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Q9UHC6

- CNTP2_HUMAN

UniProt

Q9UHC6 - CNTP2_HUMAN

Protein

Contactin-associated protein-like 2

Gene

CNTNAP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. enzyme binding Source: BHF-UCL

    GO - Biological processi

    1. adult behavior Source: BHF-UCL
    2. brain development Source: BHF-UCL
    3. cell adhesion Source: UniProtKB-KW
    4. cellular protein localization Source: BHF-UCL
    5. cerebral cortex development Source: BHF-UCL
    6. clustering of voltage-gated potassium channels Source: BHF-UCL
    7. learning Source: BHF-UCL
    8. limbic system development Source: BHF-UCL
    9. neuron projection development Source: BHF-UCL
    10. neuron recognition Source: UniProtKB
    11. protein localization to juxtaparanode region of axon Source: BHF-UCL
    12. social behavior Source: BHF-UCL
    13. striatum development Source: BHF-UCL
    14. superior temporal gyrus development Source: BHF-UCL
    15. thalamus development Source: BHF-UCL
    16. transmission of nerve impulse Source: UniProtKB
    17. vocalization behavior Source: BHF-UCL

    Keywords - Biological processi

    Cell adhesion

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Contactin-associated protein-like 2
    Alternative name(s):
    Cell recognition molecule Caspr2
    Gene namesi
    Name:CNTNAP2
    Synonyms:CASPR2, KIAA0868
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:13830. CNTNAP2.

    Subcellular locationi

    GO - Cellular componenti

    1. axolemma Source: BHF-UCL
    2. axon Source: BHF-UCL
    3. cell surface Source: BHF-UCL
    4. dendrite Source: BHF-UCL
    5. early endosome Source: BHF-UCL
    6. Golgi apparatus Source: BHF-UCL
    7. integral component of membrane Source: UniProtKB
    8. juxtaparanode region of axon Source: BHF-UCL
    9. membrane Source: BHF-UCL
    10. neuronal cell body Source: BHF-UCL
    11. perikaryon Source: BHF-UCL
    12. voltage-gated potassium channel complex Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    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.
    A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv7(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

    Keywords - Diseasei

    Epilepsy

    Organism-specific databases

    MIMi610042. phenotype.
    612100. phenotype.
    Orphaneti106. Autism.
    163681. Cortical dysplasia - focal epilepsy syndrome.
    221150. Pitt-Hopkins-like syndrome.
    PharmGKBiPA26692.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Chaini28 – 13311304Contactin-associated protein-like 2PRO_0000019506Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi35 ↔ 181By similarity
    Glycosylationi289 – 2891N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi336 ↔ 368By similarity
    Glycosylationi346 – 3461N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi363 – 3631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi436 – 4361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi506 – 5061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi507 – 5071N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi520 ↔ 552By similarity
    Glycosylationi546 – 5461N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi558 ↔ 569By similarity
    Disulfide bondi563 ↔ 578By similarity
    Disulfide bondi580 ↔ 590By similarity
    Modified residuei589 – 5891Phosphothreonine1 Publication
    Modified residuei595 – 5951Phosphotyrosine1 Publication
    Glycosylationi630 – 6301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi735 – 7351N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi936 ↔ 963By similarity
    Disulfide bondi967 ↔ 980By similarity
    Disulfide bondi974 ↔ 989By similarity
    Disulfide bondi991 ↔ 1001By similarity
    Glycosylationi1116 – 11161N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1178 ↔ 1214By similarity
    Glycosylationi1198 – 11981N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UHC6.
    PaxDbiQ9UHC6.
    PRIDEiQ9UHC6.

    PTM databases

    PhosphoSiteiQ9UHC6.

    Expressioni

    Tissue specificityi

    Predominantly expressed in nervous system.

    Gene expression databases

    ArrayExpressiQ9UHC6.
    BgeeiQ9UHC6.
    CleanExiHS_CNTNAP2.
    GenevestigatoriQ9UHC6.

    Organism-specific databases

    HPAiHPA002739.

    Interactioni

    Subunit structurei

    Associates with KCNA2.By similarity

    Protein-protein interaction databases

    BioGridi117510. 8 interactions.
    IntActiQ9UHC6. 5 interactions.
    MINTiMINT-241211.
    STRINGi9606.ENSP00000354778.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHC6.
    SMRiQ9UHC6. Positions 34-181, 187-594, 729-756, 799-1188.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini28 – 12621235ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1284 – 133148CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1263 – 128321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini35 – 181147F5/8 type CPROSITE-ProRule annotationAdd
    BLAST
    Domaini216 – 368153Laminin G-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini401 – 552152Laminin G-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini554 – 59138EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini592 – 798207Fibrinogen C-terminalPROSITE-ProRule annotationAdd
    BLAST
    Domaini799 – 963165Laminin G-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini963 – 100240EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1055 – 1214160Laminin G-like 4PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the neurexin family.Curated
    Contains 2 EGF-like domains.PROSITE-ProRule annotation
    Contains 1 F5/8 type C domain.PROSITE-ProRule annotation
    Contains 1 fibrinogen C-terminal domain.PROSITE-ProRule annotation
    Contains 4 laminin G-like domains.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG291100.
    HOGENOMiHOG000230964.
    HOVERGENiHBG057718.
    InParanoidiQ9UHC6.
    KOiK07380.
    OMAiIDRCMPN.
    OrthoDBiEOG7GXP9N.
    PhylomeDBiQ9UHC6.
    TreeFamiTF321823.

    Family and domain databases

    Gene3Di2.60.120.200. 5 hits.
    2.60.120.260. 1 hit.
    InterProiIPR000421. Coagulation_fac_5/8-C_type_dom.
    IPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    IPR000742. EG-like_dom.
    IPR002181. Fibrinogen_a/b/g_C_dom.
    IPR008979. Galactose-bd-like.
    IPR001791. Laminin_G.
    IPR003585. Neurexin-like.
    [Graphical view]
    PfamiPF00008. EGF. 1 hit.
    PF00754. F5_F8_type_C. 1 hit.
    PF02210. Laminin_G_2. 4 hits.
    [Graphical view]
    SMARTiSM00294. 4.1m. 1 hit.
    SM00181. EGF. 1 hit.
    SM00231. FA58C. 1 hit.
    SM00282. LamG. 4 hits.
    [Graphical view]
    SUPFAMiSSF49785. SSF49785. 1 hit.
    SSF49899. SSF49899. 4 hits.
    SSF56496. SSF56496. 1 hit.
    PROSITEiPS50026. EGF_3. 2 hits.
    PS01285. FA58C_1. 1 hit.
    PS01286. FA58C_2. 1 hit.
    PS50022. FA58C_3. 1 hit.
    PS51406. FIBRINOGEN_C_2. 1 hit.
    PS50025. LAM_G_DOMAIN. 4 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UHC6-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQAAPRAGCG AALLLWIVSS CLCRAWTAPS TSQKCDEPLV SGLPHVAFSS     50
    SSSISGSYSP GYAKINKRGG AGGWSPSDSD HYQWLQVDFG NRKQISAIAT 100
    QGRYSSSDWV TQYRMLYSDT GRNWKPYHQD GNIWAFPGNI NSDGVVRHEL 150
    QHPIIARYVR IVPLDWNGEG RIGLRIEVYG CSYWADVINF DGHVVLPYRF 200
    RNKKMKTLKD VIALNFKTSE SEGVILHGEG QQGDYITLEL KKAKLVLSLN 250
    LGSNQLGPIY GHTSVMTGSL LDDHHWHSVV IERQGRSINL TLDRSMQHFR 300
    TNGEFDYLDL DYEITFGGIP FSGKPSSSSR KNFKGCMESI NYNGVNITDL 350
    ARRKKLEPSN VGNLSFSCVE PYTVPVFFNA TSYLEVPGRL NQDLFSVSFQ 400
    FRTWNPNGLL VFSHFADNLG NVEIDLTESK VGVHINITQT KMSQIDISSG 450
    SGLNDGQWHE VRFLAKENFA ILTIDGDEAS AVRTNSPLQV KTGEKYFFGG 500
    FLNQMNNSSH SVLQPSFQGC MQLIQVDDQL VNLYEVAQRK PGSFANVSID 550
    MCAIIDRCVP NHCEHGGKCS QTWDSFKCTC DETGYSGATC HNSIYEPSCE 600
    AYKHLGQTSN YYWIDPDGSG PLGPLKVYCN MTEDKVWTIV SHDLQMQTPV 650
    VGYNPEKYSV TQLVYSASMD QISAITDSAE YCEQYVSYFC KMSRLLNTPD 700
    GSPYTWWVGK ANEKHYYWGG SGPGIQKCAC GIERNCTDPK YYCNCDADYK 750
    QWRKDAGFLS YKDHLPVSQV VVGDTDRQGS EAKLSVGPLR CQGDRNYWNA 800
    ASFPNPSSYL HFSTFQGETS ADISFYFKTL TPWGVFLENM GKEDFIKLEL 850
    KSATEVSFSF DVGNGPVEIV VRSPTPLNDD QWHRVTAERN VKQASLQVDR 900
    LPQQIRKAPT EGHTRLELYS QLFVGGAGGQ QGFLGCIRSL RMNGVTLDLE 950
    ERAKVTSGFI SGCSGHCTSY GTNCENGGKC LERYHGYSCD CSNTAYDGTF 1000
    CNKDVGAFFE EGMWLRYNFQ APATNARDSS SRVDNAPDQQ NSHPDLAQEE 1050
    IRFSFSTTKA PCILLYISSF TTDFLAVLVK PTGSLQIRYN LGGTREPYNI 1100
    DVDHRNMANG QPHSVNITRH EKTIFLKLDH YPSVSYHLPS SSDTLFNSPK 1150
    SLFLGKVIET GKIDQEIHKY NTPGFTGCLS RVQFNQIAPL KAALRQTNAS 1200
    AHVHIQGELV ESNCGASPLT LSPMSSATDP WHLDHLDSAS ADFPYNPGQG 1250
    QAIRNGVNRN SAIIGGVIAV VIFTILCTLV FLIRYMFRHK GTYHTNEAKG 1300
    AESAESADAA IMNNDPNFTE TIDESKKEWL I 1331
    Length:1,331
    Mass (Da):148,167
    Last modified:May 1, 2000 - v1
    Checksum:iCFB2CB55BEFB99C2
    GO
    Isoform 2 (identifier: Q9UHC6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1223: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:108
    Mass (Da):11,899
    Checksum:iF0EB322C735B773E
    GO

    Sequence cautioni

    The sequence BAA74891.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti114 – 1141R → Q.1 Publication
    Corresponds to variant rs189731792 [ dbSNP | Ensembl ].
    VAR_046227
    Natural varianti218 – 2181T → M.1 Publication
    VAR_046228
    Natural varianti226 – 2261L → M.1 Publication
    VAR_046229
    Natural varianti283 – 2831R → C.1 Publication
    VAR_046230
    Natural varianti382 – 3821S → N.1 Publication
    VAR_046231
    Natural varianti407 – 4071N → S.1 Publication
    Corresponds to variant rs143877693 [ dbSNP | Ensembl ].
    VAR_046232
    Natural varianti418 – 4181N → D.1 Publication
    VAR_046233
    Natural varianti680 – 6801E → K.1 Publication
    VAR_046234
    Natural varianti699 – 6991P → Q.1 Publication
    VAR_046235
    Natural varianti716 – 7161Y → C.1 Publication
    VAR_046236
    Natural varianti731 – 7311G → S.1 Publication
    VAR_046237
    Natural varianti779 – 7791G → D.1 Publication
    Corresponds to variant rs200413148 [ dbSNP | Ensembl ].
    VAR_046238
    Natural varianti869 – 8691I → T Associated with susceptibility to autism. 1 Publication
    VAR_046239
    Natural varianti906 – 9061R → H.1 Publication
    VAR_046240
    Natural varianti1038 – 10381D → N.1 Publication
    VAR_046241
    Natural varianti1102 – 11021V → A.1 Publication
    Corresponds to variant rs111599875 [ dbSNP | Ensembl ].
    VAR_046242
    Natural varianti1114 – 11141S → G.1 Publication
    VAR_046243
    Natural varianti1119 – 11191R → H.1 Publication
    VAR_046244
    Natural varianti1129 – 11291D → H.1 Publication
    VAR_046245
    Natural varianti1227 – 12271A → T.1 Publication
    VAR_046246
    Natural varianti1253 – 12531I → T.1 Publication
    VAR_046247
    Natural varianti1278 – 12781T → I.1 Publication
    VAR_046248

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 12231223Missing in isoform 2. 1 PublicationVSP_014976Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF193613 mRNA. Translation: AAF25199.1.
    AF319045 mRNA. Translation: AAK34932.1.
    AF318292 Genomic DNA. Translation: AAK49902.1.
    AF318298 Genomic DNA. Translation: AAK49903.1.
    AB020675 mRNA. Translation: BAA74891.1. Different initiation.
    CR933671 mRNA. Translation: CAI45967.1.
    CH471146 Genomic DNA. Translation: EAW80084.1.
    BC093780 mRNA. Translation: AAH93780.1.
    BC113373 mRNA. Translation: AAI13374.1.
    CCDSiCCDS5889.1. [Q9UHC6-1]
    RefSeqiNP_054860.1. NM_014141.5. [Q9UHC6-1]
    UniGeneiHs.655684.

    Genome annotation databases

    EnsembliENST00000361727; ENSP00000354778; ENSG00000174469. [Q9UHC6-1]
    GeneIDi26047.
    KEGGihsa:26047.
    UCSCiuc003weu.2. human. [Q9UHC6-1]
    uc003wev.2. human. [Q9UHC6-2]

    Polymorphism databases

    DMDMi17433089.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF193613 mRNA. Translation: AAF25199.1 .
    AF319045 mRNA. Translation: AAK34932.1 .
    AF318292 Genomic DNA. Translation: AAK49902.1 .
    AF318298 Genomic DNA. Translation: AAK49903.1 .
    AB020675 mRNA. Translation: BAA74891.1 . Different initiation.
    CR933671 mRNA. Translation: CAI45967.1 .
    CH471146 Genomic DNA. Translation: EAW80084.1 .
    BC093780 mRNA. Translation: AAH93780.1 .
    BC113373 mRNA. Translation: AAI13374.1 .
    CCDSi CCDS5889.1. [Q9UHC6-1 ]
    RefSeqi NP_054860.1. NM_014141.5. [Q9UHC6-1 ]
    UniGenei Hs.655684.

    3D structure databases

    ProteinModelPortali Q9UHC6.
    SMRi Q9UHC6. Positions 34-181, 187-594, 729-756, 799-1188.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117510. 8 interactions.
    IntActi Q9UHC6. 5 interactions.
    MINTi MINT-241211.
    STRINGi 9606.ENSP00000354778.

    PTM databases

    PhosphoSitei Q9UHC6.

    Polymorphism databases

    DMDMi 17433089.

    Proteomic databases

    MaxQBi Q9UHC6.
    PaxDbi Q9UHC6.
    PRIDEi Q9UHC6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361727 ; ENSP00000354778 ; ENSG00000174469 . [Q9UHC6-1 ]
    GeneIDi 26047.
    KEGGi hsa:26047.
    UCSCi uc003weu.2. human. [Q9UHC6-1 ]
    uc003wev.2. human. [Q9UHC6-2 ]

    Organism-specific databases

    CTDi 26047.
    GeneCardsi GC07P145863.
    HGNCi HGNC:13830. CNTNAP2.
    HPAi HPA002739.
    MIMi 604569. gene.
    610042. phenotype.
    612100. phenotype.
    neXtProti NX_Q9UHC6.
    Orphaneti 106. Autism.
    163681. Cortical dysplasia - focal epilepsy syndrome.
    221150. Pitt-Hopkins-like syndrome.
    PharmGKBi PA26692.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291100.
    HOGENOMi HOG000230964.
    HOVERGENi HBG057718.
    InParanoidi Q9UHC6.
    KOi K07380.
    OMAi IDRCMPN.
    OrthoDBi EOG7GXP9N.
    PhylomeDBi Q9UHC6.
    TreeFami TF321823.

    Miscellaneous databases

    ChiTaRSi CNTNAP2. human.
    GeneWikii CNTNAP2.
    GenomeRNAii 26047.
    NextBioi 47891.
    PROi Q9UHC6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHC6.
    Bgeei Q9UHC6.
    CleanExi HS_CNTNAP2.
    Genevestigatori Q9UHC6.

    Family and domain databases

    Gene3Di 2.60.120.200. 5 hits.
    2.60.120.260. 1 hit.
    InterProi IPR000421. Coagulation_fac_5/8-C_type_dom.
    IPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    IPR000742. EG-like_dom.
    IPR002181. Fibrinogen_a/b/g_C_dom.
    IPR008979. Galactose-bd-like.
    IPR001791. Laminin_G.
    IPR003585. Neurexin-like.
    [Graphical view ]
    Pfami PF00008. EGF. 1 hit.
    PF00754. F5_F8_type_C. 1 hit.
    PF02210. Laminin_G_2. 4 hits.
    [Graphical view ]
    SMARTi SM00294. 4.1m. 1 hit.
    SM00181. EGF. 1 hit.
    SM00231. FA58C. 1 hit.
    SM00282. LamG. 4 hits.
    [Graphical view ]
    SUPFAMi SSF49785. SSF49785. 1 hit.
    SSF49899. SSF49899. 4 hits.
    SSF56496. SSF56496. 1 hit.
    PROSITEi PS50026. EGF_3. 2 hits.
    PS01285. FA58C_1. 1 hit.
    PS01286. FA58C_2. 1 hit.
    PS50022. FA58C_3. 1 hit.
    PS51406. FIBRINOGEN_C_2. 1 hit.
    PS50025. LAM_G_DOMAIN. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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), CHARACTERIZATION.
      Tissue: Brain.
    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).
    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).
      Tissue: Brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Retina.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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).
      Tissue: Brain.
    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 CDFES.
    8. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-589 AND TYR-595, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. Cited for: 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, ASSOCIATION WITH SUSCEPTIBILITY TO AUTISM.

    Entry informationi

    Entry nameiCNTP2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHC6
    Secondary accession number(s): D3DWG2
    , Q14DG2, Q52LV1, Q5H9Q7, Q9UQ12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 5, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 142 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3