TBC1D2B antibody - C-terminal region (ARP31801_P050)
- Known as:
- TBC1D2B (anti-) - C-terminal region (ARP31801_P050)
- Catalog number:
- arp31801_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- TBC1D2B antibody - C-terminal region (ARP31801_P050)
Related genes to: TBC1D2B antibody - C-terminal region (ARP31801_P050)
- Gene:
- TBC1D2B NIH gene
- Name:
- TBC1 domain family member 2B
- Previous symbol:
- -
- Synonyms:
- KIAA1055
- Chromosome:
- 15q24.3-q25.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-11-29
- Date modifiied:
- 2018-02-13
Related products to: TBC1D2B antibody - C-terminal region (ARP31801_P050)
Related articles to: TBC1D2B antibody - C-terminal region (ARP31801_P050)
- - Source: PubMed
Publication date: 2026/03/12
Oliveira Tiago SSantos Inês CAntunes Diana O - Recent reports have linked biallelic loss-of-function variants in the TBC1D2B gene to neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) (OMIM 619323), a rare condition characterized by seizures and gingival hyperplasia. However, due to the limited number of reported cases, the phenotypic diversity of this syndrome remains poorly characterized. This study reports four affected children from a consanguineous family in Türkiye, in whom a novel variant in this gene was identified. All individuals underwent clinical examination, electroencephalography (EEG), brain magnetic resonance imaging (MRI), histopathological evaluation, and genetic analyses. A novel homozygous truncating variant in the TBC1D2B gene was identified. In silico protein structure modeling was performed to investigate the potential impact of the variant. The identified c.323_324delinsAA; p.(Phe108Ter) variant causes premature protein truncation, resulting in the loss of key functional domains, such as Rab-GAP-TBC, coiled-coil, and PH (pleckstrin homology). All patients exhibited developmental delay (DD), epileptic seizures, gingival fibromatosis, and craniofacial anomalies. The growth delay seen in both of our patients, also described in an earlier case with the same gene variant, suggests that this may be a clinical feature of the syndrome. Binding pocket analysis revealed marked reductions in putative protein interaction regions, suggesting a loss-of-function effect due to the mutation. These findings reveal previously unrecognized aspects of both the genetic and clinical spectrum of NEDSGO syndrome caused by variants in the TBC1D2B gene. The resulting data underscore that disruption of structural protein regions directly contributes to the phenotype of this rare disorder. - Source: PubMed
Ozturk MuratArslan Cahide BulutAkbulut EkremHabiloglu EsraYaylı EsraUyguner Zehra Oya - Cattle breeding has traditionally focused on improving production traits; however, recent interest in positive animal welfare has shifted attention toward selecting for more robust animals that balance productivity with health and well-being. The aim of the current study was to assess whether behavioural responses during milking in dual-purpose cattle are associated with genetic markers, previously linked to temperament traits in dairy and beef breeds. We focused on 185 lactating cows belonging to the Simmental strain (Romanian Spotted, national name), which were evaluated for their milking behaviour. Genotyping was performed using an 88-SNP panel selected based on prior associations with dairy and beef cattle temperament. We identified five SNPs that were significantly associated with milking reactivity in the Romanian Spotted breed, located in genes previously linked to neural development, stress response and behavioural regulation ( and ). Our findings suggest that milking behaviour in dual-purpose Simmental cattle is influenced by genetics, supporting the potential for including behavioural traits in future selection strategies. This study contributes to a better understanding of the genetic mechanisms underlying stress-related behaviours in dual-purpose cattle breeds. - Source: PubMed
Publication date: 2025/06/15
Mincu-Iorga MadalinaMizeranschi Alexandru EugeniuGavojdian DinuNicolae IoanaKusza SzilviaIlie Daniela Elena - The authors wish to make a change to the author names (adding a new author-Teerada Daroontum) on this paper [...]. - Source: PubMed
Publication date: 2025/03/31
Kularbkaew ThatphichaThongmak TipapornSandeth PhanDaroontum TeeradaDurward Callum SVittayakittipong PichaiDuke PaulIamaroon AnakKintarak SompidIntachai WorrachetNgamphiw ChumpolTongsima SissadesJatooratthawichot PeeranatCox Timothy CKetudat Cairns James RKantaputra Piranit - Ramon syndrome (MIM 266270) is an extremely rare genetic syndrome, characterized by gingival fibromatosis, cherubism-like lesions, epilepsy, intellectual disability, hypertrichosis, short stature, juvenile rheumatoid arthritis, and ocular abnormalities. Hereditary or non-syndromic gingival fibromatosis (HGF) is also rare and considered to represent a heterogeneous group of disorders characterized by benign, slowly progressive, non-inflammatory gingival overgrowth. To date, two genes, and , have been linked to Ramon syndrome. The objective of this study was to further investigate the genetic variants associated with Ramon syndrome as well as HGF. Clinical, radiographic, histological, and immunohistochemical examinations were performed on affected individuals. Exome sequencing identified rare variants in in both conditions: a novel homozygous variant (c.1879_1880del, p.Glu627LysfsTer61) in a Thai patient with Ramon syndrome and a rare heterozygous variant (c.2471A>G, p.Tyr824Cys) in a Cambodian family with HGF. A novel variant (c.892C>T, p.Arg298Cys) in was also identified in the individuals with HGF. With support from mutant protein modeling, our data suggest that variants contribute to both Ramon syndrome and HGF, although variants in additional genes might also contribute to the pathogenesis of HGF. - Source: PubMed
Publication date: 2024/08/15
Kularbkaew ThatphichaThongmak TipapornSandeth PhanDaroontum TeeradaDurward Callum SVittayakittipong PichaiDuke PaulIamaroon AnakKintarak SompidIntachai WorrachetNgamphiw ChumpolTongsima SissadesJatooratthawichot PeeranatCox Timothy CKetudat Cairns James RKantaputra Piranit