Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8604
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A12
Synonyms (NCBI Gene) Gene synonyms aliases
AGC1, ARALAR, DEE39, EIEE39
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be asso
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434396 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs142912356 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs886037851 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1553469156 C>T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1573977142 T>G Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT032465 hsa-let-7b-5p Proteomics 18668040
MIRT051393 hsa-let-7f-5p CLASH 23622248
MIRT047856 hsa-miR-30c-5p CLASH 23622248
MIRT039054 hsa-miR-766-3p CLASH 23622248
MIRT707901 hsa-miR-1277-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000514 Function 3-sulfino-L-alanine: proton, glutamate antiporter activity IDA 11566871
GO:0000514 Function 3-sulfino-L-alanine: proton, glutamate antiporter activity IEA
GO:0000515 Function Aspartate:glutamate, proton antiporter activity IDA 11566871, 24515575
GO:0000515 Function Aspartate:glutamate, proton antiporter activity IEA
GO:0005313 Function L-glutamate transmembrane transporter activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603667 10982 ENSG00000115840
Protein
UniProt ID O75746
Protein name Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial (Araceli hiperlarga) (Aralar) (Aralar1) (Mitochondrial aspartate glutamate carrier 1) (Solute carrier family 25 member 12)
Protein function Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575, PubMe
PDB 4P5X , 4P60
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 324 421 Mitochondrial carrier protein Family
PF00153 Mito_carr 422 513 Mitochondrial carrier protein Family
PF00153 Mito_carr 514 609 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:9722566}.
Sequence
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL
AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII
HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
D
GSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADEN
GHVGGLNLLAAGAMAGVPAASLVTPAD
VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
LQRWFYIDF
GGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF
KSPSVAVVQPKAAVAATQ
Sequence length 678
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Gluconeogenesis
Aspartate and asparagine metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 39 rs121434396, rs1553469156, rs1573977142 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Myopia Myopia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 31403263
Carcinoma Hepatocellular Associate 30321589
Demyelinating Autoimmune Diseases CNS Associate 19641205
Demyelinating Diseases Associate 28235644, 31403263
Developmental Disabilities Associate 19641205, 37977948
Diabetic Foot Associate 38287255
Epilepsy Associate 31403263, 36079864, 37865723, 37977948
Hypersensitivity Delayed Associate 31403263
Hypomyelination Global Cerebral Inhibit 19641205, 28235644
Infantile Epileptic Dyskinetic Encephalopathy Associate 28235644