SLC25A38 Gene

HGNC Family	Solute carriers (SLC)
Name	solute carrier family 25, member 38
Description	This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC25A38 encodes a mitochondrial carrier protein that plays a pivotal role in heme biosynthesis by mediating the import of glycine into the mitochondrial matrix. Once imported, glycine condenses with succinyl‐CoA to form δ‐aminolevulinic acid (ALA), the first committed precursor in the heme synthesis pathway. This essential glycine transport function is conserved between yeast Hem25p and its human orthologue and is critical for proper hemoglobin production in erythroid precursors. Disruption of this process leads to mitochondrial iron accumulation—a hallmark of congenital sideroblastic anemias."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in SLC25A38 have emerged as a major cause of autosomal recessive congenital sideroblastic anemia. Patients with pathogenic variants in this gene typically present with a severe, transfusion‐dependent anemia accentuated by iron overload, necessitating long‐term management strategies such as iron chelation therapy. Extensive genetic analyses have broadened the spectrum of SLC25A38 mutations found in affected individuals across different populations, highlighting not only the gene’s central role in erythroid metabolism but also suggesting novel therapeutic approaches. These strategies include supplementation with glycine, 5-aminolevulinic acid, or folate to bypass or ameliorate the biochemical block in heme synthesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRecent studies have further expanded the functional landscape of SLC25A38 beyond erythropoiesis. In several cellular and animal models, altered expression of SLC25A38—often referred to as appoptosin in these contexts—has been linked to increased caspase activation, tau cleavage, and mitochondrial fragmentation, thereby contributing to neuronal apoptosis and neurodegeneration. Moreover, reduced expression of SLC25A38 has been associated with enhanced angiogenesis and metastasis in uveal melanoma via modulation of CBP/HIF-mediated pro-angiogenic pathways. Preliminary observations also raise the possibility that variations in SLC25A38 expression might intersect with neuropsychiatric phenotypes such as hippocampal volume deficits observed in schizophrenia, underscoring the need for further research into its multifaceted roles."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anke K Bergmann, Dean R Campagna, Erin M McLoughlin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Blood Cancer (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pbc.22244"}], "href": "https://doi.org/10.1002/pbc.22244"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19731322"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19731322"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Paola Lunetti, Fabrizio Damiano, Giuseppe De Benedetto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M116.736876"}], "href": "https://doi.org/10.1074/jbc.M116.736876"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27476175"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27476175"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "J Pedro Fernández-Murray, Sergey V Prykhozhij, J Noelia Dufay, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1005783"}], "href": "https://doi.org/10.1371/journal.pgen.1005783"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26821380"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26821380"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Han Zhang, Yun-wu Zhang, Yaomin Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Appoptosin is a novel pro-apoptotic protein and mediates cell death in neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.3668-12.2012"}], "href": "https://doi.org/10.1523/JNEUROSCI.3668-12.2012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23115192"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23115192"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Haematologica (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3324/haematol.2010.039164"}], "href": "https://doi.org/10.3324/haematol.2010.039164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21393332"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21393332"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Cuilin Zhang, Zhun Shi, Lingzhi Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.176792"}], "href": "https://doi.org/10.1242/jcs.176792"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26813789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26813789"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Marie-Amelyne Le Rouzic, Cyrielle Fouquet, Thierry Leblanc, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood Cells Mol Dis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bcmd.2017.07.003"}], "href": "https://doi.org/10.1016/j.bcmd.2017.07.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28772256"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28772256"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Matthew M Heeney, Simon Berhe, Dean R Campagna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.24267"}], "href": "https://doi.org/10.1002/humu.24267"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34298585"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34298585"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Kelsey Uminski, Donald S Houston, Jessica N Hartley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Blood Cancer (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pbc.28623"}], "href": "https://doi.org/10.1002/pbc.28623"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32790119"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32790119"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Maghsood Mehri, Maryam Zarin, Fariba Ardalani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood Cells Mol Dis (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bcmd.2018.02.002"}], "href": "https://doi.org/10.1016/j.bcmd.2018.02.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29499877"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29499877"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Niveditha Ravindra, Rekha Athiyarath, Eswari S, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel frameshift variant (c.409dupG) in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC25A38"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " is a common cause of congenital sideroblastic anaemia in the Indian subcontinent."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Pathol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jclinpath-2020-206647"}], "href": "https://doi.org/10.1136/jclinpath-2020-206647"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32605921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32605921"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Yingjun Zhao, I-Chu Tseng, Charles J Heyser, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuron (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuron.2015.08.020"}], "href": "https://doi.org/10.1016/j.neuron.2015.08.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26335643"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26335643"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Zhongyi Fan, Jingjing Duan, Pu Luo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-022-04718-8"}], "href": "https://doi.org/10.1038/s41419-022-04718-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35411037"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35411037"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Soichiro Nakahara, Jessica A Turner, Vince D Calhoun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dentate gyrus volume deficit in schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Psychol Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1017/S0033291719001144"}], "href": "https://doi.org/10.1017/S0033291719001144"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31155012"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31155012"}]}]}]}
Synonyms	SIDBA2
Proteins	S2538_HUMAN
NCBI Gene ID	54977
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SLC25A38 has 5,499 functional associations with biological entities spanning 8 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) extracted from 106 datasets.

Click the + buttons to view associations for SLC25A38 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SLC25A38 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC25A38 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 SLC25A38 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 SLC25A38 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 RNA-seq	tissue samples with high or low expression of SLC25A38 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 SLC25A38 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 SLC25A38 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 SLC25A38 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 SLC25A38 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 SLC25A38 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC25A38 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 SLC25A38 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SLC25A38 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 SLC25A38 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SLC25A38 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 SLC25A38 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 SLC25A38 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SLC25A38 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of SLC25A38 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SLC25A38 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SLC25A38 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SLC25A38 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SLC25A38 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 SLC25A38 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 SLC25A38 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SLC25A38 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with SLC25A38 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SLC25A38 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SLC25A38 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SLC25A38 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 SLC25A38 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 SLC25A38 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 SLC25A38 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SLC25A38 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SLC25A38 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC25A38 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SLC25A38 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SLC25A38 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SLC25A38 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SLC25A38 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SLC25A38 from the GeneSigDB Published Gene Signatures dataset.