SPEF2
Function
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 (PubMed:31048344, PubMed:31151990, PubMed:31278745). Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity).
Involvement in disease
Spermatogenic failure 43
SPGF43
An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cell projection
- Cilium
- Flagellum
- Cytoplasm
- Golgi apparatus
- Shows dynamic localization in developing spermatozoa. Localizes to the manchette in step 10-12 elongating spermatids. Detected in the basal body and neck area of step 13-14 spermatids. Localizes to the midpiece of the sperm tail in step 15-16 spermatids. During the epididymal transport of spermatozoa, expression in the sperm tail reduces and becomes concentrated at the distal part of the midpiece. Detected in the Golgi apparatus of late spermatocytes and round spermatids. Detected in the cytoplasm of Sertoli cells.
Alternative names
KIAA1770, KPL2, SPEF2, Sperm flagellar protein 2, Protein KPL2