Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10165
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A13
Synonyms (NCBI Gene) Gene synonyms aliases
ARALAR2, CITRIN, CTLN2, NICCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CTLN2, NICCD
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs80338715 C>T Pathogenic Synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs80338716 G>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs80338717 C>T Pathogenic, likely-pathogenic Intron variant
rs80338718 C>G Pathogenic Splice donor variant
rs80338719 G>A,T Pathogenic Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001594 hsa-let-7b-5p pSILAC 18668040
MIRT027664 hsa-miR-98-5p Microarray 19088304
MIRT001594 hsa-let-7b-5p Proteomics;Other 18668040
MIRT001594 hsa-let-7b-5p CLASH 23622248
MIRT047732 hsa-miR-10a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005313 Function L-glutamate transmembrane transporter activity IBA 21873635
GO:0005313 Function L-glutamate transmembrane transporter activity IDA 11566871
GO:0005509 Function Calcium ion binding IDA 10642534, 25410934
GO:0005739 Component Mitochondrion IDA 10642534, 11566871
GO:0005743 Component Mitochondrial inner membrane ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603859 10983 ENSG00000004864
Protein
UniProt ID Q9UJS0
Protein name Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (Calcium-binding mitochondrial carrier protein Aralar2) (ARALAR-related gene 2) (ARALAR2) (Citrin) (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13)
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:38945283). Also mediates the upt
PDB 4P5W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 325 423 Mitochondrial carrier protein Family
PF00153 Mito_carr 424 515 Mitochondrial carrier protein Family
PF00153 Mito_carr 516 611 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10642534}.
Sequence
MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVEL
LSGVVDQTKDGLISFQEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTT
IHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQLEHAKQAFVQRDNARTGRVTA
IDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNNMELIRKIYSTL
AGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGT
LPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQR
STGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFM
HKD
GSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFF
GIYKGAKACFLRDIPFSAIYFPCYAHVKASFANED
GQVSPGSLLLAGAIAGMPAASLVTP
ADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTY
ELLQRWFYIDF
GGVKPMGSEPVPKSRINLPAPNPDHVGGYKLAVATFAGIENKFGLYLPL
FKPSVSTSKAIGGGP
Sequence length 675
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Gluconeogenesis
Aspartate and asparagine metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Citrin deficiency Citrin deficiency rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs80338721, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs80338720, rs746155190
View all (15 more)
24586645, 10369257, 12512993, 27577219, 21507300, 27405544, 23022256, 22710133, 14680984, 19036621, 21134364
Citrullinemia CITRULLINEMIA, TYPE II, NEONATAL-ONSET, Adult-onset citrullinemia type 2, Citrullinemia type II rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs121908636, rs121908638, rs121908639, rs121908640, rs121908641, rs121908642, rs121908643, rs121908644, rs121908645, rs121908646
View all (91 more)
27604308, 11793471, 12424587, 21507300, 24327139, 24161253, 17880783, 16449956, 10369257, 21134364, 21424115, 11281457, 15050970, 19470249, 19036621
View all (3 more)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Pancreatitis Pancreatitis ClinVar
Citrin Deficiency citrin deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35238419, 37047726
Adult onset citrullinemia type 2 Associate 11566871, 12132524, 12512993, 14606711, 17000460, 18162705, 21979481, 22095253, 22892490, 23067347, 23394329, 24069319, 24282362, 24586645, 25110155
View all (18 more)
Adult onset citrullinemia type 2 Inhibit 20118603, 21908947, 28003588
Blood Coagulation Disorders Associate 37146272
Carcinoma Hepatocellular Associate 12512993, 14606711, 17000460, 21767414, 30995827
Cholestasis Intrahepatic Associate 18162705, 20458766, 22892490, 23067347, 23901231, 27706244, 33497767, 37146272
Citrullinemia Associate 17000460, 22892490
Colorectal Neoplasms Associate 27924922
Consciousness Disorders Associate 12132524
Esophageal Atresia Associate 25216257