Ask about this productRelated genes to: CC2D1B antibody
- Gene:
- CC2D1B NIH gene
- Name:
- coiled-coil and C2 domain containing 1B
- Previous symbol:
- -
- Synonyms:
- KIAA1836, Freud-2
- Chromosome:
- 1p32.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-07-05
- Date modifiied:
- 2019-04-09
Related products to: CC2D1B antibody
Related articles to: CC2D1B antibody
- Loss of the protein scaffold Coiled-coil and C2 domain containing 1A (CC2D1A) leads to intellectual disability, autism spectrum disorder, and other neurodevelopmental presentations in humans. CC2D1A interactions have been studied in different cell lines proposing diverse roles in endolysosomal maturation and intracellular signaling, but the composition and function of the CC2D1A interactome remain poorly understood, especially in the brain. We performed comprehensive proteomic analyses to characterize CC2D1A binding partners, first comparing immunoprecipitations with three different anti-CC2D1A antibodies in HEK293 cells and then probing the mouse hippocampus. In HEK cells, gene ontology analysis revealed broad interaction networks in the nucleus, mitochondrion, and cytosol with a variety of functions unified by the best characterized CC2D1A interactor, the Endosomal sorting complex required for transport III (ESCRT-III) component Charged multivesicular body protein 4B (CHMP4B), and reflecting the pleiotropic role of CC2D1A in membrane trafficking and protein signaling. In the hippocampus, using stringent criteria, we identified 41 high-confidence interactors in addition to CHMP4B revealing roles for protein translation, cytoskeletal organization, and synaptic function. The HEK studies had also pointed to Coiled-coil and C2 domain containing 1B (CC2D1B), the only paralog of CC2D1A, as an interactor. We confirmed that not only the two proteins can bind in the brain, but also localize in different synaptic compartments, showing that CC2D1A is uniquely enriched in the post-synapse. This supports a unique function of CC2D1A in regulation of synaptic transmission that could explain the more severe cognitive deficits in humans and mice upon its loss. To our knowledge these findings provide the most comprehensive characterization of the CC2D1A interactome to date, elucidating novel, multifaceted, and dynamic cellular functions, providing potential implications for its role in neurodevelopmental disorders. - Source: PubMed
Publication date: 2026/02/28
Heller Abigail TBhattacharya AniketLi HaorongTurkalj LukaThiyagarajan ShruthiSuzuki EmmaMossa AdeleZheng HaiyanHao LingManzini M Chiara - Over 1100 independent signals have been identified with genome-wide association studies (GWAS) for bone mineral density (BMD), a key risk factor for mortality-increasing fragility fractures; however, the effector gene(s) for most remain unknown. - Source: PubMed
Publication date: 2025/10/03
Conery MitchellPippin James AWagley YadavTrang KhanhPahl Matthew CVillani David AFavazzo Lacey JAckert-Bicknell Cheryl LZuscik Michael JKatsevich EugeneWells Andrew DZemel Babette SVoight Benjamin FHankenson Kurt DChesi AlessandraGrant Struan F A - Loss of the protein scaffold Coiled-coil and C2 domain containing 1A (CC2D1A) leads to intellectual disability (ID), autism spectrum disorder (ASD), and other neurodevelopmental presentations in humans. CC2D1A interactions have been studied in different cell lines proposing diverse roles in endolysosomal maturation and intracellular signaling, but the composition and functional mechanisms of the CC2D1A interactome remain poorly understood, especially in the brain. We performed comprehensive proteomic analyses to characterize CC2D1A binding partners, first comparing immunoprecipitations with three different anti-CC2D1A antibodies in HEK293 cells and then probing the mouse hippocampus. In HEK cells, Gene Ontology (GO) analysis revealed broad interaction networks in the nucleus, mitochondrion, and cytoplasmic vesicles sharing functions in organelle organization, vesicle mediated transport, and protein metabolism. These are unified by the best characterized CC2D1A interactor, the ESCRT III component CHMP4B, and define a pleiotropic role for CC2D1A in membrane trafficking and protein homeostasis. In the hippocampus, using stringent criteria and additional controls, including a hypomorph mouse line, we identified 10 high-confidence interactors in addition to CHMP4B (TNIK, G3BP2, CEP135, MAPKAP1, SHFL, PPT1, PNKD, VAMP5, and PPP6R2) revealing roles for RNA regulation and synaptic function. The HEK studies had also pointed to CC2D1B, the only paralog of CC2D1A, as an interactor. We confirmed that not only the two proteins can bind in the brain, but also localize in different synaptic compartments, showing that CC2D1A is uniquely enriched in the post-synapse. This supports a unique function of CC2D1A in regulation of synaptic transmission that could explain the more severe cognitive deficits in humans and mice upon its loss. To our knowledge these findings provide the most comprehensive characterization of the CC2D1A interactome to date, elucidating novel, multifaceted, and dynamic cellular functions, providing potential implications for its role in neurodevelopmental disorders. - Source: PubMed
Publication date: 2025/06/28
Heller Abigail TBhattacharya AniketLi HaorongTurkalj LukaThiyagarajan ShruthiSuzuki EmmaMossa AdeleZheng HaiyanHao LingManzini M Chiara - The Jinwu pig is a novel breed created by crossbreeding Jinhua and Duroc pigs, displaying superior meat quality, strong adaptability to coarse feed, high production performance, and a rapid growth rate. However, research on its reproductive traits and genomic characteristics has not been systematically reported. - Source: PubMed
Publication date: 2025/04/30
Chen WenduoZhao AyongPan JianzhiTan KaiZhu ZhiweiZhang LiangYu FuxianLiu RenhuZhong LiepengHuang Jing - Male infertility manifests in the form of a reduction in sperm count, sperm motility, or the loss of fertilizing ability. While the loss of sperm production can have mixed reasons, sperm structural defects, cumulatively known as teratozoospermia, have predominantly genetic bases. The aim of the present review is to undertake a comprehensive analysis of the genetic mutations leading to sperm morphological deformities/teratozoospermia. - Source: PubMed
Publication date: 2024/10/17
Arora ManviMehta PoonamSethi ShrutiAnifandis GeorgeSamara MarySingh Rajender