IER3IP1 Gene

Name	immediate early response 3 interacting protein 1
Description	This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Immediate early response 3‐interacting protein 1 (IER3IP1) is an 82–amino acid endoplasmic reticulum–resident protein that contains a G‐patch domain—often implicated in RNA‐binding—and is expressed in multiple tissues including the fetal brain, pancreas, heart, skeletal muscle, and kidney."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Functional characterization indicates that IER3IP1 plays a critical role in mediating cellular responses to stress. Its promoter is activated by transcription factors such as Sp1 and NF‑κB in response to stressors including TNF‑α, suggesting that IER3IP1 is an early responder in cellular stress pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Several studies have linked loss‐of‐function mutations in IER3IP1 to a distinct syndrome—microcephaly with simplified gyral pattern, severe infantile epileptic encephalopathy, and permanent neonatal diabetes (MEDS)—likely due to an increased predisposition to apoptosis in neurons and pancreatic β‐cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "6"}]}, {"type": "t", "text": " In these contexts, failure to control stress‐induced apoptotic signals is thought to underlie the neurodevelopmental and pancreatic dysfunction observed in affected patients."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, experimental modulation of IER3IP1 expression in cellular models such as the K562 leukemia cell line has demonstrated that altering IER3IP1 levels impacts cell proliferation and differentiation. Specifically, its transient upregulation is associated with early responses to differentiation triggers, whereas sustained reduction correlates with enhanced proliferation and impaired erythroid maturation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, IER3IP1 functions as a key endoplasmic reticulum protein that modulates cellular stress responses, apoptosis, and differentiation. Its proper expression appears essential for the survival and maturation of specific cell types—especially neurons and pancreatic β‐cells—and its dysregulation contributes to severe developmental and metabolic phenotypes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Wai Han Yiu, Jodie Wing Ming Poon, Stephen Kwok Wing Tsui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2004.04.033"}], "href": "https://doi.org/10.1016/j.gene.2004.04.033"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15276200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15276200"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Wai Han Yiu, Tsz Lun Yeung, Jodie Wing Ming Poon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Biochem Funct (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/cbf.1613"}], "href": "https://doi.org/10.1002/cbf.1613"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19885854"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19885854"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ghada M H Abdel-Salam, Ashleigh E Schaffer, Maha S Zaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.35583"}], "href": "https://doi.org/10.1002/ajmg.a.35583"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22991235"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22991235"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Cathryn J Poulton, Rachel Schot, Sima Kheradmand Kia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.07.006"}], "href": "https://doi.org/10.1016/j.ajhg.2011.07.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21835305"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21835305"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Juan Sun, Decheng Ren "}, {"type": "b", "children": [{"type": "t", "text": "IER3IP1 deficiency leads to increased β-cell death and decreased β-cell proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.18179"}], "href": "https://doi.org/10.18632/oncotarget.18179"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28915629"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28915629"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Khouloud Rjiba, Najla Soyah, Molka Kammoun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2021.104285"}], "href": "https://doi.org/10.1016/j.ejmg.2021.104285"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34229114"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34229114"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Wei-jia Wang, Yan Zhang, Feng-xia Huang "}, {"type": "b", "children": [{"type": "t", "text": "[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Xue Ye Xue Za Zhi (2007)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18476594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18476594"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yan Lei, Yan Zhang, Yong-Qiang Wang "}, {"type": "b", "children": [{"type": "t", "text": "[Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Xue Ye Xue Za Zhi (2009)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19951536"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19951536"}]}]}]}
Synonyms	MEDS, HSPC039, PRO2309
Proteins	IR3IP_HUMAN
NCBI Gene ID	51124
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

IER3IP1 has 4,882 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 109 datasets.

Click the + buttons to view associations for IER3IP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with IER3IP1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of IER3IP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of IER3IP1 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 IER3IP1 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 IER3IP1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with IER3IP1 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 IER3IP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing IER3IP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing IER3IP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 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 IER3IP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with IER3IP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with IER3IP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of IER3IP1 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 IER3IP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving IER3IP1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving IER3IP1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with IER3IP1 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 IER3IP1 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 IER3IP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with IER3IP1 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 IER3IP1 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 IER3IP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of IER3IP1 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 IER3IP1 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 IER3IP1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.