Gene

cntnap2b

ID
ZDB-GENE-070912-26
Name
contactin associated protein 2b
Symbol
cntnap2b Nomenclature History
Previous Names
  • cntnap2 (1)
  • si:ch211-120f16.4
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to be involved in protein localization to juxtaparanode region of axon. Predicted to localize to integral component of membrane and paranodal junction. Is expressed in telencephalon. 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
Note
None
Expression
All Expression Data
from Xing et al., 2012
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cntnap2b 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
cortical dysplasia-focal epilepsy syndrome Alliance Pitt-Hopkins like syndrome 1 610042
{Autism susceptibility 15} 612100
Associated With cntnap2b 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
Family IPR029831 Contactin-associated protein-like 2
Homologous_superfamily IPR008979 Galactose-binding-like domain superfamily
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR036056 Fibrinogen-like, C-terminal
Domain Details Per Protein
Protein Length Coagulation factor 5/8 C-terminal domain Concanavalin A-like lectin/glucanase domain superfamily Contactin-associated protein-like 2 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/syndecan/glycophorin C
UniProtKB:X1WFW5 566
UniProtKB:B0S7S0 1315
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-cntnap2
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations