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Gene: SLC25A12 (solute carrier family 25 member 12) Homo sapiens
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Symbol: SLC25A12
Name: solute carrier family 25 member 12
Description: Exhibits acidic amino acid transmembrane transporter activity; calcium ion binding activity; and identical protein binding activity. Involved in acidic amino acid transport; malate-aspartate shuttle; and response to calcium ion. Localizes to the mitochondrion. Implicated in Asperger syndrome; autistic disorder; and early infantile epileptic encephalopathy 39. Biomarker of autism spectrum disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGC1; araceli hiperlarga; ARALAR; calcium binding mitochondrial carrier superfamily member Aralar1; calcium-binding mitochondrial carrier protein Aralar1; EIEE39; mitochondrial aspartate glutamate carrier 1; solute carrier family 25 (aspartate/glutamate carrier), member 12; solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Orthologs:
Mus musculus (house mouse) : Slc25a12 (solute carrier family 25 (mitochondrial carrier, Aralar), member 12)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc25a12 (solute carrier family 25 member 12)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc25a12 (solute carrier family 25 member 12)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC25A12 (solute carrier family 25 member 12)
Canis lupus familiaris (dog) : SLC25A12 (solute carrier family 25 member 12)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc25a12 (solute carrier family 25 member 12)
Sus scrofa (pig) : SLC25A12 (solute carrier family 25 member 12)
Chlorocebus sabaeus (African green monkey) : SLC25A12 (solute carrier family 25 member 12)
Heterocephalus glaber (naked mole-rat) : Slc25a12 (solute carrier family 25 member 12)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2171,783,405 - 171,999,859 (-)Ensembl
GRCh382171,783,405 - 171,894,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372172,639,915 - 172,750,816 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362172,349,126 - 172,458,979 (-)NCBINCBI36hg18NCBI36
Build 342172,466,387 - 172,576,240NCBI
Celera2166,256,502 - 166,367,904 (-)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2164,525,268 - 164,635,693 (-)NCBIHuRef
CHM1_12172,646,763 - 172,757,956 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC25A12
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1313056
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.