Aliases for INF2 Gene
External Ids for INF2 Gene
Previous HGNC Symbols for INF2 Gene
Previous GeneCards Identifiers for INF2 Gene
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]
GeneCards Summary for INF2 Gene
INF2 (Inverted Formin, FH2 And WH2 Domain Containing) is a Protein Coding gene. Diseases associated with INF2 include Charcot-Marie-Tooth Disease, Dominant Intermediate E and Focal Segmental Glomerulosclerosis 5. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is DIAPH1.
UniProtKB/Swiss-Prot for INF2 Gene
Severs actin filaments and accelerates their polymerization and depolymerization.