Gene
slc12a5a
- ID
- ZDB-GENE-120927-3
- Name
- solute carrier family 12 member 5a
- Symbol
- slc12a5a Nomenclature History
- Previous Names
-
- kcc2a (1)
- si:ch211-59d13.2
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable potassium:chloride symporter activity. Predicted to be involved in several processes, including chloride ion homeostasis; monoatomic ion transmembrane transport; and potassium ion homeostasis. Predicted to act upstream of or within potassium ion transport and transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 34. Orthologous to human SLC12A5 (solute carrier family 12 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 |
|---|---|---|---|---|---|
| sa13981 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20830 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31545 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44651 | Allele with one point mutation | Unknown | Unknown | ENU | |
| zf2068 | Allele with one deletion | Exon 4 | Unknown | TALEN |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-slc12a5a | (2) | |
| CRISPR2-slc12a5a | LaCoursiere et al., 2024 | |
| CRISPR3-slc12a5a | Naderi et al., 2024 | |
| CRISPR4-slc12a5a | Naderi et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 34 | Alliance | Developmental and epileptic encephalopathy 34 | 616645 |
| {Epilepsy, idiopathic generalized, susceptibility to, 14} | 616685 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0AB32TQS5 | InterPro | 1130 |
| UniProtKB:A0AB32TQU5 | InterPro | 1131 |
| UniProtKB:A0AB32TU49 | InterPro | 1120 |
| UniProtKB:A0AB32TW26 | InterPro | 1111 |
| UniProtKB:A0AB32TXN2 | InterPro | 1140 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc12a5a-201
(1)
|
Ensembl | 3,863 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-59D13 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068222078 (1) | 4700 nt | ||
| Genomic | GenBank:CR847793 (1) | 181161 nt | ||
| Polypeptide | UniProtKB:A0AB32TXN2 (1) | 1140 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Naderi, M., Nguyen, T.M.N., Pompili, C., Kwong, R.W.M. (2024) Unraveling the socio-cognitive consequences of KCC2 disruption in zebrafish: implications for neurodevelopmental disorders and therapeutic interventions. Frontiers in molecular neuroscience. 17:14832381483238
- 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
- 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
- Stödberg, T., McTague, A., Ruiz, A.J., Hirata, H., Zhen, J., Long, P., Farabella, I., Meyer, E., Kawahara, A., Vassallo, G., Stivaros, S.M., Bjursell, M.K., Stranneheim, H., Tigerschiöld, S., Persson, B., Bangash, I., Das, K., Hughes, D., Lesko, N., Lundeberg, J., Scott, R.C., Poduri, A., Scheffer, I.E., Smith, H., Gissen, P., Schorge, S., Reith, M.E., Topf, M., Kullmann, D.M., Harvey, R.J., Wedell, A., Kurian, M.A. (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature communications. 6:8038
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