Gene
slc12a5b
- ID
- ZDB-GENE-080707-1
- Name
- solute carrier family 12 member 5b
- Symbol
- slc12a5b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable potassium:chloride symporter activity. Acts upstream of or within posterior lateral line neuromast development and retina development in camera-type eye. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in nervous system. 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
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hcp1Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| la016371Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa9823 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17824 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41263 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf2069 | Allele with multiple variants | Unknown | Unknown | TALEN |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-slc12a5b | Jones et al., 2022 | |
| CRISPR2-slc12a5b | LaCoursiere et al., 2024 | |
| CRISPR3-slc12a5b | LaCoursiere et al., 2024 | |
| MO1-slc12a5b | N/A | (3) |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Amino acid permease/ SLC12A domain | K/Cl co-transporter | SLC12A transporter, C-terminal | SLC12A transporter family |
|---|---|---|---|---|---|---|
| UniProtKB:M1EVR1 | InterPro | 1117 | ||||
| UniProtKB:A0A8M3B534 | InterPro | 1126 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc12a5b-201
(1)
|
Ensembl | 7,709 nt | ||
| mRNA |
slc12a5b-202
(1)
|
Ensembl | 3,441 nt | ||
| mRNA |
slc12a5b-203
(1)
|
Ensembl | 7,796 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-253E7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001302243 (1) | |||
| Genomic | GenBank:CR450833 (1) | 213777 nt | ||
| Polypeptide | UniProtKB:A0A8M3B534 (1) | 1126 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
- Jones, E.F., Butler, M.G., Trendafilova, D., Mendez, M.S., Jernigan, L.A., Gahtan, E., Steele, J. (2022) In vivo tracking of KCC2b expression during early brain development. The Journal of comparative neurology. 531(1):48-57
- Probst, J., Kölker, S., Okun, J.G., Kumar, A., Gursky, E., Posset, R., Hoffmann, G.F., Peravali, R., Zielonka, M. (2020) Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae. Experimental neurology. 331:113330
- Samarut, É., Swaminathan, A., Riché, R., Liao, M., Hassan-Abdi, R., Renault, S., Allard, M., Dufour, L., Cossette, P., Soussi-Yanicostas, N., Drapeau, P. (2018) γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment. Epilepsia. 59(11):2061-2074
- Swaminathan, A., Hassan-Abdi, R., Renault, S., Siekierska, A., Riché, R., Liao, M., de Witte, P.A.M., Yanicostas, C., Soussi-Yanicostas, N., Drapeau, P., Samarut, É. (2018) Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development. Current biology : CB. 28(12):1924-1937.e5
- Theisen, U., Hennig, C., Ring, T., Schnabel, R., Köster, R.W. (2018) Neurotransmitter-mediated activity spatially controls neuronal migration in the zebrafish cerebellum. PLoS Biology. 16:e2002226
- Theisen, U., Hey, S., Hennig, C.D., Schnabel, R., Köster, R.W. (2018) Glycine is able to induce both a motility speed in- and decrease during zebrafish neuronal migration. Communicative & integrative biology. 11:1-7
- 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
- Cocco, A., Carolina Rönnberg, A.M., Jin, Z., André, G.I., Vossen, L.E., Bhandage, A.K., Thörnqvist, P.O., Birnir, B., Winberg, S. (2017) Characterisation of the γ-aminobutyric acid signalling system in the zebrafish (Danio rerio Hamilton) central nervous system by reverse transcription quantitative polymerase chain reaction. Neuroscience. 343:300-321
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