PXK Gene

Name	PX domain containing serine/threonine kinase
Description	This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent genome‐wide association studies have implicated the PXK gene as a susceptibility locus for several autoimmune diseases. In particular, early evidence in systemic lupus erythematosus (SLE) identified an association at 3p14.3 in European cohorts, which was subsequently extended to rheumatoid arthritis and systemic sclerosis. These studies have underscored that while PXK contributes to disease predisposition—especially through its effects on autoantibody production and disease subphenotypes—the strength of this genetic association appears to vary across populations, with replication challenges noted in Asian cohorts."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the functional level, PXK encodes a multimodular protein that features a phox (PX) domain, a protein kinase–like region, and a WASP homology 2 domain. The PX domain targets the protein to endosomal membranes via its binding to phosphatidylinositol 3‑phosphate, a critical step in regulating receptor trafficking. In cellular models, PXK expression accelerates ligand-induced internalization and degradation of receptors such as the epidermal growth factor receptor by enhancing receptor ubiquitination. Moreover, evidence from studies of apoptosis signaling reveals that PXK can promote receptor endocytosis in the context of TRAIL-induced apoptosis, thereby contributing to cellular resistance to apoptotic stimuli."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its roles in immune regulation, emerging data suggest that PXK may also impact reproductive biology. Genetic variants within the PXK locus have been linked to reduced sperm counts and have been investigated in the context of unexplained recurrent pregnancy loss, pointing toward a pleiotropic influence of PXK on diverse physiological processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "John B Harley, Marta E Alarcón-Riquelme, Lindsey A Criswell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.81"}], "href": "https://doi.org/10.1038/ng.81"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18204446"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18204446"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Eli A Stahl, Soumya Raychaudhuri, Elaine F Remmers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.582"}], "href": "https://doi.org/10.1038/ng.582"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20453842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20453842"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jose-Ezequiel Martin, Shervin Assassi, Lina-Marcela Diaz-Gallo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddt248"}], "href": "https://doi.org/10.1093/hmg/ddt248"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23740937"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23740937"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "W Yang, P Ng, M Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Immun (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gene.2009.1"}], "href": "https://doi.org/10.1038/gene.2009.1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19225526"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19225526"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Nina Y Oparina, Angelica M Delgado-Vega, Manuel Martinez-Bueno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/annrheumdis-2013-204909"}], "href": "https://doi.org/10.1136/annrheumdis-2013-204909"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24534757"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24534757"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Young Ho Lee, Sung Jae Choi, Jong Dae Ji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations between PXK and TYK2 polymorphisms and systemic lupus erythematosus: a meta-analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Inflamm Res (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00011-012-0486-y"}], "href": "https://doi.org/10.1007/s00011-012-0486-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22592861"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22592861"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Eun-Mi Kim, So-Young Bang, Il Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Different genetic effect of PXK on systemic lupus erythematosus in the Korean population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Rheumatol Int (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00296-010-1789-3"}], "href": "https://doi.org/10.1007/s00296-010-1789-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21243490"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21243490"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "B Yu, Q Wu, Y Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphisms of PXK are associated with autoantibody production, but not disease risk, of systemic lupus erythematosus in Chinese mainland population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lupus (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0961203310378671"}], "href": "https://doi.org/10.1177/0961203310378671"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20829310"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20829310"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Hiroshi Takeuchi, Takako Takeuchi, Jing Gao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of PXK as a protein involved in epidermal growth factor receptor trafficking."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01105-09"}], "href": "https://doi.org/10.1128/MCB.01105-09"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20086096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20086096"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jonathan So, Adrian Pasculescu, Anna Y Dai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Signal (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/scisignal.2005700"}], "href": "https://doi.org/10.1126/scisignal.2005700"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25852190"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25852190"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Manuel Gentiluomo, Alice Luddi, Annapaola Cingolani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Telomere Length and Male Fertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22083959"}], "href": "https://doi.org/10.3390/ijms22083959"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33921254"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33921254"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Guihong Song, Junhao Yan, Guangyu Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reprod Biomed Online (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.rbmo.2014.12.002"}], "href": "https://doi.org/10.1016/j.rbmo.2014.12.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25596907"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25596907"}]}]}]}
Synonyms	SLOB, MONAKA
Proteins	PXK_HUMAN
NCBI Gene ID	54899
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PXK has 5,385 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 118 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

PXK 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 PXK gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PXK 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 PXK 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 PXK 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 PXK 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 PXK 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 PXK 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 PXK 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 PXK 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 PXK 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 PXK gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PXK gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PXK protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PXK 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 PXK gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PXK 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 PXK gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of PXK gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PXK protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PXK protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing PXK 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 PXK 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 PXK 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 PXK 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 PXK gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PXK gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with PXK gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PXK 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 PXK 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 PXK gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PXK gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PXK gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PXK 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 PXK 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 PXK 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 PXK 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 PXK gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PXK 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 PXK 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 PXK gene from the ENCODE Transcription Factor Binding Site Profiles dataset.