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

CNTNAP2 Gene

protein-coding   GIFtS: 67
GCID: GC07P145863

Contactin Associated Protein-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)
About This Section

Aliases
Contactin Associated Protein-Like 21 2     NRXN42 5
CASPR22 3 5     PTHSL12 5
Cell Recognition Molecule Caspr22 3     Contactin-Associated Protein-Like 22
AUTS152 5     Homolog Of Drosophila Neurexin IV2
CDFE2 5     KIAA08683

External Ids:    HGNC: 138301   Entrez Gene: 260472   Ensembl: ENSG000001744697   OMIM: 6045695   UniProtKB: Q9UHC63   

Export aliases for CNTNAP2 gene to outside databases

Previous GC identifers: GC07P144718 GC07P145128 GC07P145205 GC07P145251 GC07P145444 GC07P139891


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

Entrez Gene summary for CNTNAP2 Gene:
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell
adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor
repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and
fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is
localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during
nervous system development and is also involved in localization of potassium channels within differentiating
axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It
is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and
language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de
la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.(provided by RefSeq, Mar 2010)

GeneCards Summary for CNTNAP2 Gene: 
CNTNAP2 (contactin associated protein-like 2) is a protein-coding gene. Diseases associated with CNTNAP2 include focal epilepsy, and gilles de la tourette syndrome. GO annotations related to this gene include enzyme binding and receptor binding. An important paralog of this gene is CNTNAP1.

UniProtKB/Swiss-Prot: CNTP2_HUMAN, Q9UHC6
Function: May play a role in the formation of functional distinct domains critical for saltatory conduction of
nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction

Gene Wiki entry for CNTNAP2 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_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNTNAP2 gene promoter:
         IRF-2   HOXA3   AP-1   NRSF form 1   POU3F2 (N-Oct-5a)   POU3F2   NRSF form 2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 10): CNTNAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CNTNAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNTNAP2


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

Entrez Gene cytogenetic band: 7q35   Ensembl cytogenetic band:  7q35   HGNC cytogenetic band: 7q35

CNTNAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTNAP2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P145863:  view genomic region     (about GC identifiers)

Start:
145,813,453 bp from pter      End:
148,118,090 bp from pter
Size:
2,304,638 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 145,151,433-147,456,408     

(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: CNTP2_HUMAN, Q9UHC6 (See protein sequence)
Recommended Name: Contactin-associated protein-like 2 precursor  
Size: 1331 amino acids; 148167 Da
Subunit: Associates with KCNA2 (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=BAA74891.1; Type=Erroneous initiation;
Secondary accessions: D3DWG2 Q14DG2 Q52LV1 Q5H9Q7 Q9UQ12
Alternative splicing: 2 isoforms:  Q9UHC6-1   Q9UHC6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNTNAP2: NX_Q9UHC6

Explore proteomics data for CNTNAP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHC6

  • CNTNAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CNTNAP2 Protein Expression
    REFSEQ proteins: NP_054860.1  
    ENSEMBL proteins: 
     ENSP00000354778   ENSP00000392208   ENSP00000440732  

    Human Recombinant Protein Products for CNTNAP2: 
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    Novus Biologicals CNTNAP2 Lysates
    Sino Biological Recombinant Protein for CNTNAP2
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    Cloud-Clone Corp. Proteins for CNTNAP2 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IDA19706678
    GO:0005794Golgi apparatus IDA19166515
    GO:0008076voltage-gated potassium channel complex IDA10624965
    GO:0009986cell surface IDA19706678
    GO:0016020membrane IDA10624965

    CNTNAP2 for ontologies           About GeneDecksing



    CNTNAP2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CNTNAP2 

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    Cloud-Clone Corp. CLIAs for CNTNAP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR008979 Galactose-bd-like
     IPR003585 Neurexin-like

    Graphical View of Domain Structure for InterPro Entry Q9UHC6

    ProtoNet protein and cluster: Q9UHC6

    2 Blocks protein domains:
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001791 Laminin G


    UniProtKB/Swiss-Prot: CNTP2_HUMAN, Q9UHC6
    Similarity: Belongs to the neurexin family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 F5/8 type C domain
    Similarity: Contains 1 fibrinogen C-terminal domain
    Similarity: Contains 4 laminin G-like domains


    CNTNAP2 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: CNTP2_HUMAN, Q9UHC6
    Function: May play a role in the formation of functional distinct domains critical for saltatory conduction of
    nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019899enzyme binding IPI19166515
         
    CNTNAP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNTNAP2:
     Increased S DNA content 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cntnap2):
     behavior/neurological  cellular  growth/size  integument  nervous system 
     taste/olfaction 

    CNTNAP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cntnap2tm1Pele for CNTNAP2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CNTNAP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CNTNAP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNTNAP2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNTNAP2 

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTNAP2


    (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

    SuperPaths for CNTNAP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience
    2Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CNTNAP2
        Neuroscience



    1         Kegg Pathway  (Kegg details for CNTNAP2):
        Cell adhesion molecules (CAMs)


    CNTNAP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNTNAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for CNTNAP2 (Q9UHC62, 3 ENSP000003547784) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149362, 3, ENSP000003674084MINT-58196 I2D: score=4 STRING: ENSP00000367408
    CNTN2Q022463, ENSP000003306334I2D: score=3 STRING: ENSP00000330633
    CTR9Q6PD623, ENSP000003550134I2D: score=2 STRING: ENSP00000355013
    ZMIZ1Q9ULJ63, ENSP000003344744I2D: score=2 STRING: ENSP00000334474
    KCNA2P163893, ENSP000003145204I2D: score=1 STRING: ENSP00000314520
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007420brain development TAS10624965
    GO:0007610behavior IMP18179893
    GO:0007612learning IMP19896112
    GO:0008038neuron recognition NAS10624965

    CNTNAP2 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

    CNTNAP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CNTNAP2 (CNTP2)

    1 Novoseek inferred chemical compound relationship for CNTNAP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 35.1 4 11512672 (1), 17405182 (1), 12542678 (1), 16571880 (1)

    Search CenterWatch for drugs/clinical trials and news about CNTNAP2 / CNTP2

    (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 CNTNAP2 gene: 
    NM_014141.5  

    Unigene Cluster for CNTNAP2:

    Contactin associated protein-like 2
    Hs.655684  [show with all ESTs]
    Unigene Representative Sequence: NM_014141
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361727(uc003weu.2) ENST00000455301 ENST00000602734 ENST00000463592(uc003wev.2)
    ENST00000538075
    miRNA
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    8/72 QIAGEN miScript miRNA Assays for microRNAs that regulate CNTNAP2 (see all 72):
    hsa-miR-3653 hsa-miR-149 hsa-miR-1298 hsa-miR-34c-5p hsa-miR-27a hsa-miR-622 hsa-miR-183 hsa-miR-491-3p
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNTNAP2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNTNAP2

    Additional mRNA sequence: 

    AB020675.1 AB073883.1 AK294098.1 AK296532.1 AK315113.1 BC093780.1 BC113373.1 CR933671.1 

    5 DOTS entries:

    DT.412057  DT.102834324  DT.454021  DT.100751212  DT.97781183 

    6 AceView cDNA sequences:

    CD625192 CD625182 CD625190 CD625188 CD625178 CD625180 

    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

    CNTNAP2 expression in normal human tissues (normalized intensities)      CNTNAP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACTAGAA
    CNTNAP2 Expression
    About this image


    CNTNAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             Human Hippocampal Astrocytes   
             prefrontal cortex   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 11 entries
             hIPS1
             ESI-017   
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Retina
             Human Trabecular Meshwork Cells (HTMC)   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Epithelium
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   

    See CNTNAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CNTNAP2

    SOURCE GeneReport for Unigene cluster: Hs.655684

    UniProtKB/Swiss-Prot: CNTP2_HUMAN, Q9UHC6
    Tissue specificity: Predominantly expressed in nervous system

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    In Situ
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    (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 animals.

    Orthologs for CNTNAP2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntnap21 , 5 contactin associated protein-like 21, 5 87.91(n)1
    94.04(a)1
      6 (21.81 cM)5
    667971  NM_001004357.21  NP_001004357.21 
     450600615 
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    87(a)
    82(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    2(53643866-53934916)
    2(53983169-54263074)
    lizard
    (Anolis carolinensis)
    Reptilia CNTNAP26
    --
    --
    79(a)
    48(a)
    1 ↔ 1
    possible ortholog
    6(52782447-53276569)
    2(38260894-38592818)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.128942 Transcribed sequence with moderate similarity to protein more 74.96(n)    BX720258.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.162892 Transcribed sequence with moderate similarity to protein more 80.38(n)    BI350907.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nrx3
    Nrx-IV1
    dorsal closure transmembrane receptor3
    Neurexin IV1
    32(a)3
    46.88(n)1
    35.9(a)1
      393871  NM_168491.21  NP_729787.21 


    ENSEMBL Gene Tree for CNTNAP2 (if available)
    TreeFam Gene Tree for CNTNAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CNTNAP2 gene
    CNTNAP12  NRXN32  CNTNAP52  NRXN22  CNTNAP3B2  CNTNAP32  LOC6437922  CNTNAP42  
    NRXN12  
    18/28 SIMAP similar genes for CNTNAP2 using alignment to 21 protein entries:     CNTP2_HUMAN (see all proteins) (see all similar genes):
    CNTNAP5    DKFZp686F1789    CASPR4    CNTNAP4    CNTNAP3    CNTNAP3B
    DKFZp686I15204    CNTNAP1    CADM2    CRB2    DCBLD2    EDIL3
    JAG2    MFGE8    CPXM2    DKFZp666J235    DKFZp686A03134    DKFZp781F1414

    CNTNAP2 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

    10/54191 SNPs in CNTNAP2 are shown (see all 54191)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1834501921,2
    Cuntested1150790888(+) TTATTC/TGCCAA 1 -- int10--------
    rs1475576491,2
    Cuntested1150838502(+) AAATCA/G/TTCACC 1 -- int10--------
    rs1440030991,2
    Cuntested1151419982(+) AGTTAC/TCATCT 2 Y syn11Minor allele frequency- T:0.00NA 4550
    rs1219084451,2
    Cother1151300413(+) AGAGAC/TTGTAG 2 T I mis10--------
    VAR_0462344
    ----see VAR_0462342 E K mis40--------
    VAR_0462414
    ----see VAR_0462412 D N mis40--------
    VAR_0462354
    ----see VAR_0462352 P Q mis40--------
    VAR_0462444
    ----see VAR_0462442 R H mis40--------
    VAR_0462404
    ----see VAR_0462402 R H mis40--------
    VAR_0462434
    ----see VAR_0462432 S G mis40--------

    HapMap Linkage Disequilibrium report for CNTNAP2 (145813453 - 146063453 bp, first 250kb of CNTNAP2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/159 variations for CNTNAP2 (see all 159):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735301CNV Deletion23290073
    dgv1246e199CNV Deletion23128226
    esv2524864CNV Deletion19546169
    esv2735320CNV Deletion23290073
    nsv436545CNV Deletion17901297
    nsv820722CNV Deletion20802225
    esv2735298CNV Deletion23290073
    esv2735322CNV Deletion23290073
    esv2663251CNV Deletion23128226
    esv2662776CNV Deletion23128226


    Human Gene Mutation Database (HGMD): CNTNAP2

    Locus Specific Mutation Databases (LSDB): CNTNAP2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CNTNAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for CNTNAP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604569   
    OMIM disorders: 610042  612100  
    UniProtKB/Swiss-Prot: CNTP2_HUMAN, Q9UHC6
  • Cortical dysplasia-focal epilepsy syndrome (CDFES) [MIM:610042]: A disease characterized by cortical
    dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures
    begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and
    mental retardation develop. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Autism 15 (AUTS15) [MIM:612100]: A complex multifactorial, pervasive developmental disorder characterized
    by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of
    interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals
    with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry
  • Note=A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder.
    Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2

  • 20/29 diseases for CNTNAP2 (see all 29):    About MalaCards
    focal epilepsy    gilles de la tourette syndrome    pitt-hopkins-like syndrome 1    cortical dysplasia-focal epilepsy syndrome
    autism susceptibility 15    epilepsy syndrome    pitt-hopkins syndrome    language disorder
    mutism    exfoliation syndrome    dyslexia    schizophrenia
    obsessive-compulsive disorder    scoliosis    attention deficit hyperactivity disorder    mental retardation
    autism spectrum disorder    intellectual disability    encephalitis    bipolar disorder

    6 diseases from the University of Copenhagen DISEASES database for CNTNAP2:
    Autistic disorder     Exfoliation syndrome     Gilles de la Tourette syndrome     Encephalitis
    Language disorder     Articulation disorder

    CNTNAP2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CNTNAP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tourette syndrome 55 5 17392702 (3), 12809671 (1)

    Genetic Association Database (GAD): CNTNAP2
    Human Genome Epidemiology (HuGE) Navigator: CNTNAP2 (26 documents)

    Export disorders for CNTNAP2 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 CNTNAP2 gene, integrated from 9 sources (see all 90):
    (articles sorted by number of sources associating them with CNTNAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. (PubMed id 10624965)1, 2, 3 Poliak S.... Peles E. (1999)
    2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T....Ohara O. (1998)
    3. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. (PubMed id 18179895)1, 2, 9 Bakkaloglu B....State M.W. (2008)
    4. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. (PubMed id 11352571)1, 2, 9 Nakabayashi K. and Scherer S.W. (2001)
    5. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (PubMed id 18179893)1, 4, 9 Alarcon M....Geschwind D.H. (2008)
    6. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. (PubMed id 16571880)1, 2, 9 Strauss K.A.... Morton D.H. (2006)
    7. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. (PubMed id 18179894)1, 4, 9 Arking D.E....Chakravarti A. (2008)
    8. A comprehensive genetic association study of Alzheimer disease in African Americans. (PubMed id 22159054)1, 4 Logue M.W....Farrer L.A. (2011)
    9. Rare structural variants found in attention-deficit h yperactivity disorder are preferentially associated with neurodevelopmental gen es. (PubMed id 19546859)1, 4 Elia J....White P.S. (2010)
    10. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. (PubMed id 20502679)1, 4 Mefford H.C....Eichler E.E. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 26047 HGNC: 13830 AceView: CNTNAP2.1 Ensembl:ENSG00000174469 euGenes: HUgn26047
    ECgene: CNTNAP2 Kegg: 26047 H-InvDB: CNTNAP2

    (According to HUGE)
    About This Section
    HUGE: KIAA0868

    (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 CNTNAP2 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 CNTNAP2 gene:
    Search GeneIP for patents involving CNTNAP2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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