Gene
slc25a12
- ID
- ZDB-GENE-031006-11
- Name
- solute carrier family 25 member 12
- Symbol
- slc25a12 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have L-aspartate transmembrane transporter activity and L-glutamate transmembrane transporter activity. Predicted to be involved in L-glutamate transmembrane transport; aspartate transmembrane transport; and malate-aspartate shuttle. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Asperger syndrome; autistic disorder; and early infantile epileptic encephalopathy 39. Is expressed in several structures, including anterior neural keel; central nervous system; neural plate; neural tube; and pronephros. Orthologous to human SLC25A12 (solute carrier family 25 member 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb929 (6 images)
- cb1094 (16 images)
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 39 | Alliance | Developmental and epileptic encephalopathy 39 | 612949 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR002048 | EF-hand domain |
| Family | IPR002067 | Mitochondrial carrier protein |
| Family | IPR051028 | Mitochondrial Solute Carrier |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR023395 | Mitochondrial carrier domain superfamily |
| Repeat | IPR018108 | Mitochondrial substrate/solute carrier |
Domain Details Per Protein
| Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Mitochondrial carrier domain superfamily | Mitochondrial carrier protein | Mitochondrial Solute Carrier | Mitochondrial substrate/solute carrier |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6PFM3
|
682 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc25a12-202
(1)
|
Ensembl | 2,682 nt | ||
| mRNA |
slc25a12-203
(1)
|
Ensembl | 2,793 nt | ||
| ncRNA |
ottdart00000061821
(1)
|
Ensembl | 777 nt |
Interactions and Pathways
No data available
Plasmids
No data available