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. 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. Is expressed in telencephalon. 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 | 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
|
1315 |
| 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