SLC30A9 Gene

HGNC Family	Solute carriers (SLC)
Name	solute carrier family 30 (zinc transporter), member 9
Description	Enables zinc ion transmembrane transporter activity. Involved in intracellular zinc ion homeostasis; regulation of mitochondrion organization; and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; endoplasmic reticulum; and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC30A9, also known as ZnT-9, is a zinc transporter that plays an essential role in regulating intracellular zinc homeostasis. Low levels of hZnT‐9 expression have been observed in peripheral blood lymphocytes, while its ubiquitous expression with high levels in tissues such as the cerebellum, skeletal muscle, thymus, kidney, and liver indicates that it is a broadly important component of cellular zinc regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond general expression patterns, emerging data show that SLC30A9 localizes to specialized subcellular compartments. In particular, detailed studies have revealed its prominent presence in mitochondria, where it functions as a critical zinc exporter. Loss of SLC30A9 activity leads to the accumulation of zinc within mitochondria, resulting in a swollen mitochondrial matrix, compromised respiratory complex activities, and overall metabolic dysfunction. Additionally, in specific tissues such as the vaginal epithelium, reduced SLC30A9 (ZnT-9) expression has been associated with physiological changes during aging."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, mutations in SLC30A9 have been linked to severe systemic disease, exemplified by the Birk‐Landau‐Perez syndrome—a cerebro‐renal disorder characterized by neurological deterioration, movement abnormalities, and renal impairment—which underscores the transporter’s indispensable role in cellular and organismal zinc homeostasis. Complementary studies in model organisms, including Drosophila, mice, and Caenorhabditis elegans, reinforce the concept that evolutionary conserved zinc export via SLC30A9 is vital for proper mitochondrial function, developmental progression, and overall cellular viability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Silke Overbeck, Peter Uciechowski, M Leigh Ackland, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Leukoc Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1189/jlb.0307148"}], "href": "https://doi.org/10.1189/jlb.0307148"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17971500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17971500"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awx013"}], "href": "https://doi.org/10.1093/brain/awx013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28334855"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28334855"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Laura Gartmann, Thomas Wex, Kurt Grüngreiff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of zinc transporters ZIP4, ZIP14 and ZnT9 in hepatic carcinogenesis-An immunohistochemical study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Trace Elem Med Biol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jtemb.2018.04.034"}], "href": "https://doi.org/10.1016/j.jtemb.2018.04.034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29895370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29895370"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Anett Csikós, Bence Kozma, Ágnes Pór, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Zinc Transporter 9 (SLC30A9) Expression Is Decreased in the Vaginal Tissues of Menopausal Women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Trace Elem Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12011-020-02525-w"}], "href": "https://doi.org/10.1007/s12011-020-02525-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33409913"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33409913"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Huichao Deng, Xinhua Qiao, Ting Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC-30A9 is required for Zn"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "2+"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " homeostasis, Zn"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "2+"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " mobilization, and mitochondrial health."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2023909118"}], "href": "https://doi.org/10.1073/pnas.2023909118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34433664"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34433664"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Dora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC30A9"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Pathogenic Variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000207241"}], "href": "https://doi.org/10.1212/WNL.0000000000207241"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37041080"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37041080"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jing Ge, Huihui Li, Xin Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Life Sci (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00018-024-05377-y"}], "href": "https://doi.org/10.1007/s00018-024-05377-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39158587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39158587"}]}]}]}
Synonyms	HUEL, C4ORF1, BILAPES, GAC63, ZNT9
Proteins	ZNT9_HUMAN
NCBI Gene ID	10463
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SLC30A9 has 6,734 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 122 datasets.

Click the + buttons to view associations for SLC30A9 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC30A9 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 SLC30A9 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SLC30A9 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC30A9 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SLC30A9 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 SLC30A9 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SLC30A9 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of SLC30A9 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 SLC30A9 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SLC30A9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SLC30A9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SLC30A9 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 SLC30A9 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SLC30A9 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SLC30A9 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SLC30A9 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SLC30A9 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 SLC30A9 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for SLC30A9 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SLC30A9 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 SLC30A9 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 SLC30A9 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 SLC30A9 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SLC30A9 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 SLC30A9 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 SLC30A9 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SLC30A9 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 SLC30A9 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with SLC30A9 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.