Gene
ptk7a
- ID
- ZDB-GENE-050522-216
- Name
- protein tyrosine kinase 7a
- Symbol
- ptk7a Nomenclature History
- Previous Names
-
- ptk7 (1)
- zgc:112211
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable kinase activity. Acts upstream of or within several processes, including Wnt signaling pathway, planar cell polarity pathway; cerebrospinal fluid circulation; and negative regulation of canonical Wnt signaling pathway. Is expressed in head; nervous system; neural tube; somite; and tail bud. Used to study idiopathic scoliosis and scoliosis. Orthologous to human PTK7 (protein tyrosine kinase 7 (inactive)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hsc9 | Allele with one deletion | Exon 16 | Frameshift, Premature Stop | zinc finger nuclease | |
| sa10484 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37573 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37574 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| udm400 | Allele with one deletion | Exon 1 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ptk7a | Wang et al., 2022 | |
| CRISPR2-ptk7a | Wang et al., 2022 | |
| CRISPR3-ptk7a | Wang et al., 2022 | |
| CRISPR4-ptk7a | Wang et al., 2022 | |
| CRISPR5-ptk7a | (2) |
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Human Disease
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q502I0 | InterPro | 231 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(foxj1a:ptk7a,cryaa:EGFP) |
|
| 4 | (2) | |
| Tg(Xla.Cryg:LOXP-EGFP,foxj1a:ptk7a-LOXP-mCherry) |
| 2 | Van Gennip et al., 2018 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-174J2 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-283E23 | ||
| Contained in | Fosmid | CH1073-288I10 | ||
| Encodes | cDNA | MGC:112211 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001020665 (1) | 1316 nt | ||
| Genomic | GenBank:CU638692 (2) | 82280 nt | ||
| Polypeptide | UniProtKB:Q502I0 (1) | 231 aa |
- Wang, M., Zhao, S., Shi, C., Guyot, M.C., Liao, M., Tauer, J.T., Willie, B.M., Cobetto, N., Aubin, C.É., Küster-Schöck, E., Drapeau, P., Zhang, J., Wu, N., Kibar, Z. (2024) Planar cell polarity zebrafish models of congenital scoliosis reveal novel underlying defects in notochord morphogenesis. Development (Cambridge, England). 151(21):
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Meyer-Miner, A., Van Gennip, J.L.M., Henke, K., Harris, M.P., Ciruna, B. (2022) Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a new katnb1 scoliosis model. iScience. 25:105028
- Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
- Rose, C.D., Pompili, D., Henke, K., Van Gennip, J.L.M., Meyer-Miner, A., Rana, R., Gobron, S., Harris, M.P., Nitz, M., Ciruna, B. (2020) SCO-Spondin Defects and Neuroinflammation Are Conserved Mechanisms Driving Spinal Deformity across Genetic Models of Idiopathic Scoliosis. Current biology : CB. 30(12):2363-2373.e6
- Van Gennip, J.L.M., Boswell, C.W., Ciruna, B. (2018) Neuroinflammatory signals drive spinal curve formation in zebrafish models of idiopathic scoliosis. Science advances. 4:eaav1781
- 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
- Boswell, C.W., Ciruna, B. (2017) Understanding Idiopathic Scoliosis: A New Zebrafish School of Thought. Trends in genetics : TIG. 33(3):183-196
- Grimes, D.T., Boswell, C.W., Morante, N.F., Henkelman, R.M., Burdine, R.D., Ciruna, B. (2016) Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature. Science (New York, N.Y.). 352:1341-4
- 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
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