ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- 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
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
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:A0AB32TQS5 | InterPro | 1130 | ||||
| UniProtKB:A0AB32TQU5 | InterPro | 1131 | ||||
| UniProtKB:A0AB32TU49 | InterPro | 1120 | ||||
| UniProtKB:A0AB32TW26 | InterPro | 1111 | ||||
| UniProtKB:A0AB32TXN2 | InterPro | 1140 | ||||
| UniProtKB:A0AC58JWE2 | InterPro | 1145 | ||||
| UniProtKB:A0AC58JWF0 | InterPro | 1131 | ||||
| UniProtKB:A0AC58JWF1 | InterPro | 1125 | ||||
| UniProtKB:A0AC58JWF7 | InterPro | 1131 | ||||
| UniProtKB:A0AC58JWF8 | InterPro | 1014 | ||||
| UniProtKB:A0AC58JWG9 | InterPro | 1006 | ||||
| UniProtKB:A0AC58JWJ8 | InterPro | 1135 | ||||
| UniProtKB:A0AC58JWK6 | InterPro | 1136 | ||||
| UniProtKB:A0AC58JWK8 | InterPro | 1116 |
- Genome Browsers
| 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
- Genome Browsers