Gene
kcnh6a
- ID
- ZDB-GENE-040702-5
- Name
- potassium voltage-gated channel, subfamily H (eag-related), member 6a
- Symbol
- kcnh6a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Enables voltage-gated potassium channel activity. Acts upstream of or within several processes, including heart contraction; membrane repolarization during cardiac muscle cell action potential; and regulation of ventricular cardiac muscle cell membrane repolarization. Predicted to be located in membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; gill; immune system; and muscle. Used to study long QT syndrome; long QT syndrome 2; and short QT syndrome. Orthologous to human KCNH6 (potassium voltage-gated channel subfamily H member 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 30 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| m230 | Allele with one point mutation | Exon 8 | Missense | ENU | |
| s213 | Allele with one point mutation | Unknown | Missense | ENU | |
| s290 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa17340 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tb218 | Allele with one point mutation | Exon 2 | Missense | ENU | |
| z46Tg | Transgenic insertion | Unknown | Unknown | TALEN | |
| z47 | Allele with one deletion | Unknown | Unknown | not specified |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-kcnh6a | Hoshijima et al., 2019 | |
| CRISPR2-kcnh6a | Ma et al., 2024 | |
| CRISPR3-kcnh6a | Ma et al., 2024 | |
| MO1-kcnh6a | N/A | (5) |
| MO2-kcnh6a | N/A | (4) |
| MO3-kcnh6a | N/A | (3) |
| MO4-kcnh6a | N/A | (2) |
| TALEN1-kcnh6a | (2) |
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Human Disease
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cyclic nucleotide-binding domain | Cyclic nucleotide-binding domain superfamily | Ion transport domain | PAS domain | PAS domain superfamily | Potassium channel, voltage-dependent, EAG/ELK/ERG-like | Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type | Potassium channel, voltage-dependent, ERG | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BBD6 | InterPro | 1185 | |||||||||
| UniProtKB:A0A8M3AQY1 | InterPro | 856 | |||||||||
| UniProtKB:Q8JH78 | InterPro | 1186 | |||||||||
| UniProtKB:A0A8M2BBB6 | InterPro | 915 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnh6a-201
(1)
|
Ensembl | 4,583 nt | ||
| mRNA |
kcnh6a-202
(1)
|
Ensembl | 4,931 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-15N1 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-194J22 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194341 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212837 (1) | 4592 nt | ||
| Genomic | GenBank:BX324157 (1) | 272769 nt | ||
| Polypeptide | UniProtKB:Q8JH78 (1) | 1186 aa |
- Ma, J., Zhang, W., Rahimialiabadi, S., Ganesh, N.U., Sun, Z., Parvez, S., Peterson, R.T., Yeh, J.J. (2024) Instantaneous visual genotyping and facile site-specific transgenesis via CRISPR-Cas9 and phiC31 integrase. Biology Open. 13(9):
- Chiang, D.Y., Verkerk, A.O., Victorio, R., Shneyer, B.I., van der Vaart, B., Jouni, M., Narendran, N., Kc, A., Sampognaro, J.R., Vetrano-Olsen, F., Oh, J.S., Buys, E., de Jonge, B., Shah, D.A., Kiviniemi, T., Burridge, P.W., Bezzina, C.R., Akhmanova, A., MacRae, C.A. (2023) The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction. Circulation research. 134(1):46-59
- Chen, Y., Jia, J., Zhao, Q., Zhang, Y., Huang, B., Wang, L., Tian, J., Huang, C., Li, M., Li, X. (2022) Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress. International Journal of Molecular Sciences. 23(21):
- Cornean, A., Gierten, J., Welz, B., Mateo, J.L., Thumberger, T., Wittbrodt, J. (2022) Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction. eLIFE. 11:
- Fang, C., Wang, P., Yu, D., Zhang, X., Gou, D., Liang, L., Bai, X., Xie, W., Li, H., Pu, J., Yao, Y., Wang, B., Ren, X., Ke, T., Tu, X., Xu, C., Wang, Q.K. (2022) Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance. Circulation. Genomic and precision medicine. 15(5):e003603
- Duong, T., Rose, R., Blazeski, A., Fine, N., Woods, C.E., Thole, J.F., Sotoodehnia, N., Soliman, E.Z., Tung, L., McCallion, A.S., Arking, D.E. (2021) Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish. Disease models & mechanisms. 14(8):
- Marchal, G.A., Jouni, M., Chiang, D.Y., Pérez-Hernández Duran, M., Podliesna, S., Yu, N., Casini, S., Potet, F., Veerman, C.C., Klerk, M., Lodder, E.M., Mengarelli, I., Guan, K., Vanoye, C.G., Rothenberg, E., Charpentier, F., Redon, R., George, A., Verkerk, A.O., Bezzina, C.R., MacRae, C.A., Burridge, P., Delmar, M., Galjart, N.J., Portero, V., Remme, C.A. (2021) Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs. Circulation research. 129(3):349-365
- Sharma, S., Rana, A.K., Sharma, A., Singh, D. (2021) Inhibition of Mammalian Target of Rapamycin Attenuates Recurrent Seizures Associated Cardiac Damage in a Zebrafish Kindling Model of Chronic Epilepsy. Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology. 17(1-2):334-349
- Cunha, V., Vogs, C., Le Bihanic, F., Dreij, K. (2020) Mixture effects of oxygenated PAHs and benzo[a]pyrene on cardiovascular development and function in zebrafish embryos. Environment International. 143:105913
- Hoshijima, K., Jurynec, M.J., Klatt Shaw, D., Jacobi, A.M., Behlke, M.A., Grunwald, D.J. (2019) Highly Efficient CRISPR-Cas9-Based Methods for Generating Deletion Mutations and F0 Embryos that Lack Gene Function in Zebrafish. Developmental Cell. 51(5):645-657.e4
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