• Gene id: 51542

Gene Summary

• Gene Symbol: VPS54   Gene   UCSC   Ensembl
• Aliases: HCC8, PPP1R164, SLP-8p, VPS54L, WR, hVps54L
• Gene name: VPS54 subunit of GARP complex
• Alternate names: vacuolar protein sorting-associated protein 54, VPS54, GARP complex subunit, hepatocellular carcinoma protein 8, protein phosphatase 1, regulatory subunit 164, tumor antigen HOM-HCC-8, tumor antigen SLP-8p, vacuolar protein sorting 54 homolog,
• Gene location: 2p15-p14 (64019427: 63892148)     Exons: 25     NC_000002.12
• Gene summary(Entrez): This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a c
• OMIM: 614633

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis (ALS)	GAD: 18574757
Globozoospermia	MIK: 24115398
Defective spermatogenesis	MIK: 16244655
Asthenoozoospermia	MIK: 32167074
Cryptorchidism	MIK: 28606200
Defective speramtogenesis	MIK: 16244655
Globozoospermia	MIK: 24115398
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16244655	Defective speramtogenesis				Male infertility
24115398	Globozoospermia	L967Q			Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray