SPEF2

sperm flagellar and cilia associated 2

2 disorders 1 untyped 1 causative 5p13.2 gene with protein product

HGNC:26293 Monarch NCBI Gene 79925 ENSG00000152582 UniProt Q9C093 OMIM 610172

Aliases: KPL2, FLJ23577, CT122.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Spermatogenic failure 43	causative germline loss of function	mechanism: SPEF2 Loss of Function
Primary_Ciliary_Dyskinesia	untyped Pathogenic Variants	mechanism: Central Pair Apparatus Defect; Ciliary Dysfunction dataset: geo:GSE254100

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
primary ciliary dyskinesia MONDO:0016575	AR	Definitive 2025-01-09	Primary_Ciliary_Dyskinesia untyped

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Primary_Ciliary_Dyskinesia

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.