INF2

Inverted formin, FH2 and WH2 domain containing
Identifiers
Symbols INF2; C14orf151; C14orf173; DKFZp762A0214; FLJ22056; FSGS5; MGC13251; pp9484
External IDs OMIM610982 MGI1917685 HomoloGene82406 GeneCards: INF2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 64423 70435
Ensembl ENSG00000203485 ENSMUSG00000037679
UniProt Q27J81 Q0GNC1
RefSeq (mRNA) NM_001031714.3 NM_198411.2
RefSeq (protein) NP_001026884.3 NP_940803.2
Location (UCSC) Chr 14:
105.16 – 105.19 Mb
Chr 12:
113.83 – 113.85 Mb
PubMed search [1] [2]

Inverted formin-2 is a protein that in humans is encoded by the INF2 gene.[1][2]

Clinical significance

It can be associated with Focal segmental glomerulosclerosis.[3]

References

  1. ^ Chhabra ES, Higgs HN (Sep 2006). "INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization". J Biol Chem 281 (36): 26754–67. doi:10.1074/jbc.M604666200. PMID 16818491. 
  2. ^ "Entrez Gene: C14orf173 chromosome 14 open reading frame 173". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64423. 
  3. ^ Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR. (Jan 2010). "Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis". Nature Genetics 42 (1): 72–6. doi:10.1038/ng.505. PMC 2980844. PMID 20023659. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2980844. 

Further reading