TUBGCP4 Gene

Name	tubulin, gamma complex associated protein 4
Description	This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTUBGCP4 encodes a γ‐tubulin complex protein that is an essential component of the γ‐tubulin ring complex (γ‐TuRC), which drives the nucleation and organization of microtubules. Human studies have shown that compound‐heterozygous mutations in TUBGCP4 are responsible for an autosomal‐recessive syndrome characterized by microcephaly and chorioretinopathy. Functional analyses in patient‐derived cells and zebrafish models revealed that these mutations lead to reduced levels of the γ‐TuRC, impaired microtubule nucleation, abnormal nuclear architecture, and aneuploidy. In addition, deep phenotyping—including overlap studies with related genes—has reinforced the association of TUBGCP4 dysfunction with ocular developmental anomalies and brain malformations. Moreover, murine knockout models have established that complete loss of Tubgcp4 causes early embryonic lethality, while haploinsufficiency perturbs the assembly of the complex and disrupts cellular homeostasis, leading to retinal degeneration through misregulation of autophagy."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, TUBGCP4 not only supports microtubule formation but also influences autophagy regulation within the retina. In mouse models, reduced TUBGCP4 dosage impairs the formation of γ‐TuRCs and disturbs the homeostasis of autophagic processes by competing with ATG3 for binding to ATG7, thereby interfering with LC3B lipidation; these perturbations culminate in photoreceptor degeneration and reduced retinal function. Beyond its developmental roles, analyses in hepatocellular carcinoma have indicated that although TUBGCP4 mRNA may be upregulated in tumor tissue, the corresponding protein is downregulated compared to adjacent nontumor tissues, with positive protein expression correlating with lower carbohydrate antigen levels and improved patient survival—highlighting its potential as an independent prognostic marker. In a related vein, investigations into exosome‐mediated angiogenesis underscore the broader relevance of protein complexes in tumor biology, although the direct connection between TUBGCP4 and exosome-driven tip cell formation remains to be fully elucidated."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sophie Scheidecker, Christelle Etard, Laurence Haren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2015.02.011"}], "href": "https://doi.org/10.1016/j.ajhg.2015.02.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25817018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25817018"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xu Xu, Dantong Shang, Hanhua Cheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene essentiality of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "Tubgcp4"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ": dosage effect and autophagy regulation in retinal photoreceptors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Autophagy (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15548627.2019.1647023"}], "href": "https://doi.org/10.1080/15548627.2019.1647023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31345090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31345090"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Maria F Shurygina, Joseph M Simonett, Maria A Parker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.61.13.2"}], "href": "https://doi.org/10.1167/iovs.61.13.2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33137195"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33137195"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Claudia Yahalom, Russell L Woods, James D Akula, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/13816810.2023.2170424"}], "href": "https://doi.org/10.1080/13816810.2023.2170424"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37038737"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37038737"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chuanjun Zheng, Jiaxi Zhang, Fusheng Jiang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical Significance of TUBGCP4 Expression in Hepatocellular Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Anal Cell Pathol (Amst) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2022/9307468"}], "href": "https://doi.org/10.1155/2022/9307468"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36530949"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36530949"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Chen Chen, Yang Liu, Lin Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exosomal circTUBGCP4 promotes vascular endothelial cell tipping and colorectal cancer metastasis by activating Akt signaling pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-023-02619-y"}], "href": "https://doi.org/10.1186/s13046-023-02619-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36793126"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36793126"}]}]}]}
Synonyms	GRIP76, MCCRP3, 76P, GCP4, GCP-4
Proteins	GCP4_HUMAN
NCBI Gene ID	27229
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TUBGCP4 has 6,401 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 115 datasets.

Click the + buttons to view associations for TUBGCP4 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TUBGCP4 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 TUBGCP4 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with TUBGCP4 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TUBGCP4 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 TUBGCP4 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TUBGCP4 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 TUBGCP4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with TUBGCP4 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 TUBGCP4 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TUBGCP4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TUBGCP4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 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 TUBGCP4 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with TUBGCP4 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of TUBGCP4 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving TUBGCP4 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with TUBGCP4 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with TUBGCP4 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 TUBGCP4 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 TUBGCP4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TUBGCP4 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 TUBGCP4 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 TUBGCP4 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TUBGCP4 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 TUBGCP4 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with TUBGCP4 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of TUBGCP4 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.