Gene
kcnh5b
- ID
- ZDB-GENE-090319-1
- Name
- potassium voltage-gated channel, subfamily H (eag-related), member 5b
- Symbol
- kcnh5b Nomenclature History
- Previous Names
- 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 and regulation of membrane potential. Predicted to act upstream of or within monoatomic ion transmembrane transport and potassium ion transport. Predicted to be located in membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human KCNH5 (potassium voltage-gated channel subfamily H 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 |
|---|---|---|---|---|---|
| sa10517 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13966 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15450 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22359 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31956 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35563 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Developmental and epileptic encephalopathy 112 | 620537 |
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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 | PAC motif | PAS-associated, C-terminal | PAS domain | PAS domain superfamily | Potassium channel, voltage-dependent, EAG | Potassium channel, voltage-dependent, EAG/ELK/ERG-like | Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RRD3 | InterPro | 1005 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnh5b-201
(1)
|
Ensembl | 2,889 nt | ||
| mRNA |
kcnh5b-202
(1)
|
Ensembl | 2,025 nt | ||
| mRNA |
kcnh5b-203
(1)
|
Ensembl | 2,934 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 | CH211-251M13 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-77C8 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002664207 (1) | 4762 nt | ||
| Genomic | GenBank:AL845493 (1) | 176916 nt | ||
| Polypeptide | UniProtKB:A0A8M1RRD3 (1) | 1005 aa |
- Comparative Orthology
- Alliance
- 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
- Stengel, R., Rivera-Milla, E., Sahoo, N., Ebert, C., Bollig, F., Heinemann, S.H., Schonherr, R., and Englert, C. (2012) Kcnh1 voltage-gated potassium channels are essential for early zebrafish development. The Journal of biological chemistry. 287(42):35565-35575
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