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- Table of Contents
Facts about Inverted formin-2.
.
Human | |
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Gene Name: | INF2 |
Uniprot: | Q27J81 |
Entrez: | 64423 |
Belongs to: |
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formin homology family |
C14orf151; C14orf173DKFZp762A0214; chromosome 14 open reading frame 151; chromosome 14 open reading frame 173; FLJ22056; FSGS5; HBEAG-binding protein 2 binding protein C; HBEBP2-binding protein C; inverted formin, FH2 and WH2 domain containing; inverted formin-2; MGC13251; pp9484
Mass (kDA):
135.624 kDA
Human | |
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Location: | 14q32.33 |
Sequence: | 14; NC_000014.9 (104689606..104722535) |
Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells.
Cytoplasm, perinuclear region.
PMID: 20023659 by Brown E.J., et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID: 21258034 by Boyer O., et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.