ABCB6 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
Description	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ABCB6 is an ATP‐binding cassette transporter that has been implicated in several, context‐dependent roles. Early studies demonstrated that ABCB6 is transcriptionally upregulated in response to increased intracellular porphyrin levels, where it facilitates energy‐dependent porphyrin import into mitochondria—specifically into the outer mitochondrial membrane—to promote de novo heme biosynthesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Complementary work has revealed that ABCB6 exists as distinct molecular weight forms, with one form predominantly localized to mitochondria and another to the plasma membrane, the latter of which helps prevent excessive accumulation of specific porphyrins in the cell."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In contrast, other reports challenge the concept of mitochondrial ABCB6 by showing its presence in endosomal/lysosomal compartments and the Golgi apparatus, suggesting that ABCB6 is not essential for de novo heme synthesis in certain cell types."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Genetic analyses have further expanded its physiological relevance; ABCB6 has been identified as the molecular basis of the Lan blood group system, with null mutations giving rise to a blood type that is generally asymptomatic but may affect drug handling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Missense variants in ABCB6 have also been associated with familial pseudohyperkalemia, a condition characterized by increased red blood cell cation leak"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", and with pigmentary disorders such as dyschromatosis universalis hereditaria, where disease‐causing mutations disrupt proper protein trafficking to cause abnormal skin pigmentation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In addition, mutations in ABCB6 have been identified in patients with ocular abnormalities, contributing to developmental coloboma phenotypes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, ABCB6 is a multifunctional transporter whose roles span from regulating porphyrin import and heme biosynthesis to influencing red blood cell physiology and pigmentation. Although its precise subcellular localization may vary between different cell types and experimental conditions, the collective findings indicate that ABCB6 is a key player in maintaining porphyrin homeostasis and in contributing to diverse clinical phenotypes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Partha C Krishnamurthy, Guoqing Du, Yu Fukuda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a mammalian mitochondrial porphyrin transporter."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature05125"}], "href": "https://doi.org/10.1038/nature05125"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17006453"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17006453"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jill K Paterson, Suneet Shukla, Chelsea M Black, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi700015m"}], "href": "https://doi.org/10.1021/bi700015m"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17661442"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17661442"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Katalin Kiss, Anna Brozik, Nora Kucsma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0037378"}], "href": "https://doi.org/10.1371/journal.pone.0037378"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22655043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22655043"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Masashi Tsuchida, Yoshikazu Emi, Yuichiro Kida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2008.02.027"}], "href": "https://doi.org/10.1016/j.bbrc.2008.02.027"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18279659"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18279659"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Virginie Helias, Carole Saison, Bryan A Ballif, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.1069"}], "href": "https://doi.org/10.1038/ng.1069"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22246506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22246506"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Immacolata Andolfo, Seth L Alper, Jean Delaunay, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hematol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajh.23357"}], "href": "https://doi.org/10.1002/ajh.23357"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23180570"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23180570"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Caie Zhang, Duanzhuo Li, Jianguo Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in ABCB6 cause dyschromatosis universalis hereditaria."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2013.145"}], "href": "https://doi.org/10.1038/jid.2013.145"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23519333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23519333"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ivan Prokudin, Cas Simons, John R Grigg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2013.268"}], "href": "https://doi.org/10.1038/ejhg.2013.268"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24281366"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24281366"}]}]}]}
Synonyms	UMAT, ABC14, ABC, MTABC3, MCOPCB7, DUH3
Proteins	ABCB6_HUMAN
NCBI Gene ID	10058
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCB6 has 8,328 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 118 datasets.

Click the + buttons to view associations for ABCB6 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 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 ABCB6 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCB6 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 ABCB6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ABCB6 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 ABCB6 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCB6 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 ABCB6 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 ABCB6 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ABCB6 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCB6 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCB6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCB6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ABCB6 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ABCB6 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 ABCB6 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 ABCB6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ABCB6 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ABCB6 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ABCB6 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 ABCB6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ABCB6 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCB6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ABCB6 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 ABCB6 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 ABCB6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCB6 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 ABCB6 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 ABCB6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ABCB6 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 ABCB6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ABCB6 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with ABCB6 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.