Community Action Needed: Please respond to the NIH RFI
Gene

slc25a12

ID
ZDB-GENE-031006-11
Name
solute carrier family 25 member 12
Symbol
slc25a12 Nomenclature History
Previous Names
  • Aralar (1)
  • cb929 (1)
  • cb1094 (1)
  • wu:fj94c07
  • zgc:66248
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
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 mitochondrial inner membrane. Predicted to be integral component of 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
Expression
All Expression Data
13 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc25a12 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 39 Alliance Developmental and epileptic encephalopathy 39 612949
Associated With slc25a12 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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 substrate/solute carrier
UniProtKB:Q6PFM3 682
UniProtKB:A0A0R4II73 660
UniProtKB:A0A0R4IHT0 682
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations