Ask about this productRelated genes to: DENND2C antibody
- Gene:
- DENND2C NIH gene
- Name:
- DENN domain containing 2C
- Previous symbol:
- -
- Synonyms:
- FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1
- Chromosome:
- 1p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-17
- Date modifiied:
- 2016-10-05
Related products to: DENND2C antibody
Related articles to: DENND2C antibody
- Osteoclasts are bone-resorbing multinucleated giant cells formed by the fusion of monocyte/macrophage lineages. Various small GTPases are involved in the multinucleation and differentiation of osteoclasts. However, the roles of small GTPases regulatory molecules in osteoclast differentiation remain unclear. In the present study, we examined the role of Dennd2c, a putative guanine nucleotide exchange factor for Rab GTPases, in osteoclast differentiation. Knockdown of promoted osteoclast differentiation, resorption, and expression of osteoclast markers. Morphologically, knockdown induced the formation of larger osteoclasts with several protrusions. In contrast, overexpression of inhibited the multinucleation and differentiation of osteoclasts, bone resorption, and the expression of osteoclast markers. -overexpressing macrophages exhibited spindle-shaped mononuclear cells and long thin protrusions. Treatment of -overexpressing cells with the Cdc42 inhibitor ML-141 or the Rac1 inhibitor 6-thio-GTP prevented protrusion formation. Moreover, treatment of -overexpressing cells with the actin polymerization inhibitor latrunculin B restored multinucleated and TRAP-positive osteoclast formation. These results indicate that Dennd2c negatively regulates osteoclast differentiation and multinucleation by modulating protrusion formation in macrophages. - Source: PubMed
Publication date: 2024/10/25
Koyanagi YuSakai EikoYamaguchi YuFarhana FatimaTaira YohsukeOkamoto KuniakiMurata HiroshiTsukuba Takayuki - Cholesteatoma is a rare progressive disease of the middle ear. Most cases are sporadic, but some patients report a positive family history. Identifying functionally important gene variants associated with this disease has the potential to uncover the molecular basis of cholesteatoma pathology with implications for disease prevention, surveillance, or management. We performed an observational WES study of 21 individuals treated for cholesteatoma who were recruited from ten multiply affected families. These family studies were complemented with gene-level mutational burden analysis. We also applied functional enrichment analyses to identify shared properties and pathways for candidate genes and their products. Filtered data collected from pairs and trios of participants within the ten families revealed 398 rare, loss of function (LOF) variants co-segregating with cholesteatoma in 389 genes. We identified six genes DENND2C, DNAH7, NBEAL1, NEB, PRRC2C, and SHC2, for which we found LOF variants in two or more families. The parallel gene-level analysis of mutation burden identified a significant mutation burden for the genes in the DNAH gene family, which encode products involved in ciliary structure. Functional enrichment analyses identified common pathways for the candidate genes which included GTPase regulator activity, calcium ion binding, and degradation of the extracellular matrix. The number of candidate genes identified and the locus heterogeneity that we describe within and between multiply affected families suggest that the genetic architecture for familial cholesteatoma is complex. - Source: PubMed
Publication date: 2023/03/15
Cardenas RyanPrinsley PeterPhilpott CarlBhutta Mahmood FWilson EmmaBrewer Daniel SJennings Barbara A - The mechanisms regulating human embryonic stem (ES) cell self-renewal and differentiation are not well defined in part due to the lack of tools for forward genetic analysis. We present a piggyBac transposon gain of function screen in human ES cells that identifies DENND2C, which genetically cooperates with NANOG to maintain self-renewal in the presence of retinoic acid. We show that DENND2C negatively regulates RHOA activity, which cooperates with NANOG to block differentiation. It has been recently shown that RHOA exists in the nucleus and is activated by DNA damage; however, its nuclear function remains unknown. We discovered that RHOA associates with DNA and that DENND2C affects nuclear RHOA localization, activity, and DNA association. Our study illustrates the power of piggyBac as a cost-effective, efficient, and easy to use tool for forward genetic screens in human ES cells and provides insight into the role of RHOA in the nucleus. - Source: PubMed
Publication date: 2015/04/09
Gayle SophiaPan YukunLandrette SeanXu Tian - The precise etiology of rotator cuff disease is unknown, but prior evidence suggests a role for genetic factors. Variants of estrogen-related receptor-β (ESRRB) have been previously associated with rotator cuff disease. The purpose of the present study was to confirm the association between multiple candidate genes, including ESRRB, and rotator cuff disease in an independent set of patients with rotator cuff tear. - Source: PubMed
Publication date: 2014/09/11
Teerlink Craig CCannon-Albright Lisa ATashjian Robert Z - Rotator cuff disease (RCD) is a complex process influenced by a multitude of factors, and a number of gene pathways are altered in rotator cuff tears. Polymorphisms in these genes can lead to an extended tendon degeneration process, which explains why subsets of patients are more susceptible to RCD. - Source: PubMed
Publication date: 2013/10/12
Motta Geraldo da RochaAmaral Marcus ViníciusRezende EduardoPitta RafaelVieira Thays Cristine dos SantosDuarte Maria Eugenia LeiteVieira Alexandre RezendeCasado Priscila Ladeira