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
-
- All Expression Data
- 2 figures from 2 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
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
nkhgn39dEt | Transgenic insertion | Unknown | Unknown | DNA | |
s3008 | Allele with one insertion | Unknown | Unknown | CRISPR | |
sa10552 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa37859 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa44117 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa44118 | Allele with one point mutation | Unknown | Splice Site | ENU | |
ya1847 | Allele with one deletion | Exon 3 | Frameshift, Premature Stop | zinc finger nuclease | |
ya2188 | Allele with one deletion | Exon 3 | Frameshift, Premature Stop | zinc finger nuclease |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-cntnap2a | (2) | |
CRISPR2-cntnap2a | Griffin et al., 2021 |
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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:A0A8M3B6M0 | InterPro | 1326 | |||||||||
UniProtKB:L7NKH5 | InterPro | 1316 | |||||||||
UniProtKB:A0AB32TGU6 | InterPro | 1316 |
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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
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 | CH211-207C17 | ZFIN Curated Data | |
Contained in | BAC | CH211-245H5 | ZFIN Curated Data | |
Contained in | BAC | DKEY-117J14 | ZFIN Curated Data | |
Contained in | BAC | DKEY-240A22 | ZFIN Curated Data | |
Contained in | BAC | DKEYP-122B2 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001281991 (1) | 4558 nt | ||
Genomic | GenBank:CR376742 (2) | 206722 nt | ||
Polypeptide | UniProtKB:A0A8M3B6M0 (1) | 1326 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
- Iwasaki, M., Kawakami, K., Wada, H. (2022) Remodeling of the hyomandibular skeleton and facial nerve positioning during embryonic and postembryonic development of teleost fish. Developmental Biology. 489:134-145
- Asgharsharghi, A., Tian, W., Haehnel-Taguchi, M., López-Schier, H. (2021) Sarm1 is dispensable for mechanosensory-motor transformations in zebrafish. microPublication. Biology. 2021:
- 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
- Manuel, R., Iglesias Gonzalez, A.B., Habicher, J., Koning, H.K., Boije, H. (2021) Characterization of Individual Projections Reveal That Neuromasts of the Zebrafish Lateral Line are Innervated by Multiple Inhibitory Efferent Cells. Frontiers in Neuroanatomy. 15:666109
- Odstrcil, I., Petkova, M.D., Haesemeyer, M., Boulanger-Weill, J., Nikitchenko, M., Gagnon, J.A., Oteiza, P., Schalek, R., Peleg, A., Portugues, R., Lichtman, J.W., Engert, F. (2021) Functional and ultrastructural analysis of reafferent mechanosensation in larval zebrafish. Current biology : CB. 32(1):176-189.e5
- Valera, G., Markov, D.A., Bijari, K., Randlett, O., Asgharsharghi, A., Baudoin, J.P., Ascoli, G.A., Portugues, R., López-Schier, H. (2021) A neuronal blueprint for directional mechanosensation in larval zebrafish. Current biology : CB. 31(7):1463-1475.e6
- Iwasaki, M., Yokoi, H., Suzuki, T., Kawakami, K., Wada, H. (2020) Development of the anterior lateral line system through local tissue-tissue interactions in the zebrafish head. Developmental Dynamics : an official publication of the American Association of Anatomists. 249(12):1440-1454
- Tian, W., Czopka, T., López-Schier, H. (2020) Systemic loss of Sarm1 protects Schwann cells from chemotoxicity by delaying axon degeneration. Communications biology. 3:49
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