Aliases for TRPV4 Gene
Aliases for TRPV4 Gene
- Transient Receptor Potential Cation Channel Subfamily V Member 4 2 3 5
- Osmosensitive Transient Receptor Potential Channel 4 2 3
- Transient Receptor Potential Protein 12 3 4
- Vanilloid Receptor-Like Channel 2 3 4
- Osm-9-Like TRP Channel 4 3 4
- OTRPC4 3 4
- TRP12 3 4
- VROAC 3 4
- VRL2 3 4
- Transient Receptor Potential Cation Channel, Subfamily V, Member 4 2
- Vanilloid Receptor-Related Osmotically Activated Channel 3
- Vanilloid Receptor-Related Osmotically-Activated Channel 4
External Ids for TRPV4 Gene
- HGNC: 18083
- Entrez Gene: 59341
- Ensembl: ENSG00000111199
- OMIM: 605427
- UniProtKB: Q9HBA0
Previous GeneCards Identifiers for TRPV4 Gene
- GC12M109279
- GC12M110059
- GC12M108683
- GC12M110220
- GC12M107238
Summaries for TRPV4 Gene
-
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 to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
GeneCards Summary for TRPV4 Gene
TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) is a Protein Coding gene. Diseases associated with TRPV4 include Spondylometaphyseal Dysplasia, Kozlowski Type and Scapuloperoneal Spinal Muscular Atrophy. Among its related pathways are CREB Pathway and Development Endothelin-1/EDNRA signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is TRPV1.
UniProtKB/Swiss-Prot for TRPV4 Gene
-
Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040). Also activated by heat, low pH, citrate and phorbol esters (PubMed:18826956, PubMed:18695040). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260).
-
Vanilloids are a group of compounds, structurally related to capsaicin, thought to exert their actions via vanilloid receptors. The vanilloid receptor family (TRPV) is a member of the transient receptor potential (TRP) superfamily of ion channels, and have six members (TRPV1-6).
Additional gene information for TRPV4 Gene
- Monarch Initiative
- Search for TRPV4 at DataMed
- Search for TRPV4 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPV4 Gene
Genomics for TRPV4 Gene
GeneHancer (GH) Regulatory Elements for TRPV4 Gene
Promoters and enhancers for TRPV4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TRPV4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TRPV4 gene promoter:
Regulatory Element Products
Genomic Locations for TRPV4 Gene
Genomic Locations for TRPV4 Gene
- chr12:109,783,085-109,833,407
- (GRCh38/hg38)
- Size:
- 50,323 bases
- Orientation:
- Minus strand
- chr12:110,220,890-110,271,212
- (GRCh37/hg19)
Genomic View for TRPV4 Gene
Genes around TRPV4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.11 by Ensembl
- 12q24.11 by Entrez Gene
- 12q24.11 by HGNC
TRPV4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TRPV4 Gene
Proteins for TRPV4 Gene
-
Protein details for TRPV4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HBA0-TRPV4_HUMAN
- Recommended name:
- Transient receptor potential cation channel subfamily V member 4
- Protein Accession:
- Q9HBA0
- B7ZKQ6
- Q17R79
- Q2Y122
- Q2Y123
- Q2Y124
- Q86YZ6
- Q8NDY7
- Q8NG64
- Q96Q92
- Q96RS7
- Q9HBC0
Protein attributes for TRPV4 Gene
- Size:
- 871 amino acids
- Molecular mass:
- 98281 Da
- Quaternary structure:
-
- Homotetramer (Probable). Self-associates in a isoform-specific manner (PubMed:16293632). Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can oligomerize (PubMed:16293632). Interacts with calmodulin (PubMed:12724311). Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES (By similarity). Interacts with CTNNB1 (By similarity). The TRPV4 and CTNNB1 complex can interact with CDH1 (By similarity). Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1 (PubMed:22328087). Interacts with ITPR3 (PubMed:18826956). Interacts with AQP5; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity (By similarity). Interacts with ANO1 (By similarity). Interacts (via C-terminus) with PKD2 (via C-terminus) (PubMed:18695040).
Protein Expression for TRPV4 Gene
Post-translational modifications for TRPV4 Gene
No Post-translational modifications
Other Protein References for TRPV4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TRPV4
-
Abcam antibodies for TRPV4
- Invitrogen Antibodies for TRPV4
- GeneTex TRPV4 antibody for TRPV4
-
Custom Antibody ServicesProSci Antibodies for TRPV4
Protein Products
-
OriGene Purified Proteins for TRPV4
- Search Origene for MassSpec and Protein Over-expression Lysates for TRPV4
- Origene Custom Protein Services for TRPV4
- Novus Biologicals lysates for TRPV4
- Search GeneTex for Proteins for TRPV4
-
Abcam proteins for TRPV4
Assay Products
No data available for DME Specific Peptides for TRPV4 Gene
Domains & Families for TRPV4 Gene
Gene Families for TRPV4 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Voltage-gated ion channels
Protein Domains for TRPV4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TRPV4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9HBA0UniProtKB/Swiss-Prot:
TRPV4_HUMAN :- Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
- Family:
-
- Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
Function for TRPV4 Gene
Molecular function for TRPV4 Gene
- UniProtKB/Swiss-Prot Function:
- Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040). Also activated by heat, low pH, citrate and phorbol esters (PubMed:18826956, PubMed:18695040). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260).
Phenotypes From GWAS Catalog for TRPV4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003779 | actin binding | ISS | -- |
| GO:0005034 | osmosensor activity | IEA | -- |
| GO:0005080 | protein kinase C binding | ISS | -- |
| GO:0005216 | ion channel activity | IEA | -- |
Phenotypes for TRPV4 Gene
- MGI mutant phenotypes for TRPV4:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for TRPV4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TRPV4
-
- Search ViGene Biosciences for TRPV4
CRISPR Products
-
OriGene CRISPR knockouts for TRPV4
- genomics-online: gRNA clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
- Applied Biological Materials CRISPR for TRPV4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRPV4
- GenScript: Design CRISPR guide RNA sequences for TRPV4
miRNA for TRPV4 Gene
- miRTarBase miRNAs that target TRPV4
miRNA Products
- Search ViGene Biosciences for TRPV4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TRPV4
- Browse OriGene Inhibitory RNA Products For TRPV4
- genomics-online: shRNA clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for TRPV4
- RG220097
- RC220097L2
- RC220097L1
- RC220097
- RG220160
- RC220160L2
- RC220160L1
- RC220160
- RG230483
- RC230483L2
- RC230483L1
- RC230483
- RG230525
- RC230525L2
- RC230525L1
- RC230525
- RG230519
- RC230519L2
- RC230519L1
- RC230519
- RC220097L2V
- RC220097L1V
- RC220160L2V
- RC220160L1V
- RC230483L2V
- RC230483L1V
- RC230525L2V
- RC230525L1V
- RC230519L2V
- RC230519L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TRPV4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TRPV4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
- orf clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
- Applied Biological Materials Clones for TRPV4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TRPV4
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPV4 Gene
Localization for TRPV4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TRPV4 Gene
- Apical cell membrane; Multi-pass membrane protein. Cell junction, adherens junction. Cell projection, cilium. Note=Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum. {ECO:0000269 PubMed:16293632, ECO:0000269 PubMed:20037587, ECO:0000269 PubMed:20037588}.
- Isoform 1: Cell membrane.
- Isoform 5: Cell membrane.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 4 |
| extracellular | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005881 | colocalizes_with cytoplasmic microtubule | ISS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IBA | -- |
| GO:0005912 | adherens junction | ISS | -- |
| GO:0005925 | focal adhesion | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPV4 Gene
Pathways & Interactions for TRPV4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ion channel transport | ||
| 2 | Cellular senescence (KEGG) | ||
| 3 | Fluid shear stress and atherosclerosis | ||
| 4 | Development Endothelin-1/EDNRA signaling | ||
| 5 | CREB Pathway | ||
Pathways by source for TRPV4 Gene
4 Reactome pathways for TRPV4 Gene
3 KEGG pathways for TRPV4 Gene
1 Qiagen pathway for TRPV4 Gene
Interacting Proteins for TRPV4 Gene
Selected Interacting proteins:
Q9HBA0-TRPV4_HUMAN
ENSP00000261740
for TRPV4 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0002024 | diet induced thermogenesis | IEA | -- |
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | NAS | 11025659 |
No data available for SIGNOR curated interactions for TRPV4 Gene
Drugs & Compounds for TRPV4 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 4alpha-PDD |
|
Activator |
|
|
||
| 4alpha-PDH |
|
Activator |
|
|
||
| bisandrographolide |
|
Activator |
|
|
||
| (E)-Capsaicin |
|
404-86-4 |
|
|
(5) Tocris Compounds for TRPV4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (E)-Capsaicin | Prototypic vanilloid receptor agonist | 404-86-4 |
| Capsazepine | Vanilloid receptor antagonist; also activator of ENaCdelta | 138977-28-3 |
| Olvanil | Potent vanilloid receptor agonist | 58493-49-5 |
| Resiniferatoxin | Potent vanilloid receptor agonist | 57444-62-9 |
| STEARDA | Endogenous lipid, active in vivo. Enhances effects of endovanilloids at TRPV1 receptors | 105955-10-0 |
(3) ApexBio Compounds for TRPV4 Gene
Transcripts for TRPV4 Gene
mRNA/cDNA for TRPV4 Gene
- (14) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (55) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TRPV4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TRPV4
- genomics-online: gRNA clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
- Applied Biological Materials CRISPR for TRPV4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRPV4
- GenScript: Design CRISPR guide RNA sequences for TRPV4
miRNA Products
- Search ViGene Biosciences for TRPV4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TRPV4
- Browse OriGene Inhibitory RNA Products For TRPV4
- genomics-online: shRNA clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for TRPV4
- RG220097
- RC220097L2
- RC220097L1
- RC220097
- RG220160
- RC220160L2
- RC220160L1
- RC220160
- RG230483
- RC230483L2
- RC230483L1
- RC230483
- RG230525
- RC230525L2
- RC230525L1
- RC230525
- RG230519
- RC230519L2
- RC230519L1
- RC230519
- RC220097L2V
- RC220097L1V
- RC220160L2V
- RC220160L1V
- RC230483L2V
- RC230483L1V
- RC230525L2V
- RC230525L1V
- RC230519L2V
- RC230519L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TRPV4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TRPV4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
- orf clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
- Applied Biological Materials Clones for TRPV4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - |
Expression for TRPV4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Mesenchymal Condensate Cells Zeugopod
- Zeugopod Growth Plate
- HyStem+BMP4-induced 4D20.8 cells
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Mesenchymal Condensate Cells Zeugopod
- Meckels Cartilage
- HyStem+BMP4-induced 4D20.8 cells
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
- Adult Endothelial Cells Blood Brain Barrier
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
-
Epithelial Cells
- Mature Choroid Plexus Cells Choroid Plexus
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for TRPV4 Gene
This gene is overexpressed in Minor Salivary Gland (x8.1), Kidney - Cortex (x7.0), and Esophagus - Mucosa (x5.1).
This gene is overexpressed in Placenta (66.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRPV4 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TRPV4 Gene:
TRPV4SOURCE GeneReport for Unigene cluster for TRPV4 Gene:
Hs.506713mRNA Expression by UniProt/SwissProt for TRPV4 Gene:
Q9HBA0-TRPV4_HUMAN
Tissue specificity:
Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level).
Evidence on tissue expression from TISSUES for TRPV4 Gene
- Kidney(4.5)
- Intestine(4.3)
- Nervous system(2.6)
- Heart(2.2)
- Muscle(2.2)
- Lung(2)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPV4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- epiglottis
- eye
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- vocal cord
Thorax:
- bronchus
- chest wall
- clavicle
- diaphragm
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Pelvis:
- pelvis
- prostate
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TRPV4
-
OriGene qPCR primer pairs and template standards for TRPV4
- genomics-online: primer clones - Search results for 111 available TRPV4 gene related products
- Overview of 111 available TRPV4 gene related products
-
Recommended
Orthologs for TRPV4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TRPV4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TRPV4 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TRPV4 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Trpv4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Trpv4 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TRPV4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TRPV4 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | trpv4 33 |
|
||
| Str.16318 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | trpv4 33 34 |
|
||
| wufp52e02 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | nan 34 |
|
ManyToMany | |
| iav 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | osm-9 35 34 |
|
||
| ocr-4 34 |
|
ManyToMany | |||
| ocr-3 34 |
|
ManyToMany | |||
| ocr-1 34 |
|
ManyToMany | |||
| ocr-2 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany |
- Species where no ortholog for TRPV4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for TRPV4 Gene
Variants for TRPV4 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV4 Gene
- TRPV4_HUMAN-Q9HBA0
- Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L.
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1051494811 | uncertain-significance, Charcot-Marie-Tooth disease type 2C | 109,794,021(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1057520305 | pathogenic, Avascular necrosis of femoral head, primary, 2 | 109,783,753(-) | GCGGG/G | coding_sequence_variant, frameshift, genic_downstream_transcript_variant | |
| rs1060504550 | likely-benign, Charcot-Marie-Tooth disease type 2C | 109,794,371(-) | G/C | coding_sequence_variant, synonymous_variant | |
| rs10850750 | benign, likely-benign, not specified | 109,793,912(-) | C/G/T | intron_variant | |
| rs114101785 | benign, conflicting-interpretations-of-pathogenicity, Charcot-Marie-Tooth disease type 2C, not specified | 109,808,459(-) | C/A/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1110896 | OTHER | inversion | 24896259 |
Residual Variation Intolerance Score:
12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.37;
76.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TRPV4 Gene
Disorders for TRPV4 Gene
(39) MalaCards diseases for TRPV4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondylometaphyseal dysplasia, kozlowski type |
|
|
| scapuloperoneal spinal muscular atrophy |
|
|
| digital arthropathy-brachydactyly, familial |
|
|
| parastremmatic dwarfism |
|
|
| brachyolmia type 3 |
|
Search TRPV4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TRPV4_HUMAN- Avascular necrosis of the femoral head, primary 2 (ANFH2) [MIM:617383]: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. {ECO:0000269 PubMed:27330106}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Brachyolmia 3 (BCYM3) [MIM:113500]: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae. {ECO:0000269 PubMed:18587396}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:20037586, ECO:0000269 PubMed:20037587, ECO:0000269 PubMed:20037588, ECO:0000269 PubMed:21115951, ECO:0000269 PubMed:21288981}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]: A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. {ECO:0000269 PubMed:21964574}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Metatropic dysplasia (MTD) [MIM:156530]: A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones. {ECO:0000269 PubMed:19232556, ECO:0000269 PubMed:20425821, ECO:0000269 PubMed:20577006, ECO:0000269 PubMed:26249260, ECO:0000269 Ref.6}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Neuronopathy, distal hereditary motor, 8 (HMN8) [MIM:600175]: A clinically variable, neuromuscular disorder characterized by congenital lower motor neuron disorder restricted to the lower part of the body. Clinical manifestations include non-progressive muscular atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal. {ECO:0000269 PubMed:20037588, ECO:0000269 PubMed:22526352}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Parastremmatic dwarfism (PSTD) [MIM:168400]: A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. {ECO:0000269 PubMed:20503319}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy. {ECO:0000269 PubMed:20037587}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM:184095]: A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal. {ECO:0000269 PubMed:20503319}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles. {ECO:0000269 PubMed:19232556, ECO:0000269 PubMed:20577006}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TRPV4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TRPV4 Gene
Publications for TRPV4 Gene
- Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (PMID: 20037587) Deng HX … Siddique T (Nature genetics 2010) 2 3 4 22 58
- A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. (PMID: 19666518) Tian W … Cohen DM (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 44 58
- Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. (PMID: 11081638) Liedtke W … Heller S (Cell 2000) 2 3 4 22 58
- OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. (PMID: 11025659) Strotmann R … Plant TD (Nature cell biology 2000) 2 3 4 22 58
- Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. (PMID: 20503319) Nishimura G … Superti-Furga A (American journal of medical genetics. Part A 2010) 3 4 22 58
Products for TRPV4 Gene
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Sources for TRPV4 Gene
- (1) GeneCards
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