Identity
HGNC
LOCATION
9q31.1
LOCUSID
ALIAS
INV,NPH2,NPHP2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27130
MIM: 243305
HGNC: 17870
Ensembl: ENSG00000119509
Variants:
dbSNP: 27130
ClinVar: 27130
TCGA: ENSG00000119509
COSMIC: INVS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000119509 | ENST00000262456 | Q9Y283 |
| ENSG00000119509 | ENST00000262457 | Q9Y283 |
| ENSG00000119509 | ENST00000262457 | A0A024R153 |
| ENSG00000119509 | ENST00000374921 | Q9Y283 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Wnt signaling pathway | KEGG | ko04310 |
| Wnt signaling pathway | KEGG | hsa04310 |
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10066 | duloxetine | Chemical | ClinicalAnnotation | associated | PD | 29407288 | |
| PA447321 | Depressive Disorder, Major | Disease | ClinicalAnnotation | associated | PD | 29407288 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31895004 | 2020 | Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy. | 20 |
| 32335886 | 2020 | [Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2]. | 1 |
| 31895004 | 2020 | Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy. | 20 |
| 32335886 | 2020 | [Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2]. | 1 |
| 30598432 | 2019 | Patched1-ArhGAP36-PKA-Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation. | 17 |
| 30598432 | 2019 | Patched1-ArhGAP36-PKA-Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation. | 17 |
| 28618971 | 2017 | Inversin correlates with the malignant phenotype of non-small cell lung cancer and promotes the invasiveness of lung cancer cells. | 1 |
| 28618971 | 2017 | Inversin correlates with the malignant phenotype of non-small cell lung cancer and promotes the invasiveness of lung cancer cells. | 1 |
| 27220846 | 2016 | Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia. | 33 |
| 27220846 | 2016 | Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia. | 33 |
| 23559409 | 2013 | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 125 |
| 23793029 | 2013 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. | 106 |
| 23559409 | 2013 | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 125 |
| 23793029 | 2013 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. | 106 |
| 21068128 | 2011 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. | 72 |
Citation
Dessen P
INVS (inversin)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/57004/invs-(inversin)
