Contents

INVS

Protein-coding gene in the species Homo sapiens

INVS
Identifiers
Aliases	INVS, INV, NPH2, NPHP2, inversin
External IDs	OMIM: 243305; MGI: 1335082; HomoloGene: 7786; GeneCards: INVS; OMA:INVS - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q31.1 Start 100,099,243 bp[1] End 100,302,175 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 B1|4 26.11 cM Start 48,279,760 bp[2] End 48,431,954 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve gonad pancreatic ductal cell sperm left ovary right lobe of liver ventricular zone testicle stromal cell of endometrium Top expressed in saccule lumbar spinal ganglion fossa vestibular membrane of cochlear duct pituitary gland tail of embryo Ileal epithelium condyle aortic valve ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding calmodulin binding Cellular component cytoplasm spindle cell projection cilium microtubule cytoskeleton membrane nucleus Biological process multicellular organism development Wnt signaling pathway negative regulation of canonical Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27130 16348 Ensembl ENSG00000119509 ENSMUSG00000028344 UniProt Q9Y283 Q2M1I4 O89019 RefSeq (mRNA) NM_014425 NM_183245 NM_001318381 NM_001318382 NM_001281977 NM_001281978 NM_010569 RefSeq (protein) NP_001305310 NP_001305311 NP_055240 NP_001305310.1 n/a Location (UCSC) Chr 9: 100.1 – 100.3 Mb Chr 4: 48.28 – 48.43 Mb PubMed search [3] [4]
Wikidata
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Inversin is a protein that in humans is encoded by the INVS gene.^[5][6]

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.^[6]

Interactions[edit]

INVS has been shown to interact with NPHP1.^[5]

References[edit]

Further reading[edit]

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