FSIP2
fibrous sheath interacting protein 2
- Ensembl:
- ENSG00000188738
- UniProt:
- Q5CZC0
- OMIM:
- 615796
- Synonyms:
- FLJ34780
Cilia effects upon perturbation of FSIP2
- Loss-of-function effect:
- Shorter (sperm flagella, MMAF)
Ciliogenesis screen results (3 screens)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.86) PMID:41160700
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
Function
Major structural protein of the fibrous sheath (FS) shown to bind to AKAP4, required for FS assembly. Regulaties PKA anchoring to AKAP4. Involved in the control of sperm flagellum elasticity and sig ling pathways that regulate sperm motility. Mutations in FSIP2 are a recurrent cause of multiple morphological abnormalities of the sperm flagella. All spermatozoa from patients FSIP2_3 and FSIP2_4 have shorter flagella than controls. (30137358)
Model organism evidence
(#)Contributed equally PURPOSE: This study identified novel variants of the FSIP2 and SPEF2 genes in multiple morphological abnormalities of the sperm flagella (MMAF) patients and to investigate the potential effect of variations on male infertility and assisted reproductive outcomes.
PMIDs: 39753944
BACKGROUND: Loss-of-function mutations in FSIP2 result in multiple morphological abnormalities of the flagella in humans and mice.
PMIDs: 35654582