Q9HBA0 (TRPV4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 96.
History...
Clusters with 
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 871 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.2 Ref.11 Ref.12 |
| Subunit structure | 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 By similarity. Ref.11 |
| Subcellular location | Cell membrane; Multi-pass membrane protein By similarity. Cell junction › adherens junction By similarity. Note: Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum. Ref.7 Ref.20 Ref.21 Isoform 1: Cell membrane Ref.7 Ref.20 Ref.21. Isoform 5: Cell membrane Ref.7 Ref.20 Ref.21. |
| Tissue specificity | Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level). Ref.12 |
| Post-translational modification | Phosphorylation results in enhancement of its channel function. |
| Polymorphism | 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. |
| Involvement in disease | Defects in TRPV4 are the cause of brachyolmia type 3 (BRAC3) [MIM:113500]; also known as brachyrachia. The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. BRAC3 is an autosomal dominant form with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Ref.15 Defects in TRPV4 are the cause of spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]. The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDK is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles. Ref.16 Ref.19 Defects in TRPV4 are the cause of metatropic dysplasia (MTD) [MIM:156530]; also called metatropic dwarfism. Metatropic dysplasia is 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. Ref.16 Ref.17 Ref.19 Defects in TRPV4 are the cause of 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. Ref.20 Defects in TRPV4 are the cause of Charcot-Marie-Tooth disease type 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 regeneration 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. Ref.20 Ref.21 Ref.22 Defects in TRPV4 are the cause of Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]. It is 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. Ref.21 Defects in TRPV4 are the cause of spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM:184095]. It is 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. Ref.18 Defects in TRPV4 are the cause of parastremmatic dwarfism (PSTD) [MIM:168400]. It is 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. Ref.18 |
| Sequence similarities | Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily. [View classification] Contains 3 ANK repeats. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HBA0-1) 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. | ||||||
| Isoform 2 (identifier: Q9HBA0-2) Also known as: B; OTRPC4beta; The sequence of this isoform differs from the canonical sequence as follows: 385-444: Missing. | ||||||
| Isoform 3 (identifier: Q9HBA0-3) Also known as: TRPV-SV; The sequence of this isoform differs from the canonical sequence as follows: 844-871: PLDSMGNPRCDGHQQGYPRKWRTDDAPL → RHLCRVRRKR | ||||||
| Isoform 4 (identifier: Q9HBA0-4) Also known as: C; The sequence of this isoform differs from the canonical sequence as follows: 239-285: Missing. | ||||||
| Isoform 5 (identifier: Q9HBA0-5) Also known as: D; The sequence of this isoform differs from the canonical sequence as follows: 28-61: Missing. | ||||||
| Isoform 6 (identifier: Q9HBA0-6) Also known as: E; The sequence of this isoform differs from the canonical sequence as follows: 239-285: Missing. 385-444: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 871 | 871 | Transient receptor potential cation channel subfamily V member 4 | PRO_0000215347 | |||||
Regions | |||||||||
| Topological domain | 1 – 465 | 465 | Cytoplasmic Potential | ||||||
| Transmembrane | 466 – 486 | 21 | Helical; Potential | ||||||
| Topological domain | 487 – 508 | 22 | Extracellular Potential | ||||||
| Transmembrane | 509 – 529 | 21 | Helical; Potential | ||||||
| Topological domain | 530 – 550 | 21 | Cytoplasmic Potential | ||||||
| Transmembrane | 551 – 571 | 21 | Helical; Potential | ||||||
| Topological domain | 572 | 1 | Extracellular Potential | ||||||
| Transmembrane | 573 – 593 | 21 | Helical; Potential | ||||||
| Topological domain | 594 – 616 | 23 | Cytoplasmic Potential | ||||||
| Transmembrane | 617 – 637 | 21 | Helical; Potential | ||||||
| Intramembrane | 648 – 678 | 31 | Pore-forming; Probable | ||||||
| Transmembrane | 691 – 711 | 21 | Helical; Potential | ||||||
| Topological domain | 712 – 871 | 160 | Cytoplasmic Potential | ||||||
| Repeat | 237 – 266 | 30 | ANK 1 | ||||||
| Repeat | 284 – 313 | 30 | ANK 2 | ||||||
| Repeat | 369 – 398 | 30 | ANK 3 | ||||||
| Region | 812 – 831 | 20 | Interaction with calmodulin | ||||||
Amino acid modifications | |||||||||
| Modified residue | 253 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 824 | 1 | Phosphoserine; by PKC and PKA Ref.14 | ||||||
Natural variations | |||||||||
| Alternative sequence | 28 – 61 | 34 | Missing in isoform 5. | VSP_026614 | |||||
| Alternative sequence | 239 – 285 | 47 | Missing in isoform 4 and isoform 6. | VSP_026615 | |||||
| Alternative sequence | 385 – 444 | 60 | Missing in isoform 2 and isoform 6. | VSP_013436 | |||||
| Alternative sequence | 844 – 871 | 28 | PLDSM…DDAPL → RHLCRVRRKR in isoform 3. | VSP_013437 | |||||
| Natural variant | 19 | 1 | P → S Associated with lower sodium concentraions in serum; shows diminished response to hypotonic stress relative to wild-type. Ref.13 Corresponds to variant rs3742030 [ dbSNP | Ensembl ]. | VAR_052391 | |||||
| Natural variant | 89 | 1 | T → I in MTD; lethal form. Ref.17 | VAR_064517 | |||||
| Natural variant | 183 | 1 | E → K Found in a patient with spondyloepiphyseal dysplasia Maroteaux type. Ref.18 | VAR_064518 | |||||
| Natural variant | 197 | 1 | K → R in MTD; lethal form. Ref.17 | VAR_064519 | |||||
| Natural variant | 199 | 1 | L → F in MTD. Ref.19 | VAR_064520 | |||||
| Natural variant | 269 | 1 | R → C in CMT2C. Ref.22 | VAR_063528 | |||||
| Natural variant | 269 | 1 | R → H in CMT2C and DSMAC. Ref.20 Ref.21 Ref.22 | VAR_063529 | |||||
| Natural variant | 278 | 1 | E → K in SMDK. Ref.19 | VAR_064521 | |||||
| Natural variant | 295 | 1 | T → A in MTD. Ref.19 | VAR_064522 | |||||
| Natural variant | 315 | 1 | R → W in CMT2C. Ref.20 | VAR_063541 | |||||
| Natural variant | 316 | 1 | R → C in CMT2C and SPSMA. Ref.20 Ref.21 | VAR_063530 | |||||
| Natural variant | 331 | 1 | I → F in MTD. Ref.16 Ref.17 | VAR_062331 | |||||
| Natural variant | 331 | 1 | I → T in MTD. Ref.19 | VAR_064523 | |||||
| Natural variant | 333 | 1 | D → G in SMDK. Ref.16 | VAR_062332 | |||||
| Natural variant | 342 | 1 | V → F in MTD. Ref.19 | VAR_064524 | |||||
| Natural variant | 471 | 1 | Missing in MTD; lethal form. | VAR_064525 | |||||
| Natural variant | 592 | 1 | F → L in MTD. Ref.19 | VAR_064526 | |||||
| Natural variant | 594 | 1 | R → H in SMDK and PSTD. Ref.16 Ref.18 Ref.19 | VAR_062333 | |||||
| Natural variant | 596 | 1 | L → P in SMDK. Ref.19 | VAR_064527 | |||||
| Natural variant | 600 | 1 | G → W in SMDK. Ref.19 | VAR_064528 | |||||
| Natural variant | 602 | 1 | Y → C Found in a patient with spondyloepiphyseal dysplasia Maroteaux type. Ref.18 | VAR_064529 | |||||
| Natural variant | 604 | 1 | I → M in MTD; lethal form. Ref.17 | VAR_064530 | |||||
| Natural variant | 616 | 1 | R → Q in BRAC3; this mutation results in a gain of function and a constitutive activation of the channel. Ref.15 | VAR_054805 | |||||
| Natural variant | 617 | 1 | F → L in MTD. Ref.17 | VAR_064531 | |||||
| Natural variant | 618 | 1 | L → P Found in a patient with a lethal form of metatropic dysplasia; uncertain pathological significance. Ref.6 Ref.17 | VAR_064532 | |||||
| Natural variant | 620 | 1 | V → I in BRAC3; this mutation results in a gain of function and a constitutive activation of the channel. Ref.15 | VAR_054806 | |||||
| Natural variant | 625 | 1 | M → I in SMDK. Ref.19 | VAR_064533 | |||||
| Natural variant | 709 | 1 | L → M in SMDK. Ref.19 | VAR_064534 | |||||
| Natural variant | 716 | 1 | A → S in SMDK. Ref.16 | VAR_062334 | |||||
| Natural variant | 775 | 1 | R → K in MTD. Ref.19 | VAR_064535 | |||||
| Natural variant | 777 | 1 | C → Y in SMDK. Ref.19 | VAR_064536 | |||||
| Natural variant | 797 | 1 | E → K in MTD and SMDK; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. Ref.17 Ref.18 Ref.19 | VAR_064537 | |||||
| Natural variant | 799 | 1 | P → A in MTD. Ref.19 | VAR_064538 | |||||
| Natural variant | 799 | 1 | P → L in MTD; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type. Ref.16 Ref.17 Ref.18 Ref.19 | VAR_062335 | |||||
| Natural variant | 799 | 1 | P → R in MTD. Ref.19 | VAR_064539 | |||||
| Natural variant | 799 | 1 | P → S in MTD. Ref.19 | VAR_064540 | |||||
Experimental info | |||||||||
| Mutagenesis | 816 – 821 | 6 | RLRRDR → ELEEDE: Loss of calmodulin binding; when associated with A-828. | ||||||
| Mutagenesis | 821 – 824 | 4 | RWSS → AASA: Loss of calmodulin binding. Ref.14 | ||||||
| Mutagenesis | 822 | 1 | W → A: Loss of Ca(2+) dependent current potentiation. | ||||||
| Mutagenesis | 824 | 1 | S → A: Loss of phosphorylation. Ref.14 | ||||||
| Mutagenesis | 824 | 1 | S → D: Up-regulation of its function. Ref.14 | ||||||
| Mutagenesis | 828 | 1 | R → A: Loss of calmodulin binding; when associated with 816-ELEEDE-821. Ref.11 | ||||||
| Sequence conflict | 385 | 1 | I → V in AAG28029. Ref.1 | ||||||
| Sequence conflict | 452 | 1 | V → A in BAC06573. Ref.6 | ||||||
| Sequence conflict | 781 | 1 | D → N in AAG28029. Ref.1 | ||||||
| Sequence conflict | 820 | 1 | D → T in BAB69040. Ref.4 | ||||||
| Sequence conflict | 861 | 1 | P → T in BAC06573. Ref.6 | ||||||
| Sequence conflict | 867 | 1 | D → E in AAG16127. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [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: 11081638] [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: 11025659] [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: 12692122] [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 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: 16293632] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6), SUBCELLULAR LOCATION, SELF-ASSOCIATION. |
| [8] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R.  Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 12724311] [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: 19759329] [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: 19666518] [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: 20043876] [Abstract] Cited for: PHOSPHORYLATION AT SER-824, MASS SPECTROMETRY, MUTAGENESIS OF SER-824. |
| [15] | "Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia." Rock M.J., Prenen J., Funari V.A., Funari T.L., Merriman B., Nelson S.F., Lachman R.S., Wilcox W.R., Reyno S., Quadrelli R., Vaglio A., Owsianik G., Janssens A., Voets T., Ikegawa S., Nagai T., Rimoin D.L., Nilius B., Cohn D.H. Nat. Genet. 40:999-1003(2008) [PubMed: 18587396] [Abstract] Cited for: VARIANTS BRAC3 GLN-616 AND ILE-620, CHARACTERIZATION OF VARIANTS BRAC3 GLN-616 AND ILE-620. |
| [16] | "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: 19232556] [Abstract] Cited for: VARIANTS SMDK GLY-333; HIS-594 AND SER-716, VARIANTS MTD PHE-331 AND LEU-799. |
| [17] | "Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia." Camacho N., Krakow D., Johnykutty S., Katzman P.J., Pepkowitz S., Vriens J., Nilius B., Boyce B.F., Cohn D.H. Am. J. Med. Genet. A 152:1169-1177(2010) [PubMed: 20425821] [Abstract] Cited for: VARIANTS MTD ILE-89; ARG-197; PHE-331; PHE-471 DEL; MET-604; LEU-617; LYS-797 AND LEU-799, VARIANT PRO-618. |
| [18] | "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: 20503319] [Abstract] Cited for: INVOLVEMENT IN SEDM, VARIANT PSTD HIS-594, VARIANTS LYS-183; CYS-602; LYS-797 AND LEU-799. |
| [19] | "Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family." Dai J., Kim O.H., Cho T.J., Schmidt-Rimpler M., Tonoki H., Takikawa K., Haga N., Miyoshi K., Kitoh H., Yoo W.J., Choi I.H., Song H.R., Jin D.K., Kim H.T., Kamasaki H., Bianchi P., Grigelioniene G., Nampoothiri S. Ikegawa S.J. Med. Genet. 47:704-709(2010) [PubMed: 20577006] [Abstract] 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. |
| [20] | "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C." Auer-Grumbach M., Olschewski A., Papic L., Kremer H., McEntagart M.E., Uhrig S., Fischer C., Frohlich E., Balint Z., Tang B., Strohmaier H., Lochmuller H., Schlotter-Weigel B., Senderek J., Krebs A., Dick K.J., Petty R., Longman C. Guelly C.Nat. Genet. 42:160-164(2010) [PubMed: 20037588] [Abstract] Cited for: VARIANTS CMT2C TRP-315 AND CYS-316, VARIANT DSMAC HIS-269, SUBCELLULAR LOCATION. |
| [21] | "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: 20037587] [Abstract] Cited for: VARIANT CMT2C HIS-269, VARIANT SPSMA CYS-316, SUBCELLULAR LOCATION. |
| [22] | "Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C." Landoure G., Zdebik A.A., Martinez T.L., Burnett B.G., Stanescu H.C., Inada H., Shi Y., Taye A.A., Kong L., Munns C.H., Choo S.S., Phelps C.B., Paudel R., Houlden H., Ludlow C.L., Caterina M.J., Gaudet R., Kleta R., Fischbeck K.H., Sumner C.J. Nat. Genet. 42:170-174(2010) [PubMed: 20037586] [Abstract] Cited for: VARIANTS CMT2C CYS-269 AND HIS-269. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00168624. IPI00168926. IPI00555678. IPI00657947. IPI00658012. IPI00853621. |
| RefSeq | NP_001170899.1. NM_001177428.1. NP_001170902.1. NM_001177431.1. NP_001170904.1. NM_001177433.1. NP_067638.3. NM_021625.4. NP_671737.1. NM_147204.2. |
| UniGene | Hs.506713. |
3D structure databases | |
| ProteinModelPortal | Q9HBA0. |
| SMR | Q9HBA0. Positions 146-396. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HBA0. 10 interactions. |
| STRING | Q9HBA0. |
PTM databases | |
| PhosphoSite | Q9HBA0. |
Polymorphism databases | |
| DMDM | 62901470. |
Proteomic databases | |
| PRIDE | Q9HBA0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000261740; ENSP00000261740; ENSG00000111199. |
| GeneID | 59341. |
| KEGG | hsa:59341. |
| UCSC | uc001tpg.1. human. uc001tph.1. human. uc001tpi.1. human. uc001tpj.1. human. uc001tpl.1. human. |
Organism-specific databases | |
| CTD | 59341. |
| GeneCards | GC12M110220. |
| H-InvDB | HIX0010981. |
| HGNC | HGNC:18083. TRPV4. |
| HPA | HPA007150. |
| MIM | 113500. phenotype. 156530. phenotype. 168400. phenotype. 181405. phenotype. 184095. phenotype. 184252. phenotype. 600175. phenotype. 605427. gene. 606071. phenotype. 613508. phenotype. |
| neXtProt | NX_Q9HBA0. |
| PharmGKB | PA38293. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG07571. |
| GeneTree | ENSGT00550000074425. |
| HOVERGEN | HBG054085. |
| InParanoid | Q9HBA0. |
| OMA | QPQSPKA. |
| OrthoDB | EOG4JQ3WW. |
| PhylomeDB | Q9HBA0. |
Gene expression databases | |
| ArrayExpress | Q9HBA0. |
| Bgee | Q9HBA0. |
| Genevestigator | Q9HBA0. |
| GermOnline | ENSG00000111199. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR005821. Ion_trans. IPR004729. TRP_channel. IPR008347. TRPV1-4_channel. IPR008348. TRPV4_channel. IPR024862. TRPV_channel. [Graphical view] |
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. |
| KO | K04973. |
| PANTHER | PTHR10582. PTHR10582. 1 hit. PTHR10582:SF4. PTHR10582:SF4. 1 hit. |
| Pfam | PF00023. Ank. 1 hit. PF00520. Ion_trans. 1 hit. [Graphical view] |
| PRINTS | PR01768. TRPVRECEPTOR. PR01769. VRL2RECEPTOR. |
| SMART | SM00248. ANK. 3 hits. [Graphical view] |
| SUPFAM | SSF48403. ANK. 1 hit. |
| TIGRFAMs | TIGR00870. Trp. 1 hit. |
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 65228. |
| SOURCE | Search... |
Entry information
| Entry name | TRPV4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HBA0 Secondary accession number(s): B7ZKQ6 Q9HBC0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |