Jump to content

INVS

From Wikipedia, the free encyclopedia
INVS
Identifiers
AliasesINVS, INV, NPH2, NPHP2, inversin
External IDsOMIM: 243305; MGI: 1335082; HomoloGene: 7786; GeneCards: INVS; OMA:INVS - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 4: 48.28 – 48.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119509Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028344Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. PMC 3732175. PMID 12872123.
  6. ^ a b "Entrez Gene: INVS inversin".

Further reading

[edit]