ZFIN ID: ZDB-GENE-120328-3
Gene Name: contactin associated protein 2a
Gene Symbol: cntnap2a    Nomenclature History

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Previous Name: zmp:0000000672

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 24 Mapping Details/Browsers
Description: Predicted to be involved in protein localization to juxtaparanode region of axon. Predicted to localize to integral component of membrane. Is expressed in anterior lateral line ganglion and posterior lateral line ganglion. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2).
Genome Resources: Alliance (1),  Gene:559157 (1),  Ensembl(GRCz11):ENSDARG00000058969 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
nkhgn39dEt Transgenic Insertion Unknown Unknown DNA
sa10552 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37859 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44117 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44118 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • ya1847 Small Deletion Exon 3 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
    ya2188 Small Deletion Exon 3 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-cntnap2a
    2
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH cntnap2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    cortical dysplasia-focal epilepsy syndrome Alliance Cortical dysplasia-focal epilepsy syndrome 610042
    Pitt-Hopkins like syndrome 1 610042
    {Autism susceptibility 15} 612100
    DISEASE ASSOCIATED WITH cntnap2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process protein localization to juxtaparanode region of axon (more)
    Cellular Component integral component of membrane (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA cntnap2a-201 (1)    Ensembl 4147
    cntnap2a-202 (1)    Ensembl 1491
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-cntnap2 WB 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cntnap2a No data available
    MARKER RELATIONSHIPS
    cntnap2a Contained in: [BAC] CH211-207C17 (1), CH211-245H5 (1), DKEY-117J14 (1) (order this), DKEY-240A22 (1) (order this), DKEYP-122B2 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001281991 (1) 4558 nt
    Genomic GenBank:CR376742 (1) 206722 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A0A125S8H8 (1) 1316 aa
    Sequence Information (all 29)
    ORTHOLOGY for cntnap2a ( Chr: 24 )
    CITATIONS (42)