Disease-gene associations mined from literature

Literature associating MCF2 and juvenile spinal muscular atrophy

MCF2 [ENSP00000430276]

MCF.2 cell line derived transforming sequence; Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42; Belongs to the MCF2 family.

Synonyms:  MCF2,  MCF2p,  hMCF2,  MCF2-001,  MCF2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM