INVS (Inversin)
Key regulator of planar cell polarity and renal development
Gene Information Card
| Symbol | INVS |
|---|---|
| Full Name | inversin |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 27130 ncbi.nlm.nih.gov/gene/27130 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q9Y283 |
| OMIM ID | 243305 |
| HGNC ID | 17870 |
| Aliases | NPHP2, INV, NPH2 |
Description
The INVS gene encodes inversin, a protein involved in planar cell polarity (PCP) signaling and ciliary function. Inversin acts as a molecular switch between canonical and non-canonical Wnt signaling pathways. Mutations in INVS cause nephronophthisis type 2 (NPHP2), an autosomal recessive kidney disease characterized by renal fibrosis and cyst formation, often associated with situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis type 2 (NPHP2) | Loss of inversin disrupts ciliary signaling and planar cell polarity, leading to renal tubular cysts and fibrosis. | OMIM #602088; ClinVar pathogenic variants |
| Situs inversus | Inversin deficiency impairs left-right axis determination during embryonic development, causing reversed organ placement. | OMIM #243305; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Testis | 6.1 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma |
| A549 | 5.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2678G>A (p.Arg893Gln) | Missense | Rare | Loss of function; disrupts protein stability |
| c.1627C>T (p.Arg543*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1090_1091delCT | Frameshift | Rare | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most INVS mutations are loss-of-function, leading to reduced or absent inversin activity, causing NPHP2.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • Wnt signaling pathway (GO:0016055) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
Pathways
• Wnt signaling pathway (canonical and non-canonical)
• Planar cell polarity pathway
• Ciliopathy-associated pathways
Protein Summary
Inversin is a 1062-amino acid protein containing ankyrin repeats and IQ calmodulin-binding motifs. It localizes to the primary cilium and centrosome, where it regulates Wnt signaling by promoting the degradation of Dishevelled (DVL) in response to Wnt5a, thereby switching from canonical to non-canonical PCP signaling. Inversin is essential for renal tubule morphogenesis and left-right axis determination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INVS Knockout HEK293 Cell Line | EDJ-KQ311 | Human | 27130 | Details Get a Quote |
| INVS Knockout A-549 Cell Line | EDJ-KQ18445 | Human | 27130 | Details Get a Quote |
| INVS Knockout HCT 116 Cell Line | EDJ-KQ18446 | Human | 27130 | Details Get a Quote |
| INVS Knockout HeLa Cell Line | EDJ-KQ18447 | Human | 27130 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
