SPEF2

SPEF2 (Sperm Flagellar 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein dimerization activity.

Full Name

Sperm Flagellar 2

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:31278745, PubMed:31151990, PubMed:31048344).
Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity).

Biological Process

Biological Process brain morphogenesisISS:UniProtKB
Biological Process epithelial cilium movement involved in extracellular fluid movementISS:UniProtKB
Biological Process respiratory system developmentISS:UniProtKB
Biological Process skeletal system morphogenesisISS:UniProtKB
Biological Process sperm axoneme assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process spermatogenesisISS:UniProtKB

Cellular Location

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.

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.