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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IRS4
insulin receptor substrate 4
Chromosome X · Xq22.3
NCBI Gene: 8471Ensembl: ENSG00000133124.12HGNC: HGNC:6128UniProt: A0A804CF45
223PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtransmembrane receptor protein tyrosine kinase adaptor activityinsulin-like growth factor receptor signaling pathwaycytosolneurodegenerative diseasehypothyroidism, congenital, nongoitrous, 9melanomacentral congenital hypothyroidism
✦AI Summary

IRS4 (insulin receptor substrate 4) is a scaffold protein that mediates signaling from growth factor receptors including insulin receptor, IGF1R, and FGFR1 to downstream effectors containing SH2 domains 1. The protein contains an N-terminal phosphotyrosine-binding (PTB) domain and pleckstrin homology (PH) domain that enable recruitment of signaling molecules 2. IRS4 promotes PI3K/AKT pathway activation and cell proliferation in response to growth factors 3. Notably, IRS4 lacks a SHP2-binding domain present in IRS1 and IRS2, enabling constitutive PI3K/AKT hyperactivation independent of insulin/IGF1 stimulation—a unique feature distinguishing it from other IRS family members 3. IRS4 plays roles in growth, reproduction, and glucose homeostasis [UniProt]. Pathologically, IRS4 is highly expressed in diverse cancers including breast, ovarian, gastric, and lung cancers 1. In ovarian cancer, FER tyrosine kinase phosphorylates IRS4 at Tyr779, enabling recruitment of the PI3K regulatory subunit PIK3R2 and driving tumor proliferation 2. IRS4 upregulation also occurs in benign tumors through chrX rearrangements 4. Clinically, IRS4 mutations cause X-linked congenital hypothyroidism 5, and IRS4 expression confers resistance to HER2-targeted breast cancer therapy 3.

Sources cited
1
IRS4 structure (PTB and PH domains), tissue expression, and role as oncogenic platform activating PI3K/AKT and MAP kinase cascades in multiple cancer types
PMID: 37760618
2
FER-mediated phosphorylation of IRS4 at Tyr779 recruits PIK3R2 and activates PI3K-AKT pathway in ovarian cancer
PMID: 35550247
3
IRS4 identified in genome-wide CRISPR screen as gene impacting mTORC1 signaling
PMID: 33483422
4
PILRB stabilizes IRS4 through deubiquitination, activating PI3K/AKT pathway in gastric cancer
PMID: 39227585
5
IRS4 overexpression occurs through chromosomal rearrangements in angioleiomyomas
PMID: 37889065
6
IRS4 mutations cause X-linked congenital hypothyroidism
PMID: 31789720
7
IRS4 lacks SHP2-binding domain enabling constitutive PI3K/AKT hyperactivation; confers HER2 therapy resistance in breast cancer
PMID: 27876799
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.53Moderate
hypothyroidism, congenital, nongoitrous, 9Open Targets
0.48Moderate
melanomaOpen Targets
0.39Weak
central congenital hypothyroidismOpen Targets
0.37Weak
brain glioblastomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
lung adenocarcinomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.29Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
endometrial carcinomaOpen Targets
0.28Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
breast carcinomaOpen Targets
0.28Weak
breast ductal adenocarcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
acute lymphoblastic leukemiaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
multiple myelomaOpen Targets
0.28Weak
Hypothyroidism, congenital, non-goitrous, 9UniProt
Pathogenic Variants4
NM_001379150.1(IRS4):c.1772dup (p.Lys592fs)Pathogenic
Hypothyroidism, congenital, nongoitrous, 9|not provided
★★☆☆2023→ Residue 592
NM_001379150.1(IRS4):c.643G>T (p.Gly215Ter)Likely pathogenic
Hypothyroidism, congenital, nongoitrous, 9|not provided
★☆☆☆2022→ Residue 215
NM_001379150.1(IRS4):c.3052G>T (p.Glu1018Ter)Likely pathogenic
not provided
★☆☆☆2021→ Residue 1018
NM_001379150.1(IRS4):c.3161_3165del (p.Cys1054fs)Pathogenic
Hypothyroidism, congenital, nongoitrous, 9
☆☆☆☆2019→ Residue 1054
View on ClinVar ↗
Related Genes
PIK3CDProtein interaction100%IGF1Protein interaction100%CRKProtein interaction99%IGF1RProtein interaction99%INSRProtein interaction99%PIK3CAProtein interaction99%
Tissue Expression6 tissues
Ovary
100%
Brain
10%
Bone Marrow
1%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
IRS4PIK3CDIGF1CRKIGF1RINSRPIK3CA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O14654
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.31 [0.21–0.48]
RankingsWhere IRS4 stands among ~20K protein-coding genes
  • #1,831of 20,598
    Most Researched223 · top 10%
  • #3,697of 5,498
    Most Pathogenic Variants4
  • #2,753of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedIRS4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Is Insulin Receptor Substrate4 (IRS4) a Platform Involved in the Activation of Several Oncogenes?
PMID: 37760618
Cancers (Basel) · 2023
1.00
2
FER-mediated phosphorylation and PIK3R2 recruitment on IRS4 promotes AKT activation and tumorigenesis in ovarian cancer cells.
PMID: 35550247
Elife · 2022
0.90
3
Genome-wide CRISPR screens reveal multitiered mechanisms through which mTORC1 senses mitochondrial dysfunction.
PMID: 33483422
Proc Natl Acad Sci U S A · 2021
0.80
4
PILRB potentiates the PI3K/AKT signaling pathway and reprograms cholesterol metabolism to drive gastric tumorigenesis and metastasis.
PMID: 39227585
Cell Death Dis · 2024
0.70
5
IRS4 promotes the progression of non-small cell lung cancer and confers resistance to EGFR-TKI through the activation of PI3K/Akt and Ras-MAPK pathways.
PMID: 33894221
Exp Cell Res · 2021
0.68