Gene: DEPDC5

Alternate names for this Gene: DEP.5|FFEVF|FFEVF1

Gene Summary: 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.2-q12.3

Description of this Gene: DEP domain containing 5, GATOR1 subcomplex subunit

Type of Gene: protein-coding

rs147481775 in DEPDC5 gene and Alanine aminotransferase measurement PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs136872 in DEPDC5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs78212183 in DEPDC5 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs78212183 in DEPDC5 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs136867 in DEPDC5 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30130595 2018 Pilot genome-wide association study identifying novel risk loci for type 2 diabetes in a Maya population.

rs1261611694 in DEPDC5 gene and EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 PMID 23542701 2013 Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

PMID 24283814 2014 A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PMID 24591017 2014 DEPDC5 mutations in genetic focal epilepsies of childhood.

PMID 25366275 2015 Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

PMID 27173016 2016 Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

PMID 26704558 2016 Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 25623524 2015 Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

PMID 24814846 2014 DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

PMID 24585383 2014 Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 27066554 2015 Epileptic spasms are a feature of DEPDC5 mTORopathy.

PMID 27066565 2015 Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.

PMID 26216793 2015 DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.

PMID 27066544 2015 Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1060501488 in DEPDC5 gene and Epilepsy, Partial, with Variable Foci PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

PMID 23542701 2013 Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 24814846 2014 DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

PMID 24585383 2014 Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

PMID 28199897 2017 Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

PMID 26704558 2016 Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

PMID 27066554 2015 Epileptic spasms are a feature of DEPDC5 mTORopathy.

rs1383795440 in DEPDC5 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs1012068 in DEPDC5 gene and Hepatitis C, Chronic PMID 21725309 2011 Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.

rs5994434 in DEPDC5 gene and Intelligence PMID 22449649 2012 Genome-wide association study of intelligence: additive effects of novel brain expressed genes.

rs1012068 in DEPDC5 gene and Liver carcinoma PMID 23242368 2013 Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

rs147481775 in DEPDC5 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs587776973 in DEPDC5 gene and Seizures PMID 23869883 2013 Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

PMID 27066554 2015 Epileptic spasms are a feature of DEPDC5 mTORopathy.

rs147481775 in DEPDC5 gene and Serum Alanine Aminotransferase Measurement PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs112699334 in DEPDC5 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.