Gene
slc6a5
- ID
- ZDB-GENE-050105-2
- Name
- solute carrier family 6 member 5
- Symbol
- slc6a5 Nomenclature History
- Previous Names
-
- glyt2 (2)
- si:dkey-7n10.12
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have glycine:sodium symporter activity. Predicted to be involved in glycine import across plasma membrane and glycinergic synaptic transmission. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in hyperekplexia 3. Is expressed in central nervous system and glycinergic neurons. Orthologous to human SLC6A5 (solute carrier family 6 member 5).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 25 figures from 17 publications
- 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 |
---|---|---|---|
hyperekplexia 3 | Alliance | Hyperekplexia 3 | 614618 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Sodium:neurotransmitter symporter | Sodium:neurotransmitter symporter superfamily |
---|---|---|---|
UniProtKB:A0A2R8Q8E9
|
778 | ||
UniProtKB:A0A8M3ATZ4
|
460 | ||
UniProtKB:Q5W8I5
|
786 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
slc6a5-201
(1)
|
Ensembl | 3,118 nt | ||
mRNA |
slc6a5-202
(1)
|
Ensembl | 7,488 nt |
Interactions and Pathways
No data available
Plasmids
No data available