DISEASES

Disease-gene associations mined from literature

Literature on SPEF2

SPEF2 [ENSP00000348314]

Sperm flagellar protein 2; Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation.

Synonyms:  SPEF2,  SPEF2p,  hSPEF2,  A0A140VKD0,  A0A1B0GWC1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM