DEPDC5 Gene

Name	DEP domain containing 5
Description	This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DEPDC5 (DEP domain‐containing protein 5) is emerging as a critical neuronal regulator that functions as part of the GATOR1 complex to negatively control mTOR complex 1 (mTORC1) signaling by modulating amino acid sensing. In the brain, DEPDC5 acts to restrain mTORC1 activity, thereby regulating neuronal growth, dendrite and spine morphology, and overall excitability. Loss‐of‐function mutations in DEPDC5 have been identified in various familial focal epilepsies—including familial focal epilepsy with variable foci and epilepsies associated with focal cortical dysplasia—as well as in some sporadic cases. In these settings, both germline and, in some instances, brain‐limited somatic mutations underlie a “two‐hit” mechanism that leads to mTORC1 hyperactivation, disrupted cortical development, and increased seizure susceptibility. These studies collectively suggest that DEPDC5 plays a pivotal role in neuronal signal transduction and cortical maturation, and that modulation of its pathway by mTORC1 inhibitors may hold therapeutic promise for DEPDC5‐related epilepsies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Moreover, additional studies have expanded the phenotypic spectrum to include nonlesional epilepsies, sometimes with low penetrance of DEPDC5 variants, further emphasizing its central role in regulating cortical excitability and epileptogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Leanne M Dibbens, Boukje de Vries, Simona Donatello, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in DEPDC5 cause familial focal epilepsy with variable foci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2599"}], "href": "https://doi.org/10.1038/ng.2599"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23542697"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23542697"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Stéphanie Baulac, Saeko Ishida, Elise Marsan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24368"}], "href": "https://doi.org/10.1002/ana.24368"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25623524"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25623524"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ingrid E Scheffer, Sarah E Heron, Brigid M Regan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24126"}], "href": "https://doi.org/10.1002/ana.24126"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24585383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24585383"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI99384"}], "href": "https://doi.org/10.1172/JCI99384"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29708508"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29708508"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Dennis Lal, Eva M Reinthaler, Julian Schubert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DEPDC5 mutations in genetic focal epilepsies of childhood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24127"}], "href": "https://doi.org/10.1002/ana.24127"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24591017"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24591017"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "M-H Tsai, C-K Chan, Y-C Chang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DEPDC5 mutations in familial and sporadic focal epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12992"}], "href": "https://doi.org/10.1111/cge.12992"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28170089"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28170089"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Fabienne Picard, Periklis Makrythanasis, Vincent Navarro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000000488"}], "href": "https://doi.org/10.1212/WNL.0000000000000488"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24814846"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24814846"}]}]}]}
Synonyms	DEP.5, FFEVF, FFEVF1
Proteins	DEPD5_HUMAN
NCBI Gene ID	9681
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DEPDC5 has 5,805 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 122 datasets.

Click the + buttons to view associations for DEPDC5 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of DEPDC5 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DEPDC5 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 DEPDC5 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DEPDC5 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DEPDC5 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 DEPDC5 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 DEPDC5 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with DEPDC5 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of DEPDC5 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 DEPDC5 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DEPDC5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DEPDC5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DEPDC5 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with DEPDC5 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with DEPDC5 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 DEPDC5 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 DEPDC5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving DEPDC5 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving DEPDC5 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 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 DEPDC5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DEPDC5 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 DEPDC5 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 DEPDC5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.