MINAR2 Gene

Name membrane integral NOTCH2 associated receptor 2
Description Enables cholesterol binding activity. Involved in angiogenesis. Located in endoplasmic reticulum. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMINAR2 encodes a membrane‐integral NOTCH2-associated receptor that has emerged as essential for normal auditory function. Genetic studies in humans and mice have demonstrated that loss-of-function variants in MINAR2 disrupt proper inner ear structure and function, leading to congenital- or prelingual-onset, severe-to-profound sensorineural hearing loss. In mouse models, expression of Minar2 in hair cells, the spiral ganglia, the spiral limbus, and stria vascularis is critical, with its deficiency causing a reduction in the stereocilia of outer hair cells and progressive degeneration of these sensory cells over time."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n \nAdditionally, MINAR2 has been implicated in metabolic regulation as an understudied protein in the context of obesity and type 2 diabetes. Recent investigations are exploring its impact on adipose tissue biology and energy homeostasis, suggesting that apart from its essential role in auditory physiology, MINAR2 may also contribute to metabolic pathways associated with chronic metabolic disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MINAR2"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2204084119"}], "href": "https://doi.org/10.1073/pnas.2204084119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35727972"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35727972"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Saran Lotfollahzadeh, Chaoshuang Xia, Razie Amraei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inactivation of Minar2 in mice hyperactivates mTOR signaling and results in obesity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Metab (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molmet.2023.101744"}], "href": "https://doi.org/10.1016/j.molmet.2023.101744"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37245847"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37245847"}]}]}]}
NCBI Gene ID 100127206
API
Download Associations
Predicted Functions View MINAR2's ARCHS4 Predicted Functions.
Co-expressed Genes View MINAR2's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View MINAR2's ARCHS4 Predicted Functions.

Functional Associations

MINAR2 has 1,164 functional associations with biological entities spanning 5 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 22 datasets.

Click the + buttons to view associations for MINAR2 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of MINAR2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with MINAR2 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of MINAR2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing MINAR2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with MINAR2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving MINAR2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with MINAR2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with MINAR2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving MINAR2 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing MINAR2 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by MINAR2 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of MINAR2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with MINAR2 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by MINAR2 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of MINAR2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of MINAR2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of MINAR2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of MINAR2 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of MINAR2 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of MINAR2 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of MINAR2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with MINAR2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.