STIL Gene

Name	SCL/TAL1 interrupting locus
Description	This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSTIL is a central regulator of centriole duplication and centrosome biogenesis, playing a crucial role in ensuring accurate cell‐cycle progression and neurodevelopment. It is dynamically recruited to the nascent procentriole, where it forms complexes with key centrosomal proteins such as CPAP/CENPJ and SAS‐6, and cooperates with PLK4 to initiate and control the formation of a single daughter centriole per parental centriole. Tight regulation of STIL—including oscillatory expression, phosphorylation‐dependent interactions, and ubiquitin–proteasome–mediated degradation—is essential for maintaining centrosome number, and its dysfunction is linked to primary microcephaly and other neurodevelopmental defects."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in centriole assembly, STIL contributes to the fidelity of mitotic spindle formation, ciliogenesis, and cell–cycle regulation—processes whose misregulation predisposes to oncogenesis. Aberrant expression or mutation of STIL can lead to centrosome amplification and genomic instability, thereby promoting a range of malignancies including T‐cell acute lymphoblastic leukemia, gastric, ovarian, and nasopharyngeal cancers. In addition, STIL modulates key signaling cascades such as Hedgehog and IGF‐1/PI3K/AKT pathways and interacts with proteins that regulate cell migration (for example, by partnering with ARHGEF7 and PAK1), further highlighting its multifaceted role in tumor progression and metastasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "17", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies expand the functional landscape of STIL by implicating it in the regulation of cellular differentiation, neural progenitor proliferation, and stem cell pluripotency. Alterations in STIL oligomerization or structural integrity (mediated by its coiled–coil domains) can disrupt its centrosomal targeting and activity, contributing not only to developmental disorders such as holoprosencephaly but also to leukemogenic events via chromosomal rearrangements. Furthermore, emerging evidence indicates that post–transcriptional modifications (such as m6A) and interactions with deubiquitylating enzymes integrate STIL into broader cell–signaling networks that control both normal development and carcinogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "29", "end_ref": "37"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Arun Kumar, Satish C Girimaji, Mahesh R Duvvari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.01.017"}], "href": "https://doi.org/10.1016/j.ajhg.2009.01.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19215732"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19215732"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Chieh-Ju C Tang, Shin-Yi Lin, Wen-Bin Hsu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/emboj.2011.378"}], "href": "https://doi.org/10.1038/emboj.2011.378"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22020124"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22020124"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Christian Arquint, Katharina F Sonnen, York-Dieter Stierhof, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.01071"}], "href": "https://doi.org/10.7554/eLife.01071"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24052813"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24052813"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Midori Ohta, Tomoko Ashikawa, Yuka Nozaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Direct interaction of Plk4 with STIL ensures formation of a single procentriole per parental centriole."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms6267"}], "href": "https://doi.org/10.1038/ncomms6267"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25342035"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25342035"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Christian Arquint, Anna-Maria Gabryjonczyk, Stefan Imseng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "STIL binding to Polo-box 3 of PLK4 regulates centriole duplication."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.07888"}], "href": "https://doi.org/10.7554/eLife.07888"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26188084"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26188084"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Christian Arquint, Erich A Nigg "}, {"type": "b", "children": [{"type": "t", "text": "The PLK4-STIL-SAS-6 module at the core of centriole duplication."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Soc Trans (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BST20160116"}], "href": "https://doi.org/10.1042/BST20160116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27911707"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27911707"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sihem Zitouni, Maria E Francia, Filipe Leal, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0117418"}], "href": "https://doi.org/10.1371/journal.pone.0117418"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25658757"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25658757"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Christian Arquint, Fabien Cubizolles, Agathe Morand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The SKP1-Cullin-F-box E3 ligase βTrCP and CDK2 cooperate to control STIL abundance and centriole number."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Open Biol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1098/rsob.170253"}], "href": "https://doi.org/10.1098/rsob.170253"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29445034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29445034"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Midori Ohta, Koki Watanabe, Tomoko Ashikawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bimodal Binding of STIL to Plk4 Controls Proper Centriole Copy Number."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2018.05.030"}], "href": "https://doi.org/10.1016/j.celrep.2018.05.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29898389"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29898389"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Yi Liu, Gagan D Gupta, Deepak D Barnabas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-018-04122-x"}], "href": "https://doi.org/10.1038/s41467-018-04122-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29712910"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29712910"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Tereza Renzova, Dasa Bohaciakova, Milan Esner, et al. 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Synonyms	MCPH7
Proteins	STIL_HUMAN
NCBI Gene ID	6491
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

STIL has 7,704 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 113 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

STIL Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by STIL gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of STIL 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 STIL 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 STIL 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 STIL 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 STIL 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 STIL 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 STIL 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 STIL 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 STIL gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of STIL 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 STIL gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with STIL gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with STIL 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 STIL gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of STIL 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 STIL 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 STIL gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with STIL gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of STIL gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing STIL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing STIL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with STIL 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 STIL protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with STIL gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with STIL gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with STIL gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of STIL protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving STIL gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving STIL gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with STIL 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 STIL 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 STIL 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 STIL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with STIL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at STIL gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of STIL gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of STIL gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing STIL from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with STIL gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.