Gene

cntnap2a

ID
ZDB-GENE-120328-3
Name
contactin associated protein 2a
Symbol
cntnap2a Nomenclature History
Previous Names
  • zmp:0000000672
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to act upstream of or within cell adhesion. Predicted to be located in membrane and paranodal junction. Is expressed in anterior lateral line ganglion; brain; and posterior lateral line ganglion. Human ortholog(s) of this gene implicated in several diseases, including autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; major depressive disorder; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
nkhgn39dEtTransgenic insertionUnknownUnknownDNA
s3008Allele with one insertionUnknownUnknownCRISPR
sa10552Allele with one point mutationUnknownSplice SiteENU
sa37859Allele with one point mutationUnknownPremature StopENU
sa44117Allele with one point mutationUnknownPremature StopENU
sa44118Allele with one point mutationUnknownSplice SiteENU
ya1847Allele with one deletionExon 3Frameshift, Premature Stopzinc finger nuclease
ya2188Allele with one deletionExon 3Frameshift, Premature Stopzinc finger nuclease
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-cntnap2a
    (2)
    CRISPR2-cntnap2aGriffin et al., 2021
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    Human Disease
    Associated With cntnap2a Human Ortholog
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    cortical dysplasia-focal epilepsy syndrome Alliance Pitt-Hopkins like syndrome 1 610042
    {Autism susceptibility 15} 612100
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    Associated With cntnap2a Via Experimental Models
    No data available
    Gene Ontology
    Protein Domains
    Domain, Family, and Site Summary
    Type InterPro ID Name
    Domain IPR000421 Coagulation factor 5/8, C-terminal domain
    Domain IPR000742 EGF-like domain
    Domain IPR001791 Laminin G domain
    Domain IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
    Domain IPR003585 Neurexin/syndecan/glycophorin C
    1 - 5 of 9 Show all
    Domain Details Per Protein
    Protein Additional Resources Length Coagulation factor 5/8, C-terminal domain Concanavalin A-like lectin/glucanase domain superfamily EGF-like domain Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain Fibrinogen-like, C-terminal Galactose-binding-like domain superfamily Laminin G domain Neurexin-related cell adhesion and synaptic protein Neurexin/syndecan/glycophorin C
    UniProtKB:A0A8M3B6M0 InterPro 1326
    UniProtKB:L7NKH5 InterPro 1316
    UniProtKB:A0AB32TGU6 InterPro 1316
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    Transcripts
    Genome Browsers
    Genome Build: GRCz11Chromosome: 24
    Type Name Annotation Method Has Havana Data Length (nt) Analysis
    mRNA cntnap2a-201 (1) Ensembl 4,147 nt
    mRNA cntnap2a-202 (1) Ensembl 1,491 nt
    mRNA cntnap2a-203 (1) Ensembl 8,495 nt
    mRNA cntnap2a-204 (1) Ensembl 8,525 nt
    mRNA cntnap2a-205 (1) Ensembl 3,951 nt
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    Interactions and Pathways
    No data available
    Antibodies
    Name Type Antigen Genes Isotype Host Organism Assay Source Citations
    Ab1-cntnap2
    • WB
    1
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    Plasmids
    No data available
    Constructs
    No data available
    Marker Relationships
    Relationship Marker Type Marker Accession Numbers Citations
    Contained inBACCH211-207C17ZFIN Curated Data
    Contained inBACCH211-245H5ZFIN Curated Data
    Contained inBACDKEY-117J14ZFIN Curated Data
    Contained inBACDKEY-240A22ZFIN Curated Data
    Contained inBACDKEYP-122B2ZFIN Curated Data
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanCNTNAP27
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (1)
    MouseCntnap26
    Amino acid sequence comparison (1)
    Citations
    1 - 10 of 34
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