VPS13B Gene

Name	vacuolar protein sorting 13 homolog B (yeast)
Description	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nVPS13B (also known as COH1) was first identified in patients with Cohen syndrome, a rare autosomal recessive condition marked by developmental delay, microcephaly, characteristic facial dysmorphism, retinal dystrophy, and intermittent neutropenia. The gene spans an extensive genomic region and is organized into multiple exons that encode a large, putative transmembrane protein with a complex domain architecture. Its homology to yeast VPS13 proteins suggested an early role in vesicle‐mediated sorting and intracellular protein transport—a function that is compromised by the diverse mutations reported in affected patients."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nSubsequent studies have elucidated a more specific cellular role for VPS13B by demonstrating that the encoded protein localizes predominantly as a peripheral component of the Golgi apparatus. VPS13B interacts with regulators such as the small GTPase RAB6 and the Sec23 interacting protein (Sec23IP) to stabilize Golgi architecture and ensure efficient vesicle trafficking between the endoplasmic reticulum and Golgi compartments. Disruption of VPS13B function leads to Golgi fragmentation, altered autophagic flux, and impaired neurite outgrowth—findings that begin to explain how VPS13B mutations give rise to the neurological and developmental deficits observed in Cohen syndrome."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nEmerging evidence further indicates that VPS13B’s role extends into regulating additional aspects of cellular homeostasis. For example, genetic association studies have linked variations in VPS13B with traits as diverse as bone mineral density and midfacial morphology, suggesting that precise gene dosage and proper mRNA processing are critical not only for vesicular dynamics but also for broader aspects of tissue development and extracellular matrix secretion (e.g., procollagen trafficking). Collectively, these results underscore the pleiotropic function of VPS13B in maintaining Golgi integrity, facilitating ER-to-Golgi transport, modulating autophagy, and influencing cellular differentiation—all of which are essential for normal neurodevelopment and organogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Juha Kolehmainen, Graeme C M Black, Anne Saarinen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/375454"}], "href": "https://doi.org/10.1086/375454"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12730828"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12730828"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Delineation of Cohen syndrome following a large-scale genotype-phenotype screen."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/422197"}], "href": "https://doi.org/10.1086/422197"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15141358"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15141358"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hans Christian Hennies, Anita Rauch, Wenke Seifert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/422219"}], "href": "https://doi.org/10.1086/422219"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15154116"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15154116"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Eleni Katzaki, Chiara Pescucci, Vera Uliana, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical and molecular characterization of Italian patients affected by Cohen syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-007-0208-4"}], "href": "https://doi.org/10.1007/s10038-007-0208-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17990063"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17990063"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.32239"}], "href": "https://doi.org/10.1002/ajmg.a.32239"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18655112"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18655112"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.267971"}], "href": "https://doi.org/10.1074/jbc.M111.267971"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21865173"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21865173"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.608174"}], "href": "https://doi.org/10.1074/jbc.M114.608174"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25492866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25492866"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-017-0493-5"}], "href": "https://doi.org/10.1186/s12881-017-0493-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29149870"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29149870"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Chengqing Yang, Mei Hou, Yutang Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Dev Neurosci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijdevneu.2018.05.004"}], "href": "https://doi.org/10.1016/j.ijdevneu.2018.05.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29758347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29758347"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Mohammad Reza Karimzadeh, Fatemeh Omidi, Afsaneh Sahebalzamani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Neurosci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12031-021-01852-4"}], "href": "https://doi.org/10.1007/s12031-021-01852-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34041686"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34041686"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Malte Zorn, Jirko Kühnisch, Sebastian Bachmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-022-13717-w"}], "href": "https://doi.org/10.1038/s41598-022-13717-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35690661"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35690661"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Yuanjiao Du, Xinyu Fan, Chunyu Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.202402083"}], "href": "https://doi.org/10.1083/jcb.202402083"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39352497"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39352497"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "F-Y Deng, L-J Zhao, Y-F Pei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Osteoporos Int (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00198-009-0998-7"}], "href": "https://doi.org/10.1007/s00198-009-0998-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19680589"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19680589"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Betty Bonfante, Pierre Faux, Nicolas Navarro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.abc6160"}], "href": "https://doi.org/10.1126/sciadv.abc6160"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33547071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33547071"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Novel Variant in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "VPS13B"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Underlying Cohen Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Res Int (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2023/9993801"}], "href": "https://doi.org/10.1155/2023/9993801"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37090188"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37090188"}]}]}]}
Synonyms	COH1
Proteins	VP13B_HUMAN
NCBI Gene ID	157680
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

VPS13B has 10,097 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 131 datasets.

Click the + buttons to view associations for VPS13B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of VPS13B 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 VPS13B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with VPS13B gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with VPS13B protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with VPS13B 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 VPS13B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of VPS13B 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 VPS13B 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 VPS13B gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with VPS13B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of VPS13B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing VPS13B 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 VPS13B gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing VPS13B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing VPS13B 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 VPS13B 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 VPS13B 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 VPS13B 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 VPS13B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with VPS13B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with VPS13B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with VPS13B gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with VPS13B gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of VPS13B 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 VPS13B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving VPS13B gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving VPS13B gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with VPS13B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with VPS13B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.