| Name | family with sequence similarity 246 member A |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCentrosomal proteins play pivotal roles in orchestrating cell division, with studies on Sas4 and CENPJ/CPAP demonstrating that proper centriole biogenesis is essential for timely mitosis and survival. Loss‐of-function mutations in these genes lead to defective spindle assembly, prolonged prometaphase and a p53‐dependent apoptotic response, as well as genomic instability that underlies conditions such as microcephaly and primordial dwarfism. Although FAM246A is not directly mentioned in these reports, its evolutionary conservation and membership in protein families governing centrosome function suggest that it may similarly contribute to the regulation of centriole duplication and cell cycle progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the developing cerebral cortex, centrosome‐associated factors are required not only for accurate progenitor cell division but also for neuronal migration. Transcriptional control by proneural factors such as Ascl1 has been shown to regulate Cenpj expression, thereby modulating spindle orientation, microtubule stability and primary cilium dynamics. These processes are key for proper neurogenesis, as abnormal cilium disassembly and microtubule stabilization are linked to defects in neuronal positioning and axon extension."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional insights from studies examining interactions with proteins such as WDR62 and the influence of external factors like alcohol further underscore the complexity of the centrosome–cilium nexus. Disruptions in these networks compromise spindle orientation, cell division fidelity and axonal growth; indeed, improper recruitment of centrosomal components and resultant structural alterations in the spindle and growth cones have been implicated in cortical malformation and callosal axon regeneration defects. By analogy, FAM246A may operate within this regulatory framework, contributing to centrosomal integrity, cytoskeletal dynamics and, ultimately, normal neurodevelopment."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hisham Bazzi, Kathryn V Anderson "}, {"type": "b", "children": [{"type": "t", "text": "Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1400568111"}], "href": "https://doi.org/10.1073/pnas.1400568111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24706806"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24706806"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Rebecca E McIntyre, Pavithra Lakshminarasimhan Chavali, Ozama Ismail, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1003022"}], "href": "https://doi.org/10.1371/journal.pgen.1003022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23166506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23166506"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Patricia P Garcez, Javier Diaz-Alonso, Ivan Crespo-Enriquez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cenpj/CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms7474"}], "href": "https://doi.org/10.1038/ncomms7474"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25753651"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25753651"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Wenyu Ding, Qian Wu, Le Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.1849-18.2018"}], "href": "https://doi.org/10.1523/JNEUROSCI.1849-18.2018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30626697"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30626697"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Belal Shohayeb, Uda Ho, Yvonne Y Yeap, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddz281"}], "href": "https://doi.org/10.1093/hmg/ddz281"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31816041"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31816041"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yi-Nan Lin, Ying-Shan Lee, Shu-Kuei Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.243592"}], "href": "https://doi.org/10.1242/jcs.243592"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32501282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32501282"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tao Xu, Shan-Yu Zhang, Xiao-Mei Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alcohol inhibits the proliferation of Neuro2a cells via promoting the asymmetric cell division through down-regulation of the expression of centrosome protein-J."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Toxicol Lett (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.toxlet.2018.05.021"}], "href": "https://doi.org/10.1016/j.toxlet.2018.05.021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29778912"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29778912"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Pamela Meneses Iack, Danielle Rayêe, Roberto Lent, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microcephaly gene Cenpj regulates axonal growth in cortical neurons through microtubule destabilization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurochem (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jnc.15568"}], "href": "https://doi.org/10.1111/jnc.15568"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34940974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34940974"}]}]}]}
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| NCBI Gene ID | 117134598 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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FAM246A has 291 functional associations with biological entities spanning 2 categories (chemical, gene, protein or microRNA) extracted from 4 datasets.
Click the + buttons to view associations for FAM246A from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of FAM246A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of FAM246A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of FAM246A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of FAM246A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |