• Gene id: 10961

Gene Summary

• Gene Symbol: ERP29   Gene   UCSC   Ensembl
• Aliases: C12orf8, ERp28, ERp31, HEL-S-107, PDI-DB, PDIA9
• Gene name: endoplasmic reticulum protein 29
• Alternate names: endoplasmic reticulum resident protein 29, endoplasmic reticulum lumenal protein ERp28, endoplasmic reticulum resident protein 28, endoplasmic reticulum resident protein 31, epididymis secretory protein Li 107, protein disulfide isomerase family A, member 9,
• Gene location: 12q24.13 (112013339: 112023448)     Exons: 3     NC_000020.11
• Gene summary(Entrez): This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a d
• OMIM: 602287

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Involved in sperm fertilization by facilitating sperm-oocyte membrane fusion	MIK: 20132541
May play a vital role in sperm maturation during the epididymal transit, particularly, in the sperm/organelle membrane	MIK: 17379652
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Involved in sperm fertilization by facilitating sperm-oocyte membrane fusion	MIK: 20132541
May play a vital role in sperm maturation during the epididymal transit, particularly, in the sperm/organelle membrane	MIK: 17379652

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20132541	Involved in sperm fertilization by facilitating sperm-oocyte membrane fusion				Male infertility
17379652	May play a vital role in sperm maturation during the epididymal transit, particularly, in the sperm/organelle membrane				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray