ERBIN: Erbb2 Interacting Protein – Structure, Function, and Clinical Relevance
A comprehensive biomedical overview of the ERBIN gene, including its genomic context, expression patterns, associated diseases, and mutational landscape.
Gene Information Card
| Symbol | ERBIN |
|---|---|
| Full Name | erbb2 interacting protein |
| Gene Type | protein coding |
| Chromosomal Location | 5q12.3 |
| NCBI Gene ID | 55914 ncbi.nlm.nih.gov/gene/55914 |
| Ensembl ID | ENSG00000112812 |
| UniProt ID | Q96RT1 |
| OMIM ID | 606944 |
| HGNC ID | 15807 |
| Aliases | ERBB2IP, LAP2, MGC138211, MGC138213 |
Description
ERBIN (erbb2 interacting protein) encodes a protein that belongs to the leucine-rich repeat and PDZ domain (LAP) family. It interacts with the receptor tyrosine kinase ERBB2 (HER2) and is involved in cell polarity, signaling, and junction assembly. The gene is located on chromosome 5q12.3 and is widely expressed in normal tissues. Mutations and altered expression of ERBIN have been implicated in cancer, particularly breast cancer, and in developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ERBIN interacts with ERBB2; loss of ERBIN expression may enhance ERBB2 signaling and promote tumorigenesis | PMID: 15616553, 19632184 |
| Colorectal cancer | Reduced ERBIN expression correlates with poor prognosis and may affect Wnt/β-catenin signaling | PMID: 21502563 |
| Lung cancer | ERBIN downregulation associated with increased invasiveness and metastasis | PMID: 23382211 |
| Intellectual disability (non-syndromic) | Homozygous loss-of-function mutations in ERBIN identified in affected individuals | PMID: 28416535 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.2 | Medium |
| Heart | 8.5 | Low |
| Kidney | 12.1 | Medium |
| Liver | 6.3 | Low |
| Lung | 10.8 | Medium |
| Mammary gland | 15.7 | Medium |
| Colon | 11.4 | Medium |
| Ovary | 9.2 | Low |
| Testis | 7.1 | Low |
| Skin | 13.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | High expression |
| HCT116 (colorectal cancer) | 14.2 | Medium expression |
| A549 (lung cancer) | 11.8 | Medium expression |
| HEK293 (embryonic kidney) | 9.3 | Low expression |
| HeLa (cervical cancer) | 12.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; truncation of PDZ domain |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Unknown; possibly damaging |
| c.1582_1583del (p.Leu528Glufs*2) | Frameshift | Rare | Loss of function; premature stop |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, reducing ERBB2 binding and disrupting cell polarity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ERBIN.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ERBIN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ERBB signaling pathway (Reactome: R-HSA-1226099)
• Cell junction organization (Reactome: R-HSA-446728)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
The ERBIN protein (UniProt Q96RT1) is a 1,371-amino-acid scaffold containing a PDZ domain and multiple leucine-rich repeats. It localizes to the basolateral membrane in epithelial cells and binds to ERBB2 (HER2) via its PDZ domain, modulating receptor signaling and cell polarity. ERBIN also interacts with other proteins such as delta-catenin and p0071, contributing to junctional integrity. Loss of ERBIN expression is observed in several cancers and correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERBIN Knockout HEK293 Cell Line | EDJ-KQ2868 | Human | 55914 | Details Get a Quote |
| ERBIN Knockout A-549 Cell Line | EDJ-KQ23900 | Human | 55914 | Details Get a Quote |
| ERBIN Knockout HCT 116 Cell Line | EDJ-KQ23901 | Human | 55914 | Details Get a Quote |
| ERBIN Knockout HeLa Cell Line | EDJ-KQ23902 | Human | 55914 | Details Get a Quote |
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