|
Gene id |
59341 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TRPV4 Gene UCSC Ensembl |
|
Aliases |
BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC |
|
Gene name |
transient receptor potential cation channel subfamily V member 4 |
|
Alternate names |
transient receptor potential cation channel subfamily V member 4, OSM9-like transient receptor potential channel 4, osm-9-like TRP channel 4, osmosensitive transient receptor potential channel 4, transient receptor potential protein 12, vanilloid receptor-like, |
|
Gene location |
12q24.11 (109833406: 109783086) Exons: 19 NC_000002.12
|
|
Gene summary(Entrez) |
This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought
|
|
OMIM |
605427 |
|
| Pathway id | Pathway name |
|---|
| hsa04218 | Cellular senescence | | hsa04750 | Inflammatory mediator regulation of TRP channels | | hsa05418 | Fluid shear stress and atherosclerosis | | hsa04750 | Inflammatory mediator regulation of TRP channels | | hsa04218 | Cellular senescence | | hsa05418 | Fluid shear stress and atherosclerosis | |
|
| Associated diseases |
References |
| Distal hereditary motor neuropathies | KEGG: H00856 |
| Asthma | GAD: 20639579 |
| Hyponatremia | GAD: 19666518 |
| Osteoporosis | GAD: 19666518 |
| Charcot-Marie-Tooth disease | GAD: H00264 |
| Scapuloperoneal spinal muscular atrophy | KEGG: H00524 |
| Sperm hyperactivation | MIK: 29963982 |
| Important for sperm motility | MIK: 27003252 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19279160 |
| Familial digital arthropathy-brachydactyly | GAD: H02062 |
| Brachyolmia | KEGG: H00522 |
| Parastremmatic dwarfism | KEGG: H02183 |
| Metatropic dysplasia | KEGG: H02184 |
| Spondylometaphyseal dysplasia | KEGG: H02185 |
| Cryptorchidism | MIK: 28606200 |
| Important for sperm motility, Male infertility | MIK: 27003252 |
| Sperm hyperactivation | MIK: 29963982 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27003252 |
Important
for sperm
motility,
Male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
| 29963982 |
Sperm hype
ractivatio
n
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|