INVS

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INVS
Identifiers
Aliases INVS, INV, NPH2, NPHP2, inversin
External IDs MGI: 1335082 HomoloGene: 7786 GeneCards: INVS
Genetically Related Diseases
pre-eclampsia[1]
RNA expression pattern
PBB GE INVS 210114 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Inversin is a protein that in humans is encoded by the INVS gene.[4][5]

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.[5]

Interactions[edit]

INVS has been shown to interact with NPHP1.[4]

References[edit]

  1. ^ "Diseases that are genetically associated with INVS view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: INVS inversin". 

Further reading[edit]