• Gene id: 166378

Gene Summary

• Gene Symbol: SPATA5   Gene   UCSC   Ensembl
• Aliases: AFG2, EHLMRS, SPAF
• Gene name: spermatogenesis associated 5
• Alternate names: ATPase family protein 2 homolog, ATPase family gene 2 homolog, spermatogenesis associated factor SPAF, spermatogenesis-associated factor protein, spermatogenesis-associated protein 5,
• Gene location: 4q28.1 (122923069: 123319432)     Exons: 22     NC_000083.6
• Gene summary(Entrez): This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replicati
• OMIM: 613940

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Symptomatic generalized epilepsies	KEGG: H00577
Associated with spermatogenesis	MIK: 30358834
Spermatogenic defects	MIK: 30358834
Male infertility	MIK: 30358834
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30358834	Associated with spermatogenesis, Male infertility			64 (38 oligo-/oligoastheno-zoospermic infertile patients, 26 normozoospermic fertile men)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray