MPZL2 Gene

HGNC Family	Immunoglobulin superfamily domain containing
Name	myelin protein zero-like 2
Description	Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMPZL2, also known as epithelial V‐like antigen 1 (EVA1), encodes a conserved type I transmembrane glycoprotein that plays diverse roles in cell adhesion and signal transduction. In the human choroid plexus, MPZL2 is highly expressed in epithelial cells and a subset of CD4⁺ T lymphocytes, where it regulates immune cell adhesion and intracellular calcium signaling to help maintain blood–cerebrospinal fluid barrier integrity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In glioblastoma‐initiating cells, MPZL2 promotes self‐renewal and tumorigenesis by recruiting TRAF2 to its cytoplasmic tail and activating the noncanonical NF‑κB pathway"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", while in breast epithelial cells, it interacts via its transmembrane segment with the p53‑/p63‑regulated protein CLCA2 to promote epithelial differentiation and prevent epithelial‐to‐mesenchymal transition."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the auditory system, MPZL2 is critical for proper inner ear function. Genetic studies in multiple populations have identified both truncating and missense variants in MPZL2 that co‐segregate with autosomal recessive, non‐syndromic sensorineural hearing loss, typically manifesting as mild to moderate progressive deficits. Expression of Mpzl2 in mouse inner ear hair cells—with its specific subcellular localization—supports its essential role in auditory physiology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, aberrant MPZL2 expression contributes to oncogenic processes in other tissues. In hepatocellular carcinoma, overexpression of MPZL2 enhances cell proliferation, invasion, and metastasis by upregulating the ERBB3–PI3K–AKT signaling pathway"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", and in acute myeloid leukemia, elevated MPZL2 levels are associated with a distinct gene expression profile and serve as a prognostic indicator of poor overall survival in patients with FLT3‑ITD mutations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " \n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Elise Wojcik, Lisette M Carrithers, Michael D Carrithers "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of epithelial V-like antigen in human choroid plexus epithelial cells: potential role in CNS immune surveillance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2011.03.051"}], "href": "https://doi.org/10.1016/j.neulet.2011.03.051"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21440040"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21440040"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Naoki Ohtsu, Yuka Nakatani, Daisuke Yamashita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-15-0884"}], "href": "https://doi.org/10.1158/0008-5472.CAN-15-0884"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26677976"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26677976"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Grace Ramena, Yufang Yin, Yang Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CLCA2 Interactor EVA1 Is Required for Mammary Epithelial Cell Differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0147489"}], "href": "https://doi.org/10.1371/journal.pone.0147489"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26930581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26930581"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Guney Bademci, Clemer Abad, Armagan Incesulu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-018-1901-4"}], "href": "https://doi.org/10.1007/s00439-018-1901-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29982980"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29982980"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ghita Amalou, Crystel Bonnet, Zied Riahi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2020.110481"}], "href": "https://doi.org/10.1016/j.ijporl.2020.110481"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33234333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33234333"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Weitao Li, Luo Guo, Bing Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2023.111635"}], "href": "https://doi.org/10.1016/j.ijporl.2023.111635"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37390746"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37390746"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Emma Lo, Justin Blair, Nobuko Yamamoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.63530"}], "href": "https://doi.org/10.1002/ajmg.a.63530"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38197511"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38197511"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-023-01786-3"}], "href": "https://doi.org/10.1186/s12920-023-01786-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38254107"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38254107"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "QianZhi Ni, Zhenhua Chen, Qianwen Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cas.14331"}], "href": "https://doi.org/10.1111/cas.14331"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31997489"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31997489"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Nasr Eshibona, Abdulazeez Giwa, Sophia Catherine Rossouw, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Upregulation of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "FHL1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ", "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SPNS3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ", and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MPZL2"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " predicts poor prognosis in pediatric acute myeloid leukemia patients with "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "FLT3-ITD"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Leuk Lymphoma (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/10428194.2022.2045594"}], "href": "https://doi.org/10.1080/10428194.2022.2045594"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35249471"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35249471"}]}]}]}
Synonyms	EVA1, DFNB111
Proteins	MPZL2_HUMAN
NCBI Gene ID	10205
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MPZL2 has 6,005 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 107 datasets.

Click the + buttons to view associations for MPZL2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MPZL2 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of MPZL2 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 MPZL2 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 MPZL2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MPZL2 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 MPZL2 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 MPZL2 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 MPZL2 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 MPZL2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MPZL2 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 MPZL2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MPZL2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MPZL2 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 MPZL2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MPZL2 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 MPZL2 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 MPZL2 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 MPZL2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MPZL2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MPZL2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MPZL2 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 MPZL2 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 MPZL2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MPZL2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with MPZL2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with MPZL2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MPZL2 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 MPZL2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving MPZL2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with MPZL2 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 MPZL2 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 MPZL2 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 MPZL2 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 MPZL2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MPZL2 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 MPZL2 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 MPZL2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MPZL2 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 MPZL2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of MPZL2 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with MPZL2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.