|
Gene id |
7415 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
VCP Gene UCSC Ensembl |
|
Aliases |
CDC48, TERA, p97 |
|
Gene name |
valosin containing protein |
|
Alternate names |
transitional endoplasmic reticulum ATPase, 15S Mg(2+)-ATPase p97 subunit, TER ATPase, |
|
Gene location |
9p13.3 (35072667: 35056063) Exons: 17 NC_000017.11
|
|
Gene summary(Entrez) |
This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. Th
|
|
OMIM |
601023 |
Protein Summary
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|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
|
|
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| Associated diseases |
References |
| Cancer (breast) | GAD: 20508983 |
| Charcot-Marie-Tooth disease | KEGG: H00264 |
| Frontotemporal lobar degeneration | KEGG: H00078 |
| Amyotrophic lateral sclerosis (ALS) | KEGG: H00058 |
| Dementia | GAD: 17618707 |
| Asthenozoospermia | MIK: 25926605 |
| Spermatogenesis defects | MIK: 22051847 |
| Decreased sperm quality | MIK: 25926605 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | KEGG: H02031 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Decreased sperm quality | MIK: 25926605 |
| Asthenozoospermia | MIK: 25926605 |
| Spermatogenic defects | MIK: 22051847 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25926605 |
Decreased
sperm qual
ity, Asthe
nozoosperm
ia
|
|
|
60 (30 men with
normal spermio
grams, 30 men w
ith asthenozoos
permia)
|
Male infertility |
|
Show abstract |
| 22051847 |
Role in sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|