8 2 9226179 (1), 9359663 (1)
    leukemia bovine 65.8 1 10359545 (1)
    leukemia 56.5 16 14533803 (1), 17707401 (1), 19701248 (1), 7862633 (1) (see all 13)
    leukemia lymphocytic large granular 49.5 1 7862633 (1)

    Genetic Association Database (GAD): CNTN2
    Human Genome Epidemiology (HuGE) Navigator: CNTN2 (2 documents)

    Export disorders for CNTN2 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 CNTN2 gene, integrated from 10 sources (see all 450):
    (articles sorted by number of sources associating them with CNTN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the cDNA and chromosomal localization of the gene (TAX1) encoding the human axonal glycoprotein TAG-1. (PubMed id 8307567)1, 2, 3, 9 Tsiotra C.P.... Papamatheakis J. (Genomics 1993)
    2. cDNA cloning, structural features, and eucaryotic expression of human TAG-1/axonin-1. (PubMed id 8425542)1, 2, 9 Hasler T.H.... Sonderegger P. (Eur. J. Biochem. 1993)
    3. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. (PubMed id 23518707)1, 2 Stogmann E....Zimprich A. (Brain 2013)
    4. Single nucleotide polymorphism of TAG-1 influences IVIg responsiveness of Japanese patients with CIDP. (PubMed id 19776380)1, 4 Iijima M....Sobue G. (Neurology 2009)
    5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    6. The crystal structure of the ligand-binding module of human TAG-1 suggests a new mode of homophilic interaction. (PubMed id 17766378)1, 2 Mortl M.... Welte W. (Protein Sci. 2007)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    9. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    10. Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. (PubMed id 8586965)1, 3 Yoshihara Y....Mori K. (J. Neurobiol. 1995)

    (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)
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    Entrez Gene: 6900 HGNC: 2172 AceView: CNTN2 Ensembl:ENSG00000184144 euGenes: HUgn6900
    ECgene: CNTN2 Kegg: 6900 H-InvDB: CNTN2

    (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)
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    NameDescription
    PharmGKB entry for CNTN2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CNTN2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNTN2 gene:
    Search GeneIP for patents involving CNTN2

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



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