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 act upstream of or within cell adhesion. 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 |
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Domain, Family, and Site Summary
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 |
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| 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 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cntnap2 |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-120F16 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001302242 (1) | |||
| Genomic | GenBank:BX284691 (1) | 174775 nt | ||
| Polypeptide | UniProtKB:L7NKK5 (1) | 1315 aa |
- Weinschutz Mendes, H., Neelakantan, U., Liu, Y., Fitzpatrick, S.E., Chen, T., Wu, W., Pruitt, A., Jin, D.S., Jamadagni, P., Carlson, M., Lacadie, C.M., Enriquez, K.D., Li, N., Zhao, D., Ijaz, S., Sakai, C., Szi, C., Rooney, B., Ghosh, M., Nwabudike, I., Gorodezky, A., Chowdhury, S., Zaheer, M., McLaughlin, S., Fernandez, J.M., Wu, J., Eilbott, J.A., Vander Wyk, B., Rihel, J., Papademetris, X., Wang, Z., Hoffman, E.J. (2023) High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports. 42:112243112243
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Lüffe, T.M., D'Orazio, A., Bauer, M., Gioga, Z., Schoeffler, V., Lesch, K.P., Romanos, M., Drepper, C., Lillesaar, C. (2021) Increased locomotor activity via regulation of GABAergic signalling in foxp2 mutant zebrafish-implications for neurodevelopmental disorders. Translational psychiatry. 11:529
- Pichler, P., Lagnado, L. (2018) The transfer characteristics of hair cells encoding mechanical stimuli in the lateral line of zebrafish. The Journal of neuroscience : the official journal of the Society for Neuroscience. 39(1):112-124
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Hoffman, E.J., Turner, K.J., Fernandez, J.M., Cifuentes, D., Ghosh, M., Ijaz, S., Jain, R.A., Kubo, F., Bill, B.R., Baier, H., Granato, M., Barresi, M.J., Wilson, S.W., Rihel, J., State, M.W., Giraldez, A.J. (2016) Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Neuron. 89(4):725-33
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Shah, A.N., Davey, C.F., Whitebirch, A.C., Miller, A.C., Moens, C.B. (2015) Rapid reverse genetic screening using CRISPR in zebrafish. Nature Methods. 12(6):535-40
- Pujol-Martí, J., Zecca, A., Baudoin, J.P., Faucherre, A., Asakawa, K., Kawakami, K., and Lopez-Schier, H. (2012) Neuronal birth order identifies a dimorphic sensorineural map. The Journal of neuroscience : the official journal of the Society for Neuroscience. 32(9):2976-2987
- Xing, L., Hoshijima, K., Grunwald, D.J., Fujimoto, E., Quist, T.S., Sneddon, J., Chien, C.B., Stevenson, T.J., and Bonkowsky, J.L. (2012) Zebrafish foxP2 Zinc Finger Nuclease Mutant Has Normal Axon Pathfinding. PLoS One. 7(8):e43968
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