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 located in membrane and paranodal junction. Is expressed in telencephalon. 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
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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 | IPR050372 | Neurexin-related cell adhesion and synaptic protein |
| 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 | 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:L7NKK5 | InterPro | 1315 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cntnap2b-201
(1)
|
Ensembl | 4,750 nt | ||
| mRNA |
cntnap2b-202
(1)
|
Ensembl | 4,126 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cntnap2 |
|
1 |
Plasmids
No data available