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Q9HBA0

- TRPV4_HUMAN

UniProt

Q9HBA0 - TRPV4_HUMAN

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Protein

Transient receptor potential cation channel subfamily V member 4

Gene

TRPV4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca2+ potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca2+ in synoviocytes. 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-8.3 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei192 – 1921ATP1 Publication
Binding sitei201 – 2011ATP1 Publication
Binding sitei239 – 2391ATP1 Publication
Binding sitei248 – 2481ATP1 Publication

GO - Molecular functioni

  1. actin binding Source: BHF-UCL
  2. actin filament binding Source: BHF-UCL
  3. alpha-tubulin binding Source: BHF-UCL
  4. ATP binding Source: UniProtKB-KW
  5. beta-tubulin binding Source: BHF-UCL
  6. calcium channel activity Source: UniProtKB
  7. calmodulin binding Source: UniProtKB
  8. cation channel activity Source: UniProtKB
  9. microtubule binding Source: BHF-UCL
  10. osmosensor activity Source: Ensembl
  11. protein kinase binding Source: BHF-UCL
  12. protein kinase C binding Source: BHF-UCL
  13. SH2 domain binding Source: BHF-UCL

GO - Biological processi

  1. actin cytoskeleton reorganization Source: BHF-UCL
  2. actin filament organization Source: BHF-UCL
  3. calcium ion import Source: BHF-UCL
  4. calcium ion transmembrane transport Source: Reactome
  5. calcium ion transport Source: UniProtKB
  6. cell-cell junction assembly Source: UniProtKB
  7. cell death Source: UniProtKB-KW
  8. cellular calcium ion homeostasis Source: UniProtKB
  9. cellular hypotonic response Source: BHF-UCL
  10. cellular response to heat Source: UniProtKB
  11. cellular response to osmotic stress Source: UniProtKB
  12. cell volume homeostasis Source: UniProtKB
  13. cortical microtubule organization Source: BHF-UCL
  14. hyperosmotic salinity response Source: Ensembl
  15. ion transmembrane transport Source: Reactome
  16. microtubule polymerization Source: BHF-UCL
  17. negative regulation of neuron projection development Source: BHF-UCL
  18. osmosensory signaling pathway Source: UniProtKB
  19. positive regulation of cytosolic calcium ion concentration Source: UniProtKB
  20. positive regulation of microtubule depolymerization Source: BHF-UCL
  21. regulation of response to osmotic stress Source: Ensembl
  22. response to mechanical stimulus Source: UniProtKB
  23. transmembrane transport Source: Reactome
  24. vasopressin secretion Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

ATP-binding, Calcium, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_169333. TRP channels.
SignaLinkiQ9HBA0.

Names & Taxonomyi

Protein namesi
Recommended name:
Transient receptor potential cation channel subfamily V member 4
Short name:
TrpV4
Alternative name(s):
Osm-9-like TRP channel 4
Short name:
OTRPC4
Transient receptor potential protein 12
Short name:
TRP12
Vanilloid receptor-like channel 2
Vanilloid receptor-like protein 2
Short name:
VRL-2
Vanilloid receptor-related osmotically-activated channel
Short name:
VR-OAC
Gene namesi
Name:TRPV4
Synonyms:VRL2, VROAC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:18083. TRPV4.

Subcellular locationi

Cell membrane By similarity; Multi-pass membrane protein By similarity. Cell junctionadherens junction By similarity
Note: Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 465465CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei466 – 48621HelicalSequence AnalysisAdd
BLAST
Topological domaini487 – 50822ExtracellularSequence AnalysisAdd
BLAST
Transmembranei509 – 52921HelicalSequence AnalysisAdd
BLAST
Topological domaini530 – 55021CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei551 – 57121HelicalSequence AnalysisAdd
BLAST
Topological domaini572 – 5721ExtracellularSequence Analysis
Transmembranei573 – 59321HelicalSequence AnalysisAdd
BLAST
Topological domaini594 – 61623CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei617 – 63721HelicalSequence AnalysisAdd
BLAST
Intramembranei648 – 67831Pore-formingCuratedAdd
BLAST
Transmembranei691 – 71121HelicalSequence AnalysisAdd
BLAST
Topological domaini712 – 871160CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. adherens junction Source: UniProtKB
  2. cell surface Source: Ensembl
  3. cilium Source: Ensembl
  4. cortical actin cytoskeleton Source: BHF-UCL
  5. cytoplasmic microtubule Source: Ensembl
  6. cytoplasmic vesicle Source: Ensembl
  7. filopodium Source: BHF-UCL
  8. focal adhesion Source: BHF-UCL
  9. growth cone Source: BHF-UCL
  10. integral component of membrane Source: UniProtKB
  11. lamellipodium Source: BHF-UCL
  12. plasma membrane Source: UniProtKB
  13. ruffle membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Brachyolmia 3 (BRAC3) [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 without significant epiphyseal or metaphyseal changes in the long bones. BRAC3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti616 – 6161R → Q in BRAC3; this mutation results in a gain of function and a constitutive activation of the channel. 1 Publication
VAR_054805
Natural varianti620 – 6201V → I in BRAC3; this mutation results in a gain of function and a constitutive activation of the channel. 1 Publication
VAR_054806
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti278 – 2781E → K in SMDK. 1 Publication
VAR_064521
Natural varianti333 – 3364Missing in SMDK.
VAR_067992
Natural varianti333 – 3331D → G in SMDK. 1 Publication
VAR_062332
Natural varianti594 – 5941R → H in SMDK and PSTD. 3 Publications
VAR_062333
Natural varianti596 – 5961L → P in SMDK. 1 Publication
VAR_064527
Natural varianti600 – 6001G → W in SMDK. 1 Publication
VAR_064528
Natural varianti625 – 6251M → I in SMDK. 1 Publication
VAR_064533
Natural varianti709 – 7091L → M in SMDK. 1 Publication
VAR_064534
Natural varianti716 – 7161A → S in SMDK. 1 Publication
VAR_062334
Natural varianti777 – 7771C → Y in SMDK. 1 Publication
VAR_064536
Natural varianti797 – 7971E → K in MTD and SMDK; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 3 Publications
VAR_064537
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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891T → I in MTD; lethal form. 1 Publication
VAR_064517
Natural varianti197 – 1971K → R in MTD; lethal form. 1 Publication
VAR_064519
Natural varianti199 – 1991L → F in MTD. 1 Publication
VAR_064520
Natural varianti295 – 2951T → A in MTD. 1 Publication
VAR_064522
Natural varianti331 – 3311I → F in MTD. 2 Publications
VAR_062331
Natural varianti331 – 3311I → T in MTD. 1 Publication
VAR_064523
Natural varianti342 – 3421V → F in MTD. 1 Publication
VAR_064524
Natural varianti471 – 4711Missing in MTD; lethal form. 2 Publications
VAR_064525
Natural varianti592 – 5921F → L in MTD. 1 Publication
VAR_064526
Natural varianti604 – 6041I → M in MTD; lethal form. 1 Publication
VAR_064530
Natural varianti617 – 6171F → L in MTD. 1 Publication
VAR_064531
Natural varianti618 – 6181L → P in MTD. 2 Publications
VAR_064532
Natural varianti775 – 7751R → K in MTD. 1 Publication
VAR_064535
Natural varianti797 – 7971E → K in MTD and SMDK; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 3 Publications
VAR_064537
Natural varianti799 – 7991P → A in MTD. 1 Publication
VAR_064538
Natural varianti799 – 7991P → L in MTD; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 4 Publications
VAR_062335
Natural varianti799 – 7991P → R in MTD. 1 Publication
VAR_064539
Natural varianti799 – 7991P → S in MTD. 1 Publication
VAR_064540
Distal spinal muscular atrophy, congenital non-progressive (DSMAC) [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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti97 – 971P → R in DSMAC; loss of function mutation. 1 Publication
VAR_067989
Natural varianti232 – 2321R → C in DSMAC and CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 2 Publications
VAR_067990
Natural varianti269 – 2691R → H in DSMAC and CMT2C; increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 3 Publications
VAR_063529
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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti232 – 2321R → C in DSMAC and CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 2 Publications
VAR_067990
Natural varianti269 – 2691R → C in CMT2C. 1 Publication
VAR_063528
Natural varianti269 – 2691R → H in DSMAC and CMT2C; increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 3 Publications
VAR_063529
Natural varianti315 – 3151R → W in CMT2C. 2 Publications
VAR_063541
Natural varianti316 – 3161R → C in CMT2C and SPSMA. 2 Publications
VAR_063530
Natural varianti316 – 3161R → H in CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 1 Publication
VAR_067991
Natural varianti542 – 5421S → Y in CMT2C. 1 Publication
VAR_067993
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti316 – 3161R → C in CMT2C and SPSMA. 2 Publications
VAR_063530
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.1 Publication
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti594 – 5941R → H in SMDK and PSTD. 3 Publications
VAR_062333
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti270 – 2701G → V in FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists. 1 Publication
VAR_068498
Natural varianti271 – 2711R → P in FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists. 1 Publication
VAR_068499
Natural varianti273 – 2731F → L in FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists. 1 Publication
VAR_068500

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi816 – 8216RLRRDR → ELEEDE: Loss of calmodulin binding; when associated with A-828.
Mutagenesisi821 – 8244RWSS → AASA: Loss of calmodulin binding.
Mutagenesisi822 – 8221W → A: Loss of Ca(2+) dependent current potentiation.
Mutagenesisi824 – 8241S → A: Loss of phosphorylation. 1 Publication
Mutagenesisi824 – 8241S → D: Up-regulation of its function. 1 Publication
Mutagenesisi828 – 8281R → A: Loss of calmodulin binding; when associated with 816-ELEEDE-821. 1 Publication

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Dwarfism, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi113500. phenotype.
156530. phenotype.
168400. phenotype.
181405. phenotype.
184095. phenotype.
184252. phenotype.
600175. phenotype.
606071. phenotype.
606835. phenotype.
613508. phenotype.
Orphaneti93304. Autosomal dominant brachyolmia.
99937. Autosomal dominant Charcot-Marie-Tooth disease type 2C.
1216. Autosomal dominant congenital benign spinal muscular atrophy.
85169. Familial digital arthropathy-brachydactyly.
2635. Metatropic dysplasia.
2646. Parastremmatic dwarfism.
263482. Spondyloepiphyseal dysplasia, Maroteaux type.
93314. Spondylometaphyseal dysplasia, Kozlowski type.
PharmGKBiPA38293.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 871871Transient receptor potential cation channel subfamily V member 4PRO_0000215347Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei824 – 8241Phosphoserine; by PKC and PKA1 Publication

Post-translational modificationi

Phosphorylation results in enhancement of its channel function.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9HBA0.
PaxDbiQ9HBA0.
PRIDEiQ9HBA0.

PTM databases

PhosphoSiteiQ9HBA0.

Expressioni

Tissue specificityi

Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level).1 Publication

Gene expression databases

BgeeiQ9HBA0.
ExpressionAtlasiQ9HBA0. baseline and differential.
GenevestigatoriQ9HBA0.

Organism-specific databases

HPAiHPA007150.

Interactioni

Subunit structurei

Homotetramer (Probable). Self-associates in a isoform-specific manner. Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can oligomerize. Interacts with calmodulin. Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES. Interacts with CTNNB1. The TRPV4 and CTNNB1 complex can interact with CDH1. Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1.By similarity3 PublicationsCurated

Protein-protein interaction databases

BioGridi121883. 12 interactions.
DIPiDIP-35702N.
IntActiQ9HBA0. 3 interactions.
MINTiMINT-4535111.

Structurei

Secondary structure

1
871
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi151 – 1599Combined sources
Helixi164 – 1663Combined sources
Helixi169 – 1757Combined sources
Helixi183 – 1853Combined sources
Beta strandi188 – 1903Combined sources
Helixi194 – 2007Combined sources
Helixi209 – 22012Combined sources
Helixi223 – 2286Combined sources
Beta strandi234 – 2396Combined sources
Helixi241 – 2477Combined sources
Helixi251 – 26010Combined sources
Helixi271 – 2733Combined sources
Turni276 – 2794Combined sources
Helixi288 – 2947Combined sources
Helixi298 – 3069Combined sources
Helixi324 – 3318Combined sources
Helixi336 – 35621Combined sources
Beta strandi357 – 3604Combined sources
Helixi362 – 3643Combined sources
Helixi373 – 3797Combined sources
Helixi383 – 39513Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4DX1X-ray2.85A/B149-397[»]
4DX2X-ray2.95A/B149-397[»]
ProteinModelPortaliQ9HBA0.
SMRiQ9HBA0. Positions 148-755.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati237 – 26630ANK 1Add
BLAST
Repeati284 – 31330ANK 2Add
BLAST
Repeati369 – 39830ANK 3Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni812 – 83120Interaction with calmodulinAdd
BLAST

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG278734.
GeneTreeiENSGT00550000074425.
HOVERGENiHBG054085.
InParanoidiQ9HBA0.
KOiK04973.
OMAiEDQTNCT.
OrthoDBiEOG70S74P.
PhylomeDBiQ9HBA0.
TreeFamiTF314711.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR004729. TRP_channel.
IPR008347. TRPV1-4_channel.
IPR008348. TRPV4_channel.
[Graphical view]
PANTHERiPTHR10582:SF4. PTHR10582:SF4. 1 hit.
PfamiPF00023. Ank. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSiPR01768. TRPVRECEPTOR.
PR01769. VRL2RECEPTOR.
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
TIGRFAMsiTIGR00870. trp. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HBA0-1) [UniParc]FASTAAdd to Basket

Also known as: A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADSSEGPRA GPGEVAELPG DESGTPGGEA FPLSSLANLF EGEDGSLSPS
60 70 80 90 100
PADASRPAGP GDGRPNLRMK FQGAFRKGVP NPIDLLESTL YESSVVPGPK
110 120 130 140 150
KAPMDSLFDY GTYRHHSSDN KRWRKKIIEK QPQSPKAPAP QPPPILKVFN
160 170 180 190 200
RPILFDIVSR GSTADLDGLL PFLLTHKKRL TDEEFREPST GKTCLPKALL
210 220 230 240 250
NLSNGRNDTI PVLLDIAERT GNMREFINSP FRDIYYRGQT ALHIAIERRC
260 270 280 290 300
KHYVELLVAQ GADVHAQARG RFFQPKDEGG YFYFGELPLS LAACTNQPHI
310 320 330 340 350
VNYLTENPHK KADMRRQDSR GNTVLHALVA IADNTRENTK FVTKMYDLLL
360 370 380 390 400
LKCARLFPDS NLEAVLNNDG LSPLMMAAKT GKIGIFQHII RREVTDEDTR
410 420 430 440 450
HLSRKFKDWA YGPVYSSLYD LSSLDTCGEE ASVLEILVYN SKIENRHEML
460 470 480 490 500
AVEPINELLR DKWRKFGAVS FYINVVSYLC AMVIFTLTAY YQPLEGTPPY
510 520 530 540 550
PYRTTVDYLR LAGEVITLFT GVLFFFTNIK DLFMKKCPGV NSLFIDGSFQ
560 570 580 590 600
LLYFIYSVLV IVSAALYLAG IEAYLAVMVF ALVLGWMNAL YFTRGLKLTG
610 620 630 640 650
TYSIMIQKIL FKDLFRFLLV YLLFMIGYAS ALVSLLNPCA NMKVCNEDQT
660 670 680 690 700
NCTVPTYPSC RDSETFSTFL LDLFKLTIGM GDLEMLSSTK YPVVFIILLV
710 720 730 740 750
TYIILTFVLL LNMLIALMGE TVGQVSKESK HIWKLQWATT ILDIERSFPV
760 770 780 790 800
FLRKAFRSGE MVTVGKSSDG TPDRRWCFRV DEVNWSHWNQ NLGIINEDPG
810 820 830 840 850
KNETYQYYGF SHTVGRLRRD RWSSVVPRVV ELNKNSNPDE VVVPLDSMGN
860 870
PRCDGHQQGY PRKWRTDDAP L
Length:871
Mass (Da):98,281
Last modified:April 26, 2005 - v2
Checksum:iC62056B86C5A6FB6
GO
Isoform 2 (identifier: Q9HBA0-2) [UniParc]FASTAAdd to Basket

Also known as: B, OTRPC4beta

The sequence of this isoform differs from the canonical sequence as follows:
     385-444: Missing.

Show »
Length:811
Mass (Da):91,261
Checksum:iA498FF4BBA1CD7A5
GO
Isoform 3 (identifier: Q9HBA0-3) [UniParc]FASTAAdd to Basket

Also known as: TRPV-SV

The sequence of this isoform differs from the canonical sequence as follows:
     844-871: PLDSMGNPRCDGHQQGYPRKWRTDDAPL → RHLCRVRRKR

Show »
Length:853
Mass (Da):96,449
Checksum:iEAA07196606AED20
GO
Isoform 4 (identifier: Q9HBA0-4) [UniParc]FASTAAdd to Basket

Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     239-285: Missing.

Show »
Length:824
Mass (Da):92,904
Checksum:iEA7AFC7497D14495
GO
Isoform 5 (identifier: Q9HBA0-5) [UniParc]FASTAAdd to Basket

Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     28-61: Missing.

Show »
Length:837
Mass (Da):94,998
Checksum:i1538A7B2E76C8CDF
GO
Isoform 6 (identifier: Q9HBA0-6) [UniParc]FASTAAdd to Basket

Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     239-285: Missing.
     385-444: Missing.

Show »
Length:764
Mass (Da):85,884
Checksum:iB1307888F82B0E31
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti385 – 3851I → V in AAG28029. (PubMed:11081638)Curated
Sequence conflicti452 – 4521V → A in BAC06573. 1 PublicationCurated
Sequence conflicti781 – 7811D → N in AAG28029. (PubMed:11081638)Curated
Sequence conflicti820 – 8201D → T in BAB69040. 1 PublicationCurated
Sequence conflicti861 – 8611P → T in BAC06573. 1 PublicationCurated
Sequence conflicti867 – 8671D → E in AAG16127. (PubMed:11025659)Curated

Polymorphismi

Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIMi: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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191P → S Associated with lower sodium concentraions in serum; shows diminished response to hypotonic stress relative to wild-type.
Corresponds to variant rs3742030 [ dbSNP | Ensembl ].
VAR_052391
Natural varianti89 – 891T → I in MTD; lethal form. 1 Publication
VAR_064517
Natural varianti97 – 971P → R in DSMAC; loss of function mutation. 1 Publication
VAR_067989
Natural varianti183 – 1831E → K Found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 1 Publication
VAR_064518
Natural varianti197 – 1971K → R in MTD; lethal form. 1 Publication
VAR_064519
Natural varianti199 – 1991L → F in MTD. 1 Publication
VAR_064520
Natural varianti232 – 2321R → C in DSMAC and CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 2 Publications
VAR_067990
Natural varianti269 – 2691R → C in CMT2C. 1 Publication
VAR_063528
Natural varianti269 – 2691R → H in DSMAC and CMT2C; increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 3 Publications
VAR_063529
Natural varianti270 – 2701G → V in FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists. 1 Publication
VAR_068498
Natural varianti271 – 2711R → P in FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists. 1 Publication
VAR_068499
Natural varianti273 – 2731F → L in FDAB; poorly expressed on the cell surface; mutant channels show a significantly reduced response to agonists. 1 Publication
VAR_068500
Natural varianti278 – 2781E → K in SMDK. 1 Publication
VAR_064521
Natural varianti295 – 2951T → A in MTD. 1 Publication
VAR_064522
Natural varianti315 – 3151R → W in CMT2C. 2 Publications
VAR_063541
Natural varianti316 – 3161R → C in CMT2C and SPSMA. 2 Publications
VAR_063530
Natural varianti316 – 3161R → H in CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death. 1 Publication
VAR_067991
Natural varianti331 – 3311I → F in MTD. 2 Publications
VAR_062331
Natural varianti331 – 3311I → T in MTD. 1 Publication
VAR_064523
Natural varianti333 – 3364Missing in SMDK.
VAR_067992
Natural varianti333 – 3331D → G in SMDK. 1 Publication
VAR_062332
Natural varianti342 – 3421V → F in MTD. 1 Publication
VAR_064524
Natural varianti471 – 4711Missing in MTD; lethal form. 2 Publications
VAR_064525
Natural varianti542 – 5421S → Y in CMT2C. 1 Publication
VAR_067993
Natural varianti592 – 5921F → L in MTD. 1 Publication
VAR_064526
Natural varianti594 – 5941R → H in SMDK and PSTD. 3 Publications
VAR_062333
Natural varianti596 – 5961L → P in SMDK. 1 Publication
VAR_064527
Natural varianti600 – 6001G → W in SMDK. 1 Publication
VAR_064528
Natural varianti602 – 6021Y → C Found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 1 Publication
VAR_064529
Natural varianti604 – 6041I → M in MTD; lethal form. 1 Publication
VAR_064530
Natural varianti616 – 6161R → Q in BRAC3; this mutation results in a gain of function and a constitutive activation of the channel. 1 Publication
VAR_054805
Natural varianti617 – 6171F → L in MTD. 1 Publication
VAR_064531
Natural varianti618 – 6181L → P in MTD. 2 Publications
VAR_064532
Natural varianti620 – 6201V → I in BRAC3; this mutation results in a gain of function and a constitutive activation of the channel. 1 Publication
VAR_054806
Natural varianti625 – 6251M → I in SMDK. 1 Publication
VAR_064533
Natural varianti709 – 7091L → M in SMDK. 1 Publication
VAR_064534
Natural varianti716 – 7161A → S in SMDK. 1 Publication
VAR_062334
Natural varianti775 – 7751R → K in MTD. 1 Publication
VAR_064535
Natural varianti777 – 7771C → Y in SMDK. 1 Publication
VAR_064536
Natural varianti797 – 7971E → K in MTD and SMDK; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 3 Publications
VAR_064537
Natural varianti799 – 7991P → A in MTD. 1 Publication
VAR_064538
Natural varianti799 – 7991P → L in MTD; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. 4 Publications
VAR_062335
Natural varianti799 – 7991P → R in MTD. 1 Publication
VAR_064539
Natural varianti799 – 7991P → S in MTD. 1 Publication
VAR_064540

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei28 – 6134Missing in isoform 5. 1 PublicationVSP_026614Add
BLAST
Alternative sequencei239 – 28547Missing in isoform 4 and isoform 6. 1 PublicationVSP_026615Add
BLAST
Alternative sequencei385 – 44460Missing in isoform 2 and isoform 6. 2 PublicationsVSP_013436Add
BLAST
Alternative sequencei844 – 87128PLDSM…DDAPL → RHLCRVRRKR in isoform 3. 1 PublicationVSP_013437Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF263523 mRNA. Translation: AAG28029.1.
AF258465 mRNA. Translation: AAG16127.1.
AB100308 mRNA. Translation: BAC55864.1.
AB032427 mRNA. Translation: BAB69040.1.
AB073669 mRNA. Translation: BAC06573.1.
AJ296305 mRNA. Translation: CAC82937.1.
DQ059644 mRNA. Translation: AAZ04918.1.
DQ059645 mRNA. Translation: AAZ04919.1.
DQ059646 mRNA. Translation: AAZ04920.1.
CH471054 Genomic DNA. Translation: EAW97879.1.
BC117426 mRNA. Translation: AAI17427.1.
BC143315 mRNA. Translation: AAI43316.1.
AF279673 mRNA. Translation: AAK69487.1.
CCDSiCCDS53827.1. [Q9HBA0-6]
CCDS53828.1. [Q9HBA0-4]
CCDS53829.1. [Q9HBA0-5]
CCDS9134.1. [Q9HBA0-1]
CCDS9135.1. [Q9HBA0-2]
RefSeqiNP_001170899.1. NM_001177428.1. [Q9HBA0-4]
NP_001170902.1. NM_001177431.1. [Q9HBA0-5]
NP_001170904.1. NM_001177433.1. [Q9HBA0-6]
NP_067638.3. NM_021625.4. [Q9HBA0-1]
NP_671737.1. NM_147204.2. [Q9HBA0-2]
XP_005253975.1. XM_005253918.1. [Q9HBA0-1]
XP_005253976.1. XM_005253919.1. [Q9HBA0-5]
UniGeneiHs.506713.

Genome annotation databases

EnsembliENST00000261740; ENSP00000261740; ENSG00000111199. [Q9HBA0-1]
ENST00000418703; ENSP00000406191; ENSG00000111199. [Q9HBA0-1]
ENST00000536838; ENSP00000444336; ENSG00000111199. [Q9HBA0-5]
ENST00000537083; ENSP00000442738; ENSG00000111199. [Q9HBA0-2]
ENST00000541794; ENSP00000442167; ENSG00000111199. [Q9HBA0-4]
ENST00000544971; ENSP00000443611; ENSG00000111199. [Q9HBA0-6]
GeneIDi59341.
KEGGihsa:59341.
UCSCiuc001tpg.2. human. [Q9HBA0-5]
uc001tph.2. human. [Q9HBA0-4]
uc001tpi.2. human. [Q9HBA0-6]
uc001tpj.2. human. [Q9HBA0-1]
uc021rdp.1. human. [Q9HBA0-2]

Polymorphism databases

DMDMi62901470.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF263523 mRNA. Translation: AAG28029.1 .
AF258465 mRNA. Translation: AAG16127.1 .
AB100308 mRNA. Translation: BAC55864.1 .
AB032427 mRNA. Translation: BAB69040.1 .
AB073669 mRNA. Translation: BAC06573.1 .
AJ296305 mRNA. Translation: CAC82937.1 .
DQ059644 mRNA. Translation: AAZ04918.1 .
DQ059645 mRNA. Translation: AAZ04919.1 .
DQ059646 mRNA. Translation: AAZ04920.1 .
CH471054 Genomic DNA. Translation: EAW97879.1 .
BC117426 mRNA. Translation: AAI17427.1 .
BC143315 mRNA. Translation: AAI43316.1 .
AF279673 mRNA. Translation: AAK69487.1 .
CCDSi CCDS53827.1. [Q9HBA0-6 ]
CCDS53828.1. [Q9HBA0-4 ]
CCDS53829.1. [Q9HBA0-5 ]
CCDS9134.1. [Q9HBA0-1 ]
CCDS9135.1. [Q9HBA0-2 ]
RefSeqi NP_001170899.1. NM_001177428.1. [Q9HBA0-4 ]
NP_001170902.1. NM_001177431.1. [Q9HBA0-5 ]
NP_001170904.1. NM_001177433.1. [Q9HBA0-6 ]
NP_067638.3. NM_021625.4. [Q9HBA0-1 ]
NP_671737.1. NM_147204.2. [Q9HBA0-2 ]
XP_005253975.1. XM_005253918.1. [Q9HBA0-1 ]
XP_005253976.1. XM_005253919.1. [Q9HBA0-5 ]
UniGenei Hs.506713.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4DX1 X-ray 2.85 A/B 149-397 [» ]
4DX2 X-ray 2.95 A/B 149-397 [» ]
ProteinModelPortali Q9HBA0.
SMRi Q9HBA0. Positions 148-755.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121883. 12 interactions.
DIPi DIP-35702N.
IntActi Q9HBA0. 3 interactions.
MINTi MINT-4535111.

Chemistry

BindingDBi Q9HBA0.
ChEMBLi CHEMBL3119.
GuidetoPHARMACOLOGYi 510.

PTM databases

PhosphoSitei Q9HBA0.

Polymorphism databases

DMDMi 62901470.

Proteomic databases

MaxQBi Q9HBA0.
PaxDbi Q9HBA0.
PRIDEi Q9HBA0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261740 ; ENSP00000261740 ; ENSG00000111199 . [Q9HBA0-1 ]
ENST00000418703 ; ENSP00000406191 ; ENSG00000111199 . [Q9HBA0-1 ]
ENST00000536838 ; ENSP00000444336 ; ENSG00000111199 . [Q9HBA0-5 ]
ENST00000537083 ; ENSP00000442738 ; ENSG00000111199 . [Q9HBA0-2 ]
ENST00000541794 ; ENSP00000442167 ; ENSG00000111199 . [Q9HBA0-4 ]
ENST00000544971 ; ENSP00000443611 ; ENSG00000111199 . [Q9HBA0-6 ]
GeneIDi 59341.
KEGGi hsa:59341.
UCSCi uc001tpg.2. human. [Q9HBA0-5 ]
uc001tph.2. human. [Q9HBA0-4 ]
uc001tpi.2. human. [Q9HBA0-6 ]
uc001tpj.2. human. [Q9HBA0-1 ]
uc021rdp.1. human. [Q9HBA0-2 ]

Organism-specific databases

CTDi 59341.
GeneCardsi GC12M110220.
GeneReviewsi TRPV4.
HGNCi HGNC:18083. TRPV4.
HPAi HPA007150.
MIMi 113500. phenotype.
156530. phenotype.
168400. phenotype.
181405. phenotype.
184095. phenotype.
184252. phenotype.
600175. phenotype.
605427. gene.
606071. phenotype.
606835. phenotype.
613508. phenotype.
neXtProti NX_Q9HBA0.
Orphaneti 93304. Autosomal dominant brachyolmia.
99937. Autosomal dominant Charcot-Marie-Tooth disease type 2C.
1216. Autosomal dominant congenital benign spinal muscular atrophy.
85169. Familial digital arthropathy-brachydactyly.
2635. Metatropic dysplasia.
2646. Parastremmatic dwarfism.
263482. Spondyloepiphyseal dysplasia, Maroteaux type.
93314. Spondylometaphyseal dysplasia, Kozlowski type.
PharmGKBi PA38293.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG278734.
GeneTreei ENSGT00550000074425.
HOVERGENi HBG054085.
InParanoidi Q9HBA0.
KOi K04973.
OMAi EDQTNCT.
OrthoDBi EOG70S74P.
PhylomeDBi Q9HBA0.
TreeFami TF314711.

Enzyme and pathway databases

Reactomei REACT_169333. TRP channels.
SignaLinki Q9HBA0.

Miscellaneous databases

GeneWikii TRPV4.
GenomeRNAii 59341.
NextBioi 65228.
PROi Q9HBA0.
SOURCEi Search...

Gene expression databases

Bgeei Q9HBA0.
ExpressionAtlasi Q9HBA0. baseline and differential.
Genevestigatori Q9HBA0.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR004729. TRP_channel.
IPR008347. TRPV1-4_channel.
IPR008348. TRPV4_channel.
[Graphical view ]
PANTHERi PTHR10582:SF4. PTHR10582:SF4. 1 hit.
Pfami PF00023. Ank. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view ]
PRINTSi PR01768. TRPVRECEPTOR.
PR01769. VRL2RECEPTOR.
SMARTi SM00248. ANK. 3 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
TIGRFAMsi TIGR00870. trp. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor."
    Liedtke W.B., Choe Y., Marti-Renom M.A., Bell A.M., Denis C.S., Sali A., Hudspeth A.J., Friedman J.M., Heller S.
    Cell 103:525-535(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity."
    Strotmann R., Harteneck C., Nunnenmacher K., Schultz G., Plant T.D.
    Nat. Cell Biol. 2:695-702(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
    Tissue: Kidney cortex.
  3. "Impaired pressure sensation in mice lacking TRPV4."
    Suzuki M., Mizuno A., Kodaira K., Imai M.
    J. Biol. Chem. 278:22664-22668(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  4. "Molecular cloning of a new member of vanilloid receptor channel-like proteins."
    Ishibashi K.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. Kelsell R.E.
    Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  6. Xu F., Satoh E., Iijima T.
    Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT MTD PRO-618.
    Tissue: Aortic endothelium.
  7. "Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking."
    Arniges M., Fernandez-Fernandez J.M., Albrecht N., Schaefer M., Valverde M.A.
    J. Biol. Chem. 281:1580-1586(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6), SUBCELLULAR LOCATION, SELF-ASSOCIATION.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon.
  10. "Cloning of mouse and human vanilloid receptor-like protein 2 (VRL-2)."
    Derst C., Schafer M.K.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 69-871.
  11. "Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site."
    Strotmann R., Schultz G., Plant T.D.
    J. Biol. Chem. 278:26541-26549(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CALMODULIN, MUTAGENESIS OF 186-ARG--SER-824 AND ARG-828.
  12. "An environmental sensor, TRPV4 is a novel regulator of intracellular Ca2+ in human synoviocytes."
    Itoh Y., Hatano N., Hayashi H., Onozaki K., Miyazawa K., Muraki K.
    Am. J. Physiol. 297:C1082-C1090(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.
  13. "A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia."
    Tian W., Fu Y., Garcia-Elias A., Fernandez-Fernandez J.M., Vicente R., Kramer P.L., Klein R.F., Hitzemann R., Orwoll E.S., Wilmot B., McWeeney S., Valverde M.A., Cohen D.M.
    Proc. Natl. Acad. Sci. U.S.A. 106:14034-14039(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SSQTL1, ASSOCIATION OF VARIANT SER-19 WITH HYPONATREMIA.
  14. "Identification of a Protein Kinase C-dependent phosphorylation site involved in sensitization of TRPV4 channel."
    Peng H., Lewandrowski U., Muller B., Sickmann A., Walz G., Wegierski T.
    Biochem. Biophys. Res. Commun. 391:1721-1725(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-824, IDENTIFICATION BY MASS SPECTROMETRY, MUTAGENESIS OF SER-824.
  15. "Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations."
    Lanciotti A., Brignone M.S., Molinari P., Visentin S., De Nuccio C., Macchia G., Aiello C., Bertini E., Aloisi F., Petrucci T.C., Ambrosini E.
    Hum. Mol. Genet. 21:2166-2180(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  16. "Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel."
    Inada H., Procko E., Sotomayor M., Gaudet R.
    Biochemistry 51:6195-6206(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.85 ANGSTROMS) OF 149-397 ALONE AND IN COMPLEX WITH ATP.
  17. Cited for: VARIANTS BRAC3 GLN-616 AND ILE-620, CHARACTERIZATION OF VARIANTS BRAC3 GLN-616 AND ILE-620.
  18. "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia."
    Krakow D., Vriens J., Camacho N., Luong P., Deixler H., Funari T.L., Bacino C.A., Irons M.B., Holm I.A., Sadler L., Okenfuss E.B., Janssens A., Voets T., Rimoin D.L., Lachman R.S., Nilius B., Cohn D.H.
    Am. J. Hum. Genet. 84:307-315(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SMDK GLY-333; HIS-594 AND SER-716, VARIANTS MTD PHE-331 AND LEU-799.
  19. Cited for: VARIANTS MTD ILE-89; ARG-197; PHE-331; PHE-471 DEL; MET-604; LEU-617; PRO-618; LYS-797 AND LEU-799.
  20. "Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations."
    Nishimura G., Dai J., Lausch E., Unger S., Megarbane A., Kitoh H., Kim O.H., Cho T.J., Bedeschi F., Benedicenti F., Mendoza-Londono R., Silengo M., Schmidt-Rimpler M., Spranger J., Zabel B., Ikegawa S., Superti-Furga A.
    Am. J. Med. Genet. A 152:1443-1449(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SEDM, VARIANT PSTD HIS-594, VARIANTS LYS-183; CYS-602; LYS-797 AND LEU-799.
  21. Cited for: VARIANTS MTD PHE-199; ALA-295; THR-331; PHE-342; PHE-471 DEL; LEU-592; LYS-775; ALA-799; SER-799; LEU-799 AND ARG-799, VARIANTS SMDK LYS-278; HIS-594; PRO-596; TRP-600; ILE-625; MET-709; TYR-777 AND LYS-797.
  22. Cited for: VARIANTS CMT2C TRP-315 AND CYS-316, VARIANT DSMAC HIS-269, SUBCELLULAR LOCATION.
  23. "Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4."
    Deng H.X., Klein C.J., Yan J., Shi Y., Wu Y., Fecto F., Yau H.J., Yang Y., Zhai H., Siddique N., Hedley-Whyte E.T., Delong R., Martina M., Dyck P.J., Siddique T.
    Nat. Genet. 42:165-169(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT2C HIS-269, VARIANT SPSMA CYS-316, SUBCELLULAR LOCATION.
  24. Cited for: VARIANTS CMT2C CYS-269 AND HIS-269.
  25. "CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene."
    Chen D.H., Sul Y., Weiss M., Hillel A., Lipe H., Wolff J., Matsushita M., Raskind W., Bird T.
    Neurology 75:1968-1975(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMT2C TRP-315 AND TYR-542.
  26. Cited for: VARIANTS FDAB VAL-270; PRO-271 AND LEU-273, CHARACTERIZATION OF VARIANTS FDAB VAL-270; PRO-271 AND LEU-273.
  27. "TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies."
    Klein C.J., Shi Y., Fecto F., Donaghy M., Nicholson G., McEntagart M.E., Crosby A.H., Wu Y., Lou H., McEvoy K.M., Siddique T., Deng H.X., Dyck P.J.
    Neurology 76:887-894(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMT2C CYS-232 AND HIS-316, CHARACTERIZATION OF VARIANTS CMT2C CYS-232; CYS-269; HIS-269 AND HIS-316.
  28. Cited for: VARIANTS DSMAC ARG-97 AND CYS-232, CHARACTERIZATION OF VARIANT DSMAC ARG-97.

Entry informationi

Entry nameiTRPV4_HUMAN
AccessioniPrimary (citable) accession number: Q9HBA0
Secondary accession number(s): B7ZKQ6
, Q17R79, Q2Y122, Q2Y123, Q2Y124, Q86YZ6, Q8NDY7, Q8NG64, Q96Q92, Q96RS7, Q9HBC0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: November 26, 2014
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3