POMT2 Gene

HGNC Family	Glycosyltransferases
Name	protein-O-mannosyltransferase 2
Description	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nProtein O-mannosyltransferase 2 (POMT2) is a critical enzyme subunit that, in partnership with POMT1, catalyzes the initial step in the O‐mannosylation pathway within the endoplasmic reticulum. This enzymatic complex is required for the proper glycosylation of key proteins—most notably α‐dystroglycan—a modification essential for linking the cell’s cytoskeleton to the extracellular matrix and for ensuring normal muscle integrity and neuronal migration. Loss of this activity due to mutations disrupts these functions and underlies congenital muscular dystrophies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nStructural and biochemical studies have revealed that POMT2 is an integral membrane protein endowed with multiple transmembrane domains and conserved N‐glycosylation sites that are required to maintain its proper conformation and enzymatic function. Moreover, distinct transcriptional isoforms have been identified—one widely expressed in somatic tissues and another that is testis‐specific—indicating the enzyme’s versatile roles in different cellular contexts. These features underscore a finely tuned regulation of protein O-mannosylation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, mutations in the POMT2 gene have been linked to a broad spectrum of dystroglycanopathies. Defective POMT2 activity leads to diminished or aberrant glycosylation of α‐dystroglycan, which in turn causes phenotypes ranging from severe congenital muscular dystrophies such as Walker–Warburg syndrome and muscle–eye–brain disease to milder presentations like limb–girdle muscular dystrophy type 2N. In several studies, altered POMT2 function has also been associated with additional complications—including brain, ocular, cardiac, and even renal abnormalities—thereby expanding the recognized clinical spectrum of disorders arising from impaired O‐mannosyl glycan biosynthesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "20"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hiroshi Manya, Atsuro Chiba, Aruto Yoshida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0307228101"}], "href": "https://doi.org/10.1073/pnas.0307228101"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14699049"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14699049"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Caroline Godfrey, Emma Clement, Rachael Mein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awm212"}], "href": "https://doi.org/10.1093/brain/awm212"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17878207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17878207"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Tobias Willer, Werner Amselgruber, Rainer Deutzmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glycobiology (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/glycob/cwf086"}], "href": "https://doi.org/10.1093/glycob/cwf086"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12460945"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12460945"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mark Lommel, Tobias Willer, Sabine Strahl "}, {"type": "b", "children": [{"type": "t", "text": "POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glycobiology (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/glycob/cwn042"}], "href": "https://doi.org/10.1093/glycob/cwn042"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18490429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18490429"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hiroshi Manya, Keiko Akasaka-Manya, Ai Nakajima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvp170"}], "href": "https://doi.org/10.1093/jb/mvp170"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19880378"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19880378"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Keiko Akasaka-Manya, Hiroshi Manya, Masami Hayashi, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/01.wnl.0000268489.60809.c4"}], "href": "https://doi.org/10.1212/01.wnl.0000268489.60809.c4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17634419"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17634419"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2008.04.004"}], "href": "https://doi.org/10.1016/j.nmd.2008.04.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18513969"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18513969"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Hugo R Martinez, William J Craigen, Monika Ummat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2013.165"}], "href": "https://doi.org/10.1038/ejhg.2013.165"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24002165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24002165"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Terumi Murakami, Yukiko K Hayashi, Megumu Ogawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Dev (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.braindev.2008.08.005"}], "href": "https://doi.org/10.1016/j.braindev.2008.08.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18804929"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18804929"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Akiko Yanagisawa, Céline Bouchet, Susana Quijano-Roy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2008.12.004"}], "href": "https://doi.org/10.1016/j.ejmg.2008.12.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19138766"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19138766"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "POMT1 and POMT2 gene mutations result in 2 cases of "}, {"type": "a", "children": [{"type": "t", "text": "b"}], "href": "b"}, {"type": "t", "text": "alpha-"}, {"type": "a", "children": [{"type": "t", "text": "/b"}], "href": "/b"}, {"type": "t", "text": "dystroglycanopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhong Nan Da Xue Xue Bao Yi Xue Ban (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.11817/j.issn.1672-7347.2021.200067"}], "href": "https://doi.org/10.11817/j.issn.1672-7347.2021.200067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34565739"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34565739"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Xiangyu Zhao, Chunhai Gao, Lin Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Dev Neurosci (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jdn.10233"}], "href": "https://doi.org/10.1002/jdn.10233"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36217604"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36217604"}]}]}]}
Synonyms	MDDGC2, MDDGB2, LGMDR14, LGMD2N, MDDGA2
Proteins	POMT2_HUMAN
NCBI Gene ID	29954
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

POMT2 has 6,495 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 114 datasets.

Click the + buttons to view associations for POMT2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

POMT2 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 POMT2 gene relative to other tissues from the Allen Brain Atlas Adult Human 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 POMT2 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 POMT2 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 POMT2 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 POMT2 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 POMT2 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 POMT2 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 POMT2 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 POMT2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of POMT2 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 POMT2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with POMT2 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 POMT2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of POMT2 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 POMT2 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 POMT2 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with POMT2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing POMT2 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 POMT2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing POMT2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing POMT2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with POMT2 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 POMT2 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 POMT2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with POMT2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with POMT2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of POMT2 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 POMT2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving POMT2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving POMT2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with POMT2 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 POMT2 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 POMT2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with POMT2 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 POMT2 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 POMT2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of POMT2 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 POMT2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with POMT2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with POMT2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.