DNMBP Gene

HGNC Family	Rho guanine nucleotide exchange factors (ARHGEF)
Name	dynamin binding protein
Description	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Summary	{"type": "root", "children": [{"type": "t", "text": "<head>\n <meta charset=\"UTF-8\">\n <title>DNMBP Functional Summary</title>\n </head>\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n DNMBP, also known as Tuba, is a dynamin‐binding scaffold protein that plays a central role in regulating actin cytoskeletal dynamics by modulating localized Cdc42 activity. In epithelial cells, DNMBP is recruited to tricellular contacts where it interacts with tricellulin to promote proper F‐actin organization and maintain cell–cell junction geometry, thereby contributing to epithelial barrier integrity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, DNMBP functions in renal ciliogenesis by partnering with Cdc42: its deficiency disrupts apical polarization and compromises primary cilia formation, a process essential for normal nephrogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Genetic studies indicate that loss‐of‐function mutations in DNMBP are causative of infantile cataracts, underscoring its critical role in ocular development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, multiple independent association studies have linked DNMBP polymorphisms and reduced DNMBP mRNA expression to an increased risk for late‐onset Alzheimer’s disease, particularly in individuals lacking the APOE ε4 allele."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": " Recent findings further suggest that higher DNMBP expression correlates with favorable therapeutic responses in rectal cancer patients, implying that its regulatory influence on cytoskeletal and junctional pathways may extend to modulating treatment sensitivity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these data highlight DNMBP as an essential mediator of cytoskeletal remodeling and cell adhesion. Its ability to integrate signals from dynamin, Cdc42, and actin regulatory partners is critical for maintaining tissue architecture, while its dysregulation appears to contribute to diverse pathological conditions ranging from neurodegeneration and cataract formation to aberrant epithelial morphogenesis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yukako Oda, Tetsuhisa Otani, Junichi Ikenouchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tricellulin regulates junctional tension of epithelial cells at tricellular contacts through Cdc42."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.150607"}], "href": "https://doi.org/10.1242/jcs.150607"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25097232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25097232"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jeong-In Baek, Sang-Ho Kwon, Xiaofeng Zuo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamin Binding Protein (Tuba) Deficiency Inhibits Ciliogenesis and Nephrogenesis in Vitro and in Vivo."}]}, {"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.M115.688663"}], "href": "https://doi.org/10.1074/jbc.M115.688663"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26895965"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26895965"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Muhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.09.004"}], "href": "https://doi.org/10.1016/j.ajhg.2018.09.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30290152"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30290152"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ryozo Kuwano, Akinori Miyashita, Hiroyuki Arai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl142"}], "href": "https://doi.org/10.1093/hmg/ddl142"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16740596"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16740596"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Karolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DNMBP is genetically associated with Alzheimer dementia in the Belgian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2008.02.003"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2008.02.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18359537"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18359537"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ryozo Kuwano "}, {"type": "b", "children": [{"type": "t", "text": "[Genetic risk factor of Alzheimer's disease]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Rinsho Shinkeigaku (2007)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18210832"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18210832"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ping Yang, Miao Xu, Zhi- Jun Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic association of CUGBP2 and DNMBP with Alzheimer' s disease in the Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Alzheimer Res (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2174/156720501203150317151426"}], "href": "https://doi.org/10.2174/156720501203150317151426"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25801238"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25801238"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "W Zhang, Y J Ye, X W Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Detection of preoperative chemoradiotherapy sensitivity molecular characteristics of rectal cancer by transcriptome second generation sequencing]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Beijing Da Xue Xue Bao Yi Xue Ban (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.19723/j.issn.1671-167X.2019.03.025"}], "href": "https://doi.org/10.19723/j.issn.1671-167X.2019.03.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31209429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31209429"}]}]}]}
Synonyms	ARHGEF36, TUBA
Proteins	DNMBP_HUMAN
NCBI Gene ID	23268
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DNMBP has 7,364 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 119 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP 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 DNMBP gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with DNMBP protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with DNMBP 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 DNMBP gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DNMBP 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 DNMBP 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 DNMBP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing DNMBP 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 DNMBP gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DNMBP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DNMBP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with DNMBP 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 DNMBP 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 DNMBP gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with DNMBP gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with DNMBP gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of DNMBP 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 DNMBP gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving DNMBP gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with DNMBP 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 DNMBP 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 DNMBP 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 DNMBP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DNMBP 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 DNMBP gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of DNMBP 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 DNMBP from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with DNMBP gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of DNMBP gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with DNMBP gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.