CEP57 Gene

Name	centrosomal protein 57kDa
Description	This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent studies have revealed that the centrosomal protein CEP57 is a multifunctional regulator of mitotic fidelity. Its C‐terminal region directly binds to microtubules to nucleate and bundle them, thereby supporting robust spindle architecture."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, CEP57 forms critical molecular links with other centrosomal components: it interacts with CEP63 and, indirectly, with CEP152 to help recruit essential duplication factors and to maintain the proper engagement of centrioles."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": " Moreover, CEP57 facilitates the attachment of spindle microtubules to both kinetochores and centrosomes, ensuring accurate chromosome segregation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n CEP57 also plays a role in intracellular signaling pathways. It functions in the nuclear import and trafficking of fibroblast growth factor 2 (FGF2), acting as a binding partner (sometimes termed Translokin) to mediate FGF2’s translocation, a process that is distinct from the nuclear import of related growth factors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In the context of altered growth factor signaling, CEP57 has been implicated in stimulating centriole overduplication and promoting mitotic errors, which may contribute to oncogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, biallelic loss‐of‐function mutations in CEP57 have been identified as the cause of mosaic variegated aneuploidy (MVA) syndrome, a rare disorder characterized by constitutional aneuploidies. Notably, patients with CEP57 mutations show a distinct clinical presentation with minimal spindle assembly checkpoint impairment compared with other MVA‐causing mutations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings underscore CEP57’s critical role as an interface between the centriole core and the pericentriolar material. By orchestrating microtubule organization, ensuring proper spindle–kinetochore attachment, and regulating centriole duplication, CEP57 is essential for accurate cell division and genome stability.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ko Momotani, Alexander S Khromov, Tsuyoshi Miyake, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cep57, a multidomain protein with unique microtubule and centrosomal localization domains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20071501"}], "href": "https://doi.org/10.1042/BJ20071501"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18294141"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18294141"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Qixi Wu, Runsheng He, Haining Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cep57, a NEDD1-binding pericentriolar material component, is essential for spindle pole integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Res (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cr.2012.61"}], "href": "https://doi.org/10.1038/cr.2012.61"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22508265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22508265"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Zhuang Wei, Tae-Sung Kim, Jong Il Ahn, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00535-19"}], "href": "https://doi.org/10.1128/MCB.00535-19"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32152252"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32152252"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Koki Watanabe, Daisuke Takao, Kei K Ito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Cep57-pericentrin module organizes PCM expansion and centriole engagement."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-08862-2"}], "href": "https://doi.org/10.1038/s41467-019-08862-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30804344"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30804344"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Thomas Tischer, Jing Yang, David Barford "}, {"type": "b", "children": [{"type": "t", "text": "The APC/C targets the Cep152-Cep63 complex at the centrosome to regulate mitotic spindle assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.259273"}], "href": "https://doi.org/10.1242/jcs.259273"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34878135"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34878135"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jennifer G DeLuca "}, {"type": "b", "children": [{"type": "t", "text": "Spindle microtubules: getting attached at both ends."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cub.2007.09.040"}], "href": "https://doi.org/10.1016/j.cub.2007.09.040"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18029252"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18029252"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yan Zhen, Vigdis Sørensen, Camilla S Skjerpen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nuclear import of exogenous FGF1 requires the ER-protein LRRC59 and the importins Kpnα1 and Kpnβ1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Traffic (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0854.2012.01341.x"}], "href": "https://doi.org/10.1111/j.1600-0854.2012.01341.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22321063"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22321063"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Sylvain Meunier, Marina García-Jove Navarro, Carine Bossard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Traffic (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0854.2009.00985.x"}], "href": "https://doi.org/10.1111/j.1600-0854.2009.00985.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19804566"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19804566"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Rolando Cuevas, Nina Korzeniewski, Yanis Tolstov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FGF-2 disrupts mitotic stability in prostate cancer through the intracellular trafficking protein CEP57."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-12-1857"}], "href": "https://doi.org/10.1158/0008-5472.CAN-12-1857"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23243019"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23243019"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Katie Snape, Sandra Hanks, Elise Ruark, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in CEP57 cause mosaic variegated aneuploidy syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.822"}], "href": "https://doi.org/10.1038/ng.822"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21552266"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21552266"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Shawn Yost, Bas de Wolf, Sandra Hanks, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3883"}], "href": "https://doi.org/10.1038/ng.3883"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28553959"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28553959"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Biyun Feng, Guoying Chang, Qianwen Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1951"}], "href": "https://doi.org/10.1002/mgg3.1951"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35434947"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35434947"}]}]}]}
Synonyms	TSP57, MVA2
Proteins	CEP57_HUMAN
NCBI Gene ID	9702
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CEP57 has 7,782 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 127 datasets.

Click the + buttons to view associations for CEP57 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CEP57 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CEP57 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CEP57 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CEP57 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CEP57 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CEP57 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CEP57 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CEP57 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CEP57 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CEP57 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CEP57 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CEP57 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CEP57 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CEP57 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CEP57 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CEP57 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CEP57 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CEP57 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CEP57 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CEP57 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of CEP57 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CEP57 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CEP57 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CEP57 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CEP57 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CEP57 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CEP57 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CEP57 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CEP57 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CEP57 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CEP57 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CEP57 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CEP57 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CEP57 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CEP57 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CEP57 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CEP57 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CEP57 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CEP57 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CEP57 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CEP57 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.