Gene
kcnq5a
- ID
- ZDB-GENE-090312-185
- Name
- potassium voltage-gated channel, KQT-like subfamily, member 5a
- Symbol
- kcnq5a Nomenclature History
- Previous Names
-
- si:dkey-29l6.1
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to act upstream of or within monoatomic ion transmembrane transport and potassium ion transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Is expressed in central nervous system and eye. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 46. Orthologous to human KCNQ5 (potassium voltage-gated channel subfamily Q member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 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 |
|---|---|---|---|---|---|
| re19 | Allele with one delins | Exon 2 | Unknown | CRISPR | |
| sa9563 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11293 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22313 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35500 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42212 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 46 | Alliance | Intellectual developmental disorder, autosomal dominant 46 | 617601 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ, C-terminal | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QG06 | InterPro | 938 | ||||
| UniProtKB:A0A8M9PYN5 | InterPro | 1011 | ||||
| UniProtKB:A0A8M9QK86 | InterPro | 1030 | ||||
| UniProtKB:A0A8M9QAC3 | InterPro | 957 | ||||
| UniProtKB:A0AB32SZU7 | InterPro | 1009 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnq5a-201
(1)
|
Ensembl | 3,353 nt | ||
| mRNA |
kcnq5a-202
(1)
|
Ensembl | 2,790 nt | ||
| mRNA |
kcnq5a-203
(1)
|
Ensembl | 518 nt | ||
| mRNA |
kcnq5a-204
(1)
|
Ensembl | 1,353 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-14M15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-22C20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-29L6 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068213051 (1) | 3871 nt | ||
| Genomic | GenBank:CR354543 (1) | 140709 nt | ||
| Polypeptide | UniProtKB:A0A8M9QK86 (1) | 1030 aa |
- Quint, W.H., Tadema, K.C.D., Kokke, N.C.C.J., Meester-Smoor, M.A., Miller, A.C., Willemsen, R., Klaver, C.C.W., Iglesias, A.I. (2023) Post-GWAS screening of candidate genes for refractive error in mutant zebrafish models. Scientific Reports. 13:20172017
- Barta, C.L., Liu, H., Chen, L., Giffen, K.P., Li, Y., Kramer, K.L., Beisel, K.W., He, D.Z. (2018) RNA-seq transcriptomic analysis of adult zebrafish inner ear hair cells. Scientific data. 5:180005
- Pradhan, A., Ivarsson, P., Ragnvaldsson, D., Berg, H., Jass, J., Olsson, P.E. (2017) Transcriptional responses of zebrafish to complex metal mixtures in laboratory studies overestimates the responses observed with environmental water. The Science of the total environment. 584-585:1138-1146
- Watanabe, T., Shimazaki, T., Oda, Y. (2017) Coordinated Expression of Two Types of Low-Threshold K+ Channels Establishes Unique Single Spiking of Mauthner Cells among Segmentally Homologous Neurons in the Zebrafish Hindbrain.. eNeuro. 4(5)
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Chege, S.W., Hortopan, G.A., Dinday, M., and Baraban, S.C. (2012) Expression and function of KCNQ channels in larval zebrafish. Developmental Neurobiology. 72(2):186-98
- Sundström, G., Dreborg, S., and Larhammar, D. (2010) Concomitant duplications of opioid peptide and receptor genes before the origin of jawed vertebrates. PLoS One. 5(5):e10512
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