Gene
cntnap5a
- ID
- ZDB-GENE-081105-126
- Name
- contactin associated protein family member 5a
- Symbol
- cntnap5a Nomenclature History
- Previous Names
-
- si:dkey-155f10.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Acts upstream of or within retina homeostasis. Predicted to be located in membrane. Orthologous to human CNTNAP5 (contactin associated protein family member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
---|---|---|---|---|---|
la029562Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa21481 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa21482 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa21483 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa27395 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa31711 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa34635 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa41413 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa45356 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-cntnap5a | (2) | |
MO1-cntnap5a | N/A | Chakraborty et al., 2024 |
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Human Disease
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 |
Family | IPR050372 | Neurexin-related cell adhesion and synaptic protein |
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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 |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AW13 | InterPro | 1306 | ||||||||
UniProtKB:A0A8M3BCG4 | InterPro | 747 | ||||||||
UniProtKB:A0A8M9PLE3 | InterPro | 1306 | ||||||||
UniProtKB:A0AB32TXX5 | InterPro | 1233 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cntnap5a-201
(1)
|
Ensembl | 4,122 nt | ||
mRNA |
cntnap5a-202
(1)
|
Ensembl | 3,839 nt | ||
ncRNA |
cntnap5a-002
(1)
|
Ensembl | 540 nt | ||
ncRNA |
cntnap5a-003
(1)
|
Ensembl | 621 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-155F10 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068223603 (1) | 6542 nt | ||
Genomic | GenBank:CR392363 (1) | 236488 nt | ||
Polypeptide | UniProtKB:A0A8M3AW13 (1) | 1306 aa |
- Chakraborty, S., Sarma, J., Roy, S.S., Mitra, S., Bagchi, S., Das, S., Saha, S., Mahapatra, S., Bhattacharjee, S., Maulik, M., Acharya, M. (2024) Functional investigation suggests CNTNAP5 involvement in glaucomatous neurodegeneration obtained from a GWAS in primary angle closure glaucoma. PLoS Genetics. 20:e1011502e1011502
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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