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GeneQ18045670· pop 6· linked from 4 articles

Also known as C14orf151, C14orf173, CMTDIE, FSGS5, pp9484, inverted formin, FH2 and WH2 domain containing, inverted formin 2

Inverted formin-2 is a protein that in humans is encoded by the INF2 gene. It belongs to the protein family called the formins. It has two splice isoforms, CAAX which localizes to the endoplasmic reticulum and non-CAAX which localizes to focal adhesions and the cytoplasm with enrichment at the Golgi. INF2 plays a role in mitochondrial fission and dorsal stress fiber formation. INF2 accelerates actin nucleation and elongation by interacting with barbed ends (fast-growing ends) of actin filaments, but also accelerates disassembly of actin through encircling and severing filaments.

Gene data

INF2
Name
inverted formin 2
Type
protein-coding
Position
104,681,146–104,722,535 (+)
Aliases
C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
RefSeq RNA
NM_001031714.4, NM_001426862.1, NM_001426863.1, NM_001426864.1, NM_001426865.1
RefSeq protein
NP_001026884.3, NP_001413791.1, NP_001413792.1, NP_001413793.1, NP_001413794.1

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010].

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Wikidata facts

Show 5 more facts
HomoloGene ID
82406
genomic start
104681146
genomic end
105185942
cytogenetic location
14q32.33
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Article

3 sections
Contents
  • Clinical significance
  • References
  • Further reading

Inverted formin-2 is a protein that in humans is encoded by the INF2 gene. It belongs to the protein family called the formins. It has two splice isoforms, CAAX which localizes to the endoplasmic reticulum and non-CAAX which localizes to focal adhesions and the cytoplasm with enrichment at the Golgi. INF2 plays a role in mitochondrial fission and dorsal stress fiber formation. INF2 accelerates actin nucleation and elongation by interacting with barbed ends (fast-growing ends) of actin filaments, but also accelerates disassembly of actin through encircling and severing filaments.

== Clinical significance ==

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