ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 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 act upstream of or within transmembrane transport. Predicted to be located in membrane and mitochondrion. Predicted to be active in mitochondrial inner membrane. Is expressed in several structures, including anterior neural keel; central nervous system; neural plate; neural tube; and pronephros. Human ortholog(s) of this gene implicated in Asperger syndrome; autistic disorder; and developmental and epileptic encephalopathy 39. 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
-
- cb1094 (16 images)
- cb929 (6 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
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Mitochondrial carrier protein | Mitochondrial Solute Carrier |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6PFM3 | InterPro | 682 |
- Genome Browsers
| 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
- Genome Browsers