Symbol: Name: ID: |
INVS inversin GFS:6773 |
Gene name: | INVS |
Chromosome: | 9q31 |
Previous Symbols: | NPHP2 |
Previous Names: | nephronophthisis 2 (infantile) |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1335082 | Rat Genome Database ID: | RGD:1563359 |
HGNC ID: | HGNC:17870 | RefSeq IDs: | NM_014425 |
Entrez Gene ID: | 27130 | Ensembl Gene ID: | ENSG00000119509 |
VEGA IDs: | OTTHUMG00000020364 | UniProt ID: | Q9Y283 |
UCSC ID: | uc004bap.1 | OMIM ID: | 243305 |
Pubmed: | PMID12872123 | ||
CCDS IDs: | CCDSCCDS6746.1 CCDS CCDS6747.1 |
Inversin is a protein that in humans is encoded by the INVS gene.
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Function: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling.
Products for INVS gene
Catalog | Product Name | Application | Company |
GFS:E06773 | inversin; ELISA kit | ELISA | n/a |
GFS:A06773 | inversin; Anti | ANTIBODIES | n/a |
GFS:P06773 | inversin; Protien | Protien | n/a |