Gene
slc12a2
- ID
- ZDB-GENE-040625-53
- Name
- solute carrier family 12 member 2
- Symbol
- slc12a2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables chloride:monoatomic cation symporter activity and identical protein binding activity. Acts upstream of or within inner ear morphogenesis and swim bladder inflation. Located in basolateral plasma membrane. Is expressed in several structures, including mesoderm; nervous system; notochord; otic vesicle; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78 and middle cerebral artery infarction. Orthologous to human SLC12A2 (solute carrier family 12 member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152613 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la017407Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa16350 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa21694 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa31771 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tg414b | Allele with one point mutation | Unknown | Splice Site, Exon Loss of Exon 22, Premature Stop | ENU | |
to27d | Allele with one point mutation | Intron 4 | Splice Site, Frameshift, Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-slc12a2 | Shah et al., 2015 | |
MO1-slc12a2 | N/A | Abbas et al., 2009 |
MO2-slc12a2 | N/A | Abbas et al., 2009 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant nonsyndromic deafness 78 | Alliance | Deafness, autosomal dominant 78 | 619081 |
Delpire-McNeill syndrome | 619083 | ||
Kilquist syndrome | 619080 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Amino acid permease, N-terminal | Amino acid permease/ SLC12A domain | SLC12A transporter, C-terminal | SLC12A transporter family | Solute carrier family 12 member 1/2 | Solute carrier family 12 member 2 |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A0G2KTI4 | InterPro PDB | 1136 | ||||||
UniProtKB:A0A8M9PTH8 | InterPro | 1134 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
slc12a2-201
(1)
|
Ensembl | 1,137 nt | ||
mRNA |
slc12a2-202
(1)
|
Ensembl | 3,390 nt | ||
mRNA |
slc12a2-203
(1)
|
Ensembl | 7,453 nt |
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Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-slc12a | monoclonal | IgG1 | Mouse |
|
Developmental Studies Hybridoma Bank
|
5 |
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Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-258N11 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-494H6 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-527G11 | ZFIN Curated Data | |
Encodes | EST | IMAGE:7152613 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:85961 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001002080 (1) | 4333 nt | ||
Genomic | GenBank:CR628409 (2) | 28153 nt | ||
Polypeptide | UniProtKB:A0A0G2KTI4 (1) | 1136 aa |
- Choi, M.K., Cook, A., Mungikar, K., Eachus, H., Tochwin, A., Linke, M., Gerber, S., Ryu, S. (2024) Exposure to elevated glucocorticoid during development primes altered transcriptional responses to acute stress in adulthood. iScience. 27:110160110160
- Jędrychowska, J., Vardanyan, V., Wieczor, M., Marciniak, A., Czub, J., Amini, R., Jain, R., Shen, H., Choi, H., Kuznicki, J., Korzh, V. (2024) Mutant analysis of Kcng4b reveals how the different functional states of the voltage-gated potassium channel regulate ear development. Developmental Biology. 513:50-62
- 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
- Janoš, P., Magistrato, A. (2022) Role of Monovalent Ions in the NKCC1 Inhibition Mechanism Revealed through Molecular Simulations. International Journal of Molecular Sciences. 23(23):
- Jedrychowska, J., Gasanov, E.V., Korzh, V. (2020) Kcnb1 plays a role in development of the inner ear. Developmental Biology. 471:65-75
- Marshall-Phelps, K.L.H., Kegel, L., Baraban, M., Ruhwedel, T., Almeida, R.G., Rubio-Brotons, M., Klingseisen, A., Benito-Kwiecinski, S.K., Early, J.J., Bin, J.M., Suminaite, D., Livesey, M.R., Möbius, W., Poole, R.J., Lyons, D.A. (2020) Neuronal activity disrupts myelinated axon integrity in the absence of NKCC1b. The Journal of cell biology. 219(7)
- 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
- Chew, T.A., Orlando, B.J., Zhang, J., Latorraca, N.R., Wang, A., Hollingsworth, S.A., Chen, D.H., Dror, R.O., Liao, M., Feng, L. (2019) Structure and mechanism of the cation-chloride cotransporter NKCC1. Nature. 572(7770):488-492
- Delpire, E., Guo, J. (2019) The cryo-EM structures of DrNKCC1 and hKCC1: a new milestone in the physiology of cation-chloride cotransporters. American journal of physiology. Cell physiology. 318(2):C225-C237
- 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
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