SPEF2

Chr 5p13.2

sperm flagellar and cilia associated 2

Aliases:: KPL2, FLJ23577, CT122
MANE:: ENST00000356031.8

OMIM: 610172 ↗NCBI: 79925 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPEF2 · Q9C093

v62025-08-01

Predicted Aligned Error matrix for SPEF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.5/ 100

Confident

1,822 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)51%
Low(50–70)12%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spermatogenic failure 43
0.70
primary ciliary dyskinesia
0.55
non-syndromic male infertility due to sperm motility disorder
0.39
methicillin-resistant staphylococcus aureus infectious disease
0.31
cervical carcinoma
0.30
COVID-19
0.30
severe acute respiratory syndrome
0.30
allergic disease
0.28
respiratory system disorder
0.28
Abnormal thrombosis
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sperm flagella and cilia-associated 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 (PubMed:31048344, PubMed:31151990, PubMed:31278745). Plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity). Required for normal beat frequency of tracheal epithelial cilia and oviduct cilia (By similarity)