Inverted Formin 2

Alternative Names

  • INF2
  • Formin, Inverted, 2
  • Chromosome 14 Open Reading Frame 173
  • C14orf173
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OMIM Number

610982

NCBI Gene ID

64423

Uniprot ID

Q27J81

Length

32,918 bases

No. of Exons

23

No. of isoforms

3

Protein Name

Inverted formin-2

Molecular Mass

135624 Da

Amino Acid Count

1249

Genomic Location

chr14:104,689,618-104,722,535

Gene Map Locus
14q32.33

Description

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022489.4:c.312C>GLebanonNC_000014.9:g.104701677C>GPathogenicLikely PathogenicCharcot-Marie-Tooth Disease, Dominant Intermediate ENG_027684.2:g.17061C>G; NM_022489.4:c.312C>G; NP_071934.3:p.Cys104Trp38790703630866
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