SLC25A13 Gene

HGNC Family	EF-hand domain containing, Solute carriers (SLC)
Name	solute carrier family 25 (aspartate/glutamate carrier), member 13
Description	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 across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe SLC25A13 gene encodes citrin, a liver‐specific mitochondrial aspartate–glutamate carrier (AGC2) that plays a critical role in the malate–aspartate shuttle. By exchanging aspartate from the mitochondrial matrix for cytosolic glutamate (with the concomitant import of a proton), citrin maintains the cytosolic supply of aspartate needed for urea synthesis, nucleotide and protein production, and helps balance the NADH/NAD⁺ ratio necessary for gluconeogenesis and other metabolic pathways. This central metabolic function underscores its importance in hepatic energy metabolism and biosynthetic processes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDeficiency of citrin arising from mutations in SLC25A13 manifests clinically as two distinct phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult‐onset type II citrullinemia (CTLN2). The disruption of aspartate export from mitochondria compromises the malate–aspartate shuttle, leading to impaired urea cycle function, hyperammonemia, and aberrant lipid as well as carbohydrate metabolism. These metabolic disturbances contribute to hepatic steatosis and liver injury. In addition, the diverse mutation spectra and geographical distribution of SLC25A13 variants further complicate clinical outcomes and challenge diagnostic procedures, as evidenced by extensive analyses of patient cohorts and mutation‐screening studies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its basic role in metabolite exchange, emerging evidence highlights sophisticated regulatory mechanisms governing SLC25A13 expression. Transcription factors such as FOXA2 and USF1 have been shown to modulate the activity of its promoter, thereby influencing citrin levels in hepatic tissue and impacting metabolic adaptation. In parallel, investigations into allele‐specific transcript diversity and the identification of novel SLC25A13 mutations have broadened the understanding of citrin’s role in maintaining metabolic homeostasis. These insights not only enhance our grasp of the molecular basis underlying CTLN2 and NICCD but also identify citrin as a potential therapeutic target for liver disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "26", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "T Yasuda, N Yamaguchi, K Kobayashi, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Med (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ijmm.2011.653"}], "href": "https://doi.org/10.3892/ijmm.2011.653"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21424115"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21424115"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Giuseppe Fiermonte, Giovanni Parisi, Diego Martinelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2011.08.022"}], "href": "https://doi.org/10.1016/j.ymgme.2011.08.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21914561"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21914561"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0074544"}], "href": "https://doi.org/10.1371/journal.pone.0074544"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24069319"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24069319"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Paolo Convertini, Simona Todisco, Francesco De Santis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 ("}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC25A13"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms20081888"}], "href": "https://doi.org/10.3390/ijms20081888"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30995827"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30995827"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Michiharu Komatsu, Masahide Yazaki, Naoki Tanaka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hepatol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jhep.2008.05.016"}], "href": "https://doi.org/10.1016/j.jhep.2008.05.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18620775"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18620775"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Takeyori Saheki, Kanako Inoue, Anmi Tushima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Citrin deficiency and current treatment concepts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2010.02.014"}], "href": "https://doi.org/10.1016/j.ymgme.2010.02.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20233664"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20233664"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Masaaki Miyo, Masamitsu Konno, Naohiro Nishida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabolic Adaptation to Nutritional Stress in Human Colorectal Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep38415"}], "href": "https://doi.org/10.1038/srep38415"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27924922"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27924922"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "K Mutoh, K Kurokawa, K Kobayashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10545-008-0914-x"}], "href": "https://doi.org/10.1007/s10545-008-0914-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18958581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18958581"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Wei-Xia Lin, Han-Shi Zeng, Zhan-Hui Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep29732"}], "href": "https://doi.org/10.1038/srep29732"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27405544"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27405544"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2011.12.024"}], "href": "https://doi.org/10.1016/j.ymgme.2011.12.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22277121"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22277121"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Hironori Nagasaka, Yoshiyuki Okano, Hirokazu Tsukahara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2009.01.009"}], "href": "https://doi.org/10.1016/j.ymgme.2009.01.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19232506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19232506"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Daisuke Tokuhara, Mikio Iijima, Akiko Tamamori, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2006.09.009"}], "href": "https://doi.org/10.1016/j.ymgme.2006.09.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17092749"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17092749"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Ching-Wei Tsai, Chih-Chao Yang, Huey-Ling Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Formos Med Assoc (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0929-6646(09)60274-6"}], "href": "https://doi.org/10.1016/S0929-6646(09"}, {"type": "t", "text": "60274-6) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17000460"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17000460"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Hitoshi Takagi, Satoshi Hagiwara, Hiroaki Hashizume, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hepatol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jhep.2005.08.024"}], "href": "https://doi.org/10.1016/j.jhep.2005.08.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16278034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16278034"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Jung Min Ko, Gu-Hwan Kim, Ju-Hyun Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Six cases of citrin deficiency in Korea."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Med (2007)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17982687"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17982687"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Hye In Woo, Hyung-Doo Park, Yong-Wha Lee "}, {"type": "b", "children": [{"type": "t", "text": "Molecular genetics of citrullinemia types I and II."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Chim Acta (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cca.2014.01.032"}], "href": "https://doi.org/10.1016/j.cca.2014.01.032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24508627"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24508627"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Rui Chen, Xiao-Hong Wang, Hai-Yan Fu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Gastroenterol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3748/wjg.v19.i28.4545"}], "href": "https://doi.org/10.3748/wjg.v19.i28.4545"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23901231"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23901231"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Suporn Treepongkaruna, Suttiruk Jitraruch, Porawee Kodcharin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Gastroenterol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-230X-12-141"}], "href": "https://doi.org/10.1186/1471-230X-12-141"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23067347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23067347"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Parith Wongkittichote, Chonlaphat Sukasem, Atsuo Kikuchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Screening of SLC25A13 mutation in the Thai population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Gastroenterol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3748/wjg.v19.i43.7735"}], "href": "https://doi.org/10.3748/wjg.v19.i43.7735"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24282362"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24282362"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Ya-zhi Xing, Wen-juan Qiu, Jun Ye, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2010.02.014"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2010.02.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20376801"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20376801"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Jing-Ting Lin, Kwang-Jen Hsiao, Chiung-Yu Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Chim Acta (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cca.2010.11.027"}], "href": "https://doi.org/10.1016/j.cca.2010.11.027"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21134364"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21134364"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Kuei-Wen Chang, Huey-Ling Chen, Yin-Hsiu Chien, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2011.03.013"}], "href": "https://doi.org/10.1016/j.ymgme.2011.03.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21470889"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21470889"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Sha Li, Hong Yang, Wan Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADH1C inhibits progression of colorectal cancer through the ADH1C/PHGDH /PSAT1/serine metabolic pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Pharmacol Sin (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41401-022-00894-7"}], "href": "https://doi.org/10.1038/s41401-022-00894-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35354963"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35354963"}]}]}]}
Synonyms	CITRIN, ARALAR2, CTLN2
Proteins	CMC2_HUMAN
NCBI Gene ID	10165
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SLC25A13 has 10,838 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 134 datasets.

Click the + buttons to view associations for SLC25A13 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SLC25A13 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by SLC25A13 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC25A13 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC25A13 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SLC25A13 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SLC25A13 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SLC25A13 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC25A13 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SLC25A13 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SLC25A13 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SLC25A13 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SLC25A13 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC25A13 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SLC25A13 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SLC25A13 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SLC25A13 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC25A13 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SLC25A13 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SLC25A13 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with SLC25A13 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SLC25A13 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SLC25A13 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SLC25A13 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SLC25A13 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SLC25A13 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SLC25A13 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SLC25A13 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SLC25A13 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SLC25A13 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC25A13 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SLC25A13 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SLC25A13 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SLC25A13 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SLC25A13 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving SLC25A13 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SLC25A13 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SLC25A13 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SLC25A13 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SLC25A13 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SLC25A13 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SLC25A13 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.