IMMP2L Gene

Name	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Description	This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The inner mitochondrial membrane peptidase subunit 2‐like protein (IMMP2L) is a mitochondrial protease that normally cleaves the signal peptide sequences from select imported proteins – including cytochrome c1 and mitochondrial glycerol phosphate dehydrogenase – thereby helping to maintain proper mitochondrial function and redox homeostasis. Alterations in IMMP2L, including deletions, mutations, or intronic rearrangements, have been implicated in a range of neurodevelopmental and neuropsychiatric conditions (for example, attention‐deficit/hyperactivity disorder, autism spectrum disorders, and Tourette syndrome) by perturbing neuronal gene expression and synaptic function (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": " In parallel, experimental mouse models harboring Immp2l mutations exhibit increased mitochondrial membrane potential and higher superoxide production that lead to oxidative stress, accelerated aging phenotypes, neurodegeneration, and compromised cellular functions in tissues such as brain, testis, and ovary—even in the absence of overt deficits in respiratory enzyme activities."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "11"}]}, {"type": "t", "text": " In the reproductive system, IMMP2L dysfunction is linked to impaired spermatogenesis and disrupted ovarian follicle growth via pathways that involve reactive oxygen species and aberrant regulation of developmental signals."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " Collectively, these studies support a dual role for IMMP2L in mitochondrial protein maturation and cellular redox regulation, with its deficiency contributing to a spectrum of conditions—from neurodevelopmental disorders and psychiatric susceptibility to accelerated aging and infertility—likely through increased oxidative stress and altered regulation of gene networks essential for normal cell and tissue homeostasis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "J Elia, X Gai, H M Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2009.57"}], "href": "https://doi.org/10.1038/mp.2009.57"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19546859"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19546859"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Alistair T Pagnamenta, Elena Bacchelli, Maretha V de Jonge, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Psychiatry (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biopsych.2010.02.002"}], "href": "https://doi.org/10.1016/j.biopsych.2010.02.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20346443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20346443"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Birgitte Bertelsen, Linea Melchior, Lars R Jensen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome."}]}, {"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.2014.24"}], "href": "https://doi.org/10.1038/ejhg.2014.24"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24549057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24549057"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Federica Baldan, Chiara Gnan, Alessandra Franzoni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cytogenet Genome Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000489001"}], "href": "https://doi.org/10.1159/000489001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29788020"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29788020"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Akira Gokoolparsadh, Zhiming Fang, Nady Braidy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional response to mitochondrial protease IMMP2L knockdown in human primary astrocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2016.12.024"}], "href": "https://doi.org/10.1016/j.bbrc.2016.12.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27932244"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27932244"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sunil K George, Yan Jiao, Colin E Bishop, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial peptidase IMMP2L mutation causes early onset of age-associated disorders and impairs adult stem cell self-renewal."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging Cell (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1474-9726.2011.00686.x"}], "href": "https://doi.org/10.1111/j.1474-9726.2011.00686.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21332923"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21332923"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yi Ma, Suresh L Mehta, Baisong Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deficiency in the inner mitochondrial membrane peptidase 2-like (Immp21) gene increases ischemic brain damage and impairs mitochondrial function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2011.06.019"}], "href": "https://doi.org/10.1016/j.nbd.2011.06.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21824519"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21824519"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Manish S Bharadwaj, Yu Zhou, Anthony J Molina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Examination of bioenergetic function in the inner mitochondrial membrane peptidase 2-like (Immp2l) mutant mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Redox Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.redox.2014.08.006"}], "href": "https://doi.org/10.1016/j.redox.2014.08.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25460737"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25460737"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Chunlian Liu, Xue Li, Baisong Lu "}, {"type": "b", "children": [{"type": "t", "text": "The Immp2l mutation causes age-dependent degeneration of cerebellar granule neurons prevented by antioxidant treatment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging Cell (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/acel.12426"}], "href": "https://doi.org/10.1111/acel.12426"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26616244"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26616244"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Yi Ma, Zijing Zhang, Zhirong Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Suppression of Inner Mitochondrial Membrane Peptidase 2-Like (IMMP2L) Gene Exacerbates Hypoxia-Induced Neural Death Under High Glucose Condition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurochem Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11064-017-2207-y"}], "href": "https://doi.org/10.1007/s11064-017-2207-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28316022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28316022"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Chun-Lian Liu, Qian Zhang, Shao-Hua Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Lycium barbarum polysaccharide reduces testicular spermatogenic injury in Immp2l－/－mice through GPX4 and AIF pathways]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Nan Ke Xue (2021)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34914312"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34914312"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Qing He, Lifang Gu, Qingyin Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Immp2l Mutation Causes Ovarian Aging Through ROS-Wnt/β-Catenin-Estrogen Pathway: Preventive Effect of Melatonin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/endocr/bqaa119"}], "href": "https://doi.org/10.1210/endocr/bqaa119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32652035"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32652035"}]}]}]}
Synonyms	IMP2-LIKE, IMMP2L-IT1
Proteins	IMP2L_HUMAN
NCBI Gene ID	83943
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

IMMP2L has 15,482 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for IMMP2L from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with IMMP2L 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 IMMP2L gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of IMMP2L 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 IMMP2L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing IMMP2L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing IMMP2L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with IMMP2L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with IMMP2L gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with IMMP2L gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with IMMP2L 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 IMMP2L 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 IMMP2L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L 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 IMMP2L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with IMMP2L 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 IMMP2L 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 IMMP2L gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of IMMP2L 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 IMMP2L from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with IMMP2L gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with IMMP2L gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.