WDR81 Gene

HGNC Family	Protein phosphatase 1 regulatory subunits (PPP1R), WD repeat domain containing (WDR)
Name	WD repeat domain 81
Description	This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nWDR81 is emerging as a multifunctional protein that plays a critical role in intracellular protein quality control and vesicular trafficking. Experimental evidence indicates that WDR81 coordinates the autophagic clearance of ubiquitinated proteins by interacting with the selective autophagy adaptor p62 and promoting recruitment of LC3C via canonical LC3-interacting regions within its BEACH domain. In addition, deficiency of WDR81 disrupts the endolysosomal system, as shown by enlarged endosomes and impaired degradation of cargo proteins such as viral tetherin and the epidermal growth factor receptor, a process that involves cooperation with the partner protein WDR91. Moreover, in glioblastoma cells, elevated WDR81 expression has been linked to reduced autophagy and increased exosome secretion by inhibiting formation of a pre‐autophagic PI3K complex, suggesting that modulation of its function could offer therapeutic benefit in malignant brain tumors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in autophagy and vesicular transport, WDR81 is essential for proper cell cycle progression and neurodevelopment. Genetic studies have implicated alterations in WDR81 in a broad spectrum of developmental brain disorders. Mutations in WDR81 have been associated with congenital hydrocephalus, microcephaly with microlissencephaly, and even fetal brain arrest, with experimental data showing that loss of WDR81 function leads to an increased mitotic index and delayed prometaphase/metaphase transitions in neural progenitors. Clinical reports further substantiate its significance by linking WDR81 deficiency to cerebellar ataxia, intellectual disability, and quadrupedal locomotion observed in CAMRQ2 syndrome. Collectively, these findings underscore that deficiencies in WDR81 disrupt both the intracellular degradation pathways and the regulation of cell division, ultimately impairing brain development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Radu Rapiteanu, Luther J Davis, James C Williamson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Traffic (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/tra.12409"}], "href": "https://doi.org/10.1111/tra.12409"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27126989"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27126989"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xuezhao Liu, Yang Li, Xin Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201608039"}], "href": "https://doi.org/10.1083/jcb.201608039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28404643"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28404643"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Amin Tadayoni Nia, Zahra Bazi, Ayyoob Khosravi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "WDR81 Gene Silencing Can Reduce Exosome Levels in Human U87-MG Glioblastoma Cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Neurosci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12031-021-01849-z"}], "href": "https://doi.org/10.1007/s12031-021-01849-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33954857"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33954857"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ozge Sarac, Suleyman Gulsuner, Yelda Yildiz-Tasci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neuro-ophthalmologic findings in humans with quadrupedal locomotion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/13816810.2012.689412"}], "href": "https://doi.org/10.3109/13816810.2012.689412"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22686558"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22686558"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ranad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genetic landscape of familial congenital hydrocephalus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24964"}], "href": "https://doi.org/10.1002/ana.24964"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28556411"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28556411"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mara Cavallin, Maria A Rujano, Nathalie Bednarek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awx218"}], "href": "https://doi.org/10.1093/brain/awx218"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28969387"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28969387"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Mohamed S Abdel-Hamid, Sahar Sabry, Sherif F Abdel-Ghafar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-021-00665-2"}], "href": "https://doi.org/10.1007/s10048-021-00665-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34338917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34338917"}]}]}]}
Synonyms	PPP1R166, SORF-2, CAMRQ2, HYC3
Proteins	WDR81_HUMAN
NCBI Gene ID	124997
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

WDR81 has 5,098 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 109 datasets.

Click the + buttons to view associations for WDR81 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

WDR81 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 WDR81 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 WDR81 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 WDR81 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 WDR81 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 WDR81 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 WDR81 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of WDR81 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 WDR81 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of WDR81 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 WDR81 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with WDR81 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with WDR81 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 WDR81 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of WDR81 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 WDR81 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 WDR81 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with WDR81 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing WDR81 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing WDR81 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 WDR81 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 WDR81 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 WDR81 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 WDR81 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with WDR81 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with WDR81 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with WDR81 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with WDR81 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of WDR81 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 WDR81 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving WDR81 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with WDR81 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with WDR81 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 WDR81 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 WDR81 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 WDR81 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with WDR81 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 WDR81 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 WDR81 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of WDR81 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 WDR81 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.