Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 25 of 100  Show
  1. 1
    "Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels."
    Poliak S., Gollan L., Martinez R., Custer A., Einheber S., Salzer J.L., Trimmer J.S., Shrager P., Peles E.
    Neuron 24:1037-1047(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH KCNA2, TISSUE SPECIFICITY.
    Category: Expression, Interaction, Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2 and mapped to 3 other entries.

  2. 2
    "The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35."
    Nakabayashi K., Scherer S.W.
    Genomics 73:108-112(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 4 other entries.

  3. 3
    "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."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 99 other entries.

  4. 4
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Category: Sequences.
    Tissue: Retina.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2471 other entries.

  5. 5
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  6. 6
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50448 other entries.

  7. 7
    "Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2."
    Strauss K.A., Puffenberger E.G., Huentelman M.J., Gottlieb S., Dobrin S.E., Parod J.M., Stephan D.A., Morton D.H.
    N. Engl. J. Med. 354:1370-1377(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PTHSL1.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 26 other entries.

  8. 8
    "CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila."
    Zweier C., de Jong E.K., Zweier M., Orrico A., Ousager L.B., Collins A.L., Bijlsma E.K., Oortveld M.A., Ekici A.B., Reis A., Schenck A., Rauch A.
    Am. J. Hum. Genet. 85:655-666(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PTHSL1.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 68 other entries.

  9. 9
    Cited for: INVOLVEMENT IN AUTS15, VARIANTS GLN-114; MET-218; MET-226; CYS-283; ASN-382; SER-407; ASP-418; LYS-680; GLN-699; CYS-716; SER-731; ASP-779; THR-869; HIS-906; ASN-1038; ALA-1102; GLY-1114; HIS-1119; HIS-1129; THR-1227; THR-1253 AND ILE-1278, CHROMOSOMAL REARRANGEMENT.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 11 other entries.

  10. 10
    "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: Sequences.
    Tissue: Leukemic T-cell.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 5570 other entries.

  11. 11
    "Caspr3 and Caspr4, two novel members of the Caspr family are expressed in the nervous system and interact with PDZ domains."
    Spiegel I., Salomon D., Erne B., Schaeren-Wiemers N., Peles E.
    Mol. Cell. Neurosci. 20:283-297(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Source: IntAct:Q9UHC6.

    This publication is cited by 1 and mapped to 17 other entries.

  12. 12
    "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs."
    Nakayama M., Kikuno R., Ohara O.
    Genome Res. 12:1773-1784(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Source: IntAct:Q9UHC6.

    This publication is cited by 1 and mapped to 92 other entries.

  13. 13
    "CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder."
    Tourette Syndrome Association International Consortium for Genetics
    Verkerk A.J., Mathews C.A., Joosse M., Eussen B.H., Heutink P., Oostra B.A.
    Genomics 82:1-9(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: CNTNAP2 is disrupted in a family with Tourette syndrome and obsessive-compulsive disorder.
    Source: GeneRIF:26047.

    This publication is mapped to 27 other entries.

  14. 14
    "Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome."
    Belloso J.M., Bache I., Guitart M., Caballin M.R., Halgren C., Kirchhoff M., Ropers H.H., Tommerup N., Tumer Z.
    Eur. J. Hum. Genet. 15:711-713(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: familial balanced reciprocal translocation t(7;15)(q35;q26.1) in phenotypically normal individuals. 7q35 breakpoint disrupts CNTNAP2 gene indicating that this gene truncation does not necessarily lead to complex Gilles de la Tourette syndrome.
    Source: GeneRIF:26047.

    This publication is mapped to 27 other entries.

  15. 15
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); This study reports genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia.
    Source: GeneRIF:26047.

    This publication is mapped to 27 other entries.

  16. 16
    "Genome-wide association with bone mass and geometry in the Framingham Heart Study."
    Kiel D.P., Demissie S., Dupuis J., Lunetta K.L., Murabito J.M., Karasik D.
    BMC Med. Genet. 8 Suppl 1:S14-S14(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech.
    Annotation: Associated with METABOLIC: Bone Mineral Density.
    Source: GAD:597334.

    This publication is mapped to 84 other entries.

  17. 17
    Category: Function, Pathology & Biotech.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); These results provide convergent evidence for involvement of CNTNAP2 a Neurexin family member in autism and demonstrate a connection between genetic risk for autism and specific brain structures.
    Source: GeneRIF:26047.

    This publication is mapped to 27 other entries.

  18. 18
    "A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism."
    Arking D.E., Cutler D.J., Brune C.W., Teslovich T.M., West K., Ikeda M., Rea A., Guy M., Lin S., Cook E.H., Chakravarti A.
    Am. J. Hum. Genet. 82:160-164(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); Study identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2) a member of the neurexin superfamily that is significantly associated with autism susceptibility.
    Source: GeneRIF:26047.

    This publication is mapped to 27 other entries.

  19. 19
    "Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia."
    Kamdem L.K., Hamilton L., Cheng C., Liu W., Yang W., Johnson J.A., Pui C.H., Relling M.V.
    Pharmacogenet. Genomics 18:507-514(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:26047.

    This publication is mapped to 85 other entries.

  20. 20
    "Pharmacological probing of type 1 autism."
    Manev H., Manev R.
    J Autism Dev Disord 38:1400-1401(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: The proposed type 1 autism includes autism cases with the originally described premature stop codon CNTNAP2 along with other CNTNAP2 mutations.
    Source: GeneRIF:26047.

    This publication is mapped to 27 other entries.

  21. 21
    Category: Function, Pathology & Biotech.
    Annotation: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:26047.

    This publication is mapped to 60 other entries.

  22. 22
    Category: Pathology & Biotech, Sequences.
    Annotation: On analyzing CNTNAP2 polymorphisms in children with typical specific language impairment we detected significant quantitative associations with nonsense-word repetition a heritable behavioral marker of this disorder; Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:26047.

    This publication is mapped to 46 other entries.

  23. 23
    "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."
    Gratacos M., Costas J., de Cid R., Bayes M., Gonzalez J.R., Baca-Garcia E., de Diego Y., Fernandez-Aranda F., Fernandez-Piqueras J., Guitart M., Martin-Santos R., Martorell L., Menchon J.M., Roca M., Saiz-Ruiz J., Sanjuan J., Torrens M., Urretavizcaya M.
    Carracedo A.
    Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B:808-816(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:26047.

    This publication is mapped to 1429 other entries.

  24. 24
    "Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS."
    Oiso S., Takeda Y., Futagawa T., Miura T., Kuchiiwa S., Nishida K., Ikeda R., Kariyazono H., Watanabe K., Yamada K.
    J. Neurochem. 109:158-167(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location.
    Annotation: Both Caspr2 and carboxypeptidase E are expressed predominantly in the central nervous system and colocalized in the apical dendrites and cell bodies of cortical neurons.
    Source: GeneRIF:26047.

    This publication is mapped to 33 other entries.

  25. 25
    "Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes."
    Elia J., Gai X., Xie H.M., Perin J.C., Geiger E., Glessner J.T., D'arcy M., deBerardinis R., Frackelton E., Kim C., Lantieri F., Muganga B.M., Wang L., Takeda T., Rappaport E.F., Grant S.F., Berrettini W., Devoto M.
    White P.S.
    Mol. Psychiatry 15:637-646(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:26047.

    This publication is mapped to 49 other entries.

1 to 25 of 100  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again