LIN7B Gene - LIN7 Homolog B, Crumbs Cell Polarity Complex Component
Comprehensive genomic and proteomic analysis of LIN7B, a member of the LIN-7 family involved in cell polarity and vesicle trafficking.
Gene Information Card
| Symbol | LIN7B |
|---|---|
| Full Name | lin-7 homolog B, crumbs cell polarity complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 64130 ncbi.nlm.nih.gov/gene/64130 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9HAP6 |
| OMIM ID | 612331 |
| HGNC ID | 17787 |
| Aliases | LIN-7B, MALS-2, VELI2, LIN7B_HUMAN |
Description
LIN7B (lin-7 homolog B) encodes a member of the LIN-7 family of scaffold proteins that are components of the crumbs cell polarity complex. The protein localizes to epithelial tight junctions and neuronal synapses, where it mediates protein-protein interactions essential for establishing and maintaining cell polarity, vesicle trafficking, and receptor localization. LIN7B interacts with CASK, APBA1, and other PDZ domain-containing proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | LIN7B overexpression correlates with poor prognosis; may promote cell migration and invasion via polarity disruption. | PMID: 30872563 |
| Breast cancer | LIN7B downregulation associated with epithelial-mesenchymal transition and metastasis. | PMID: 25636800 |
| Intellectual disability | Rare LIN7B variants identified in patients with neurodevelopmental disorders; potential role in synaptic function. | ClinVar SCV000804123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.1 | Low |
| Testis | 18.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney cell line |
| HepG2 | 7.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 16.8 | Neuroblastoma cell line |
| MCF7 | 5.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70Cys) | Missense | <0.01% | Alters PDZ domain; reduced binding to CASK |
| c.334G>A (p.Gly112Ser) | Missense | <0.01% | Located in L27 domain; unknown functional effect |
| c.421_423del (p.Lys141del) | In-frame deletion | <0.01% | May disrupt protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants in PDZ domain (e.g., p.Arg70Cys) reduce interaction with CASK, impairing polarity complex assembly.
Gain of Function (GOF)
No gain-of-function mutations reported in LIN7B.
Dominant Negative (DN)
Not described for LIN7B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Crb polarity complex pathway (Reactome: R-HSA-420029)
• Tight junction interactions (KEGG: hsa04530)
• Adherens junction (KEGG: hsa04520)
Protein Summary
LIN7B is a 233-amino acid scaffold protein containing an N-terminal L27 domain and a C-terminal PDZ domain. It forms heterotrimeric complexes with CASK and APBA1, linking cell surface receptors to the cytoskeleton. The protein is essential for the localization of junctional proteins such as claudins and cadherins. LIN7B is widely expressed, with highest levels in brain and testis. Its PDZ domain binds to the C-termini of target proteins, regulating their trafficking and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIN7B Knockout HEK293 Cell Line | EDJ-KQ14076 | Human | 64130 | Details Get a Quote |
| LIN7B Knockout A-549 Cell Line | EDJ-KQ43987 | Human | 64130 | Details Get a Quote |
| LIN7B Knockout HCT 116 Cell Line | EDJ-KQ43988 | Human | 64130 | Details Get a Quote |
| LIN7B Knockout HeLa Cell Line | EDJ-KQ42757 | Human | 64130 | Details Get a Quote |
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