BC006173
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,954 Da
NCBI Official Full Name
Homo sapiens inverted formin, FH2 and WH2 domain containing, mRNA
NCBI Official Synonym Full Names
inverted formin, FH2 and WH2 domain containing
NCBI Official Synonym Symbols
FSGS5; CMTDIE; pp9484; C14orf151; C14orf173 [Similar Products]
NCBI Protein Information
inverted formin-2
UniProt Protein Name
Inverted formin-2
UniProt Synonym Protein Names
HBEBP2-binding protein C
UniProt Synonym Gene Names
UniProt Entry Name
INF2_HUMAN
NCBI Summary for INF2
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]
UniProt Comments for INF2
INF2: Severs actin filaments and accelerates their polymerization and depolymerization. Defects in INF2 are the cause of focal segmental glomerulosclerosis type 5 (FSGS5). A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Defects in INF2 are the cause of Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE). A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy. Belongs to the formin homology family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 14q32.33
Cellular Component: perinuclear region of cytoplasm
Disease: Charcot-marie-tooth Disease, Dominant Intermediate E; Focal Segmental Glomerulosclerosis 5
Research Articles on INF2
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Diseases associated with INF2 cdna clone
Organs/Tissues associated with INF2 cdna clone
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