DISEASES

Disease-gene associations mined from literature

Literature associating RCC2 and spermatogenic failure 5

RCC2 [ENSP00000364585]

Protein RCC2; Multifunctional protein that may effect its functions by regulating the activity of small GTPases, such as RAC1 and RALA . Required for normal progress through the cell cycle, both during interphase and during mitosis (PubMed:23388455, PubMed:12919680, PubMed:26158537). Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles (PubMed:12919680, PubMed:26158537). Required for normal organization of the microtubule cytoskeleton in interphase cells . Functions as guanine nucleotide exchange factor (GEF) for RALA . Interferes with the activation of RAC1 by guanine nucleotide exchange factors . Prevents accumulation of active, GTP-bound RAC1, and suppresses RAC1-mediated reorganization of the actin cytoskeleton and formation of membrane protrusions (PubMed:25074804, PubMed:28869598). Required for normal cellular responses to contacts with the extracellular matrix of adjacent cells, and for directional cell migration in response to a fibronectin gradient (in vitro) . ECO:0000269|PubMed:23388455, ECO:0000269|PubMed:25074804,

Synonyms:  RCC2,  RCC2p,  hRCC2,  A0A024RAC5,  Q9P258 ...

Linkouts:  STRING  Pharos  UniProt