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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERBIN
erbb2 interacting protein
Chromosome 5 · 5q12.3
NCBI Gene: 55914Ensembl: ENSG00000112851.16HGNC: HGNC:15842UniProt: A0A8V8TML4
169PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranebasolateral plasma membranecell junctionhemidesmosomecancerovarian neoplasmmusculoskeletal system diseasealcohol drinking
✦AI Summary

ERBIN functions as a critical adapter protein that regulates receptor signaling and inflammatory responses in epithelial cells. Its primary role involves binding to the unphosphorylated tyrosine-1248 residue of ERBB2 receptor, potentially stabilizing this inactive state and modulating ERBB2 signaling 1. ERBIN acts as a negative regulator of inflammatory pathways by inhibiting NOD2-dependent NF-κB signaling and reducing pro-inflammatory cytokine secretion 1. The protein also plays important roles in cellular adhesion and cytoskeletal organization through its localization at cell junctions, hemidesmosomes, and basement membranes. ERBIN deficiency has significant disease implications, particularly in cancer progression where it functions as a tumor suppressor. In glioblastoma, ERBIN expression is epigenetically silenced by RAS signaling, and its restoration inhibits RAS-mediated proliferation and invasion 2. In platelets and megakaryocytes, ERBIN regulates mitochondrial function and immune responses, with knockout promoting B cell-mediated antitumor immunity 3. Clinically, ERBIN mutations cause rare primary atopic disorders characterized by allergic disease and connective tissue abnormalities, likely through enhanced TGFβ signaling pathways 1. ERBIN has also emerged as a potential target for cancer immunotherapy, with mutation-specific CD4+ T cells recognizing ERBIN variants showing therapeutic efficacy in cholangiocarcinoma 4.

Sources cited
1
ERBIN mutations lead to primary atopic disorders and allow enhanced TGFβ signaling while preventing STAT3 negative regulation
PMID: 37369151
2
ERBIN functions as tumor suppressor in glioblastoma, is epigenetically silenced by RAS signaling, and its restoration inhibits tumor progression
PMID: 38773970
3
ERBIN regulates mitochondrial oxidative phosphorylation in platelets/megakaryocytes and affects B cell-mediated antitumor immunity
PMID: 38232736
4
ERBIN mutations can be recognized by CD4+ T cells for cancer immunotherapy in cholangiocarcinoma
PMID: 24812403
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cancerOpen Targets
0.60Moderate
ovarian neoplasmOpen Targets
0.31Weak
musculoskeletal system diseaseOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.29Weak
tuberculosisOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.25Weak
adolescent idiopathic scoliosisOpen Targets
0.25Weak
food allergyOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
SepsisOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMAD3Protein interaction100%NOD2Protein interaction99%CTNND1Protein interaction94%PKP4Protein interaction94%GRB2Protein interaction93%ERBB3Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
72%
Heart
53%
Liver
46%
Lung
36%
Ovary
34%
Gene Interaction Network
Click a node to explore
ERBINSMAD3NOD2CTNND1PKP4GRB2ERBB3
PROTEIN STRUCTURE
Preparing viewer…
PDB2H3L · 1.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.72Intermediate
Observed/Expected LoF0.39 [0.29–0.53]
RankingsWhere ERBIN stands among ~20K protein-coding genes
  • #2,621of 20,598
    Most Researched169 · top quartile
  • #3,273of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedERBIN
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
PMID: 31286804
Autophagy · 2020
1.00
2
Targeting Erbin-mitochondria axis in platelets/megakaryocytes promotes B cell-mediated antitumor immunity.
PMID: 38232736
Cell Metab · 2024
0.90
3
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
PMID: 39381601
Allergol Select · 2024
0.80
4
ERBIN and phosphoglucomutase 3 deficiency.
PMID: 37369151
Curr Opin Immunol · 2023
0.70
5
VCPIP1 negatively regulates NF-κB signaling pathways by deubiquitinating and stabilizing Erbin in MDP-stimulated macrophages.
PMID: 39550842
Int Immunopharmacol · 2024
0.68