Gene table of TRPV4 : transient receptor potential cation channel subfamily V member 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TRPV4	OMIM link	Number of associated genes	genes
PS118220	CHARCOT-MARIE-TOOTH DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	48	KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS
606835	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TRPV4
181405	SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TRPV4
600175	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TRPV4
184252	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TRPV4
613508	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	ClinVar, OMIM	link to OMIM	1	TRPV4
184095	SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	ClinVar, OMIM	link to OMIM	1	TRPV4
113500	BRACHYOLMIA TYPE 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TRPV4
156530	METATROPIC DYSPLASIA	OMIM, HUMSAVAR	link to OMIM	1	TRPV4
168400	PARASTREMMATIC DWARFISM	OMIM, HUMSAVAR	link to OMIM	1	TRPV4

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Annotation of the gene TRPV4

Associated genes in ENSEMBL

ENSG00000111199

Associated proteins - SwissProt Accession ID

Q9HBA0

Associated PDB IDs

Cytogenetic Band

12q24.11

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inflammatory mediator regulation of TRP channels	hsa04750	6.07

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
TRP channels	R-HSA-3295583	8.18
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
calcium channel activity	GO:0005262	5.03
purine ribonucleoside triphosphate binding	GO:0035639	2.22
protein kinase C binding	GO:0005080	5.83
heterocyclic compound binding	GO:1901363	1.06
tubulin binding	GO:0015631	4.1
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
nucleotide binding	GO:0000166	1.96
transmembrane receptor activity	GO:0099600	2.53
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ion transmembrane transporter activity	GO:0015075	3.04
osmosensor activity	GO:0005034	9.74
transmembrane transporter activity	GO:0022857	2.82
stretch-activated, cation-selective, calcium channel activity	GO:0015275	9.74
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
actin binding	GO:0003779	3.74
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
small molecule binding	GO:0036094	1.89
mechanically-gated ion channel activity	GO:0008381	8.35
microtubule binding	GO:0008017	4.42
ATP binding	GO:0005524	2.43
calmodulin binding	GO:0005516	4.55
SH2 domain binding	GO:0042169	6.34
alpha-tubulin binding	GO:0043014	6.37
calcium ion transmembrane transporter activity	GO:0015085	4.89
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
actin filament binding	GO:0051015	4.93
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
protein domain specific binding	GO:0019904	3.32
purine nucleotide binding	GO:0017076	2.19
purine ribonucleotide binding	GO:0032555	2.2
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
cytoskeletal protein binding	GO:0008092	3.02
mechanically gated channel activity	GO:0022833	8.35
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
beta-tubulin binding	GO:0048487	6.13
substrate-specific channel activity	GO:0022838	3.67
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32