INVS

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Inversin
Identifiers
Symbols INVS ; INV; NPH2; NPHP2
External IDs OMIM243305 MGI1335082 HomoloGene7786 GeneCards: INVS Gene
RNA expression pattern
PBB GE INVS 210114 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 27130 16348
Ensembl ENSG00000119509 ENSMUSG00000028344
UniProt Q9Y283 O89019
RefSeq (mRNA) NM_014425 NM_001281977
RefSeq (protein) NP_055240 NP_001268906
Location (UCSC) Chr 9:
102.86 – 103.06 Mb
Chr 4:
48.28 – 48.43 Mb
PubMed search [1] [2]

Inversin is a protein that in humans is encoded by the INVS gene.[1][2]

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.[2]

Interactions[edit]

INVS has been shown to interact with NPHP1.[1]

References[edit]

  1. ^ a b Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (Aug 2003). "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination". Nat Genet 34 (4): 413–20. doi:10.1038/ng1217. PMID 12872123. 
  2. ^ a b "Entrez Gene: INVS inversin". 

Further reading[edit]