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]
Transcription factors with Perturb-seq knockdown data for TRPV4. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = TRPV4 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of TRPV4, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr12:109,573,025–109,574,078 | 259.8 kb | Distal (>10kb) Multiome | 1005 | |
| chr12:109,597,611–109,598,240 | 235.5 kb | Distal (>10kb) Multiome | 536 | |
| chr12:109,679,688–109,680,306 | 153.3 kb | Distal (>10kb) Multiome | 69 | |
| chr12:109,697,996–109,698,635 | 135.1 kb | Distal (>10kb) Multiome | 115 | |
| chr12:109,713,288–109,715,156 | 119.7 kb | Distal (>10kb) Multiome | 793 | |
| chr12:109,717,933–109,718,896 | 114.9 kb | Distal (>10kb) Multiome | 199 | |
| chr12:109,737,442–109,738,212 | 95.5 kb | Distal (>10kb) Multiome | 231 | |
| chr12:109,739,699–109,741,057 | 93.2 kb | Distal (>10kb) Multiome | 245 | |
| chr12:109,833,102–109,833,778 | 47 bp | At TSS Multiome | 217 | |
| chr12:109,845,155–109,845,762 | 12.0 kb | Distal (>10kb) Multiome HiCAR | 618 | |
| chr12:109,880,019–109,881,173 | 47.2 kb | Distal (>10kb) Multiome | 576 | |
| chr12:109,900,106–109,900,747 | 66.9 kb | Distal (>10kb) Multiome | 818 | |
| chr12:109,995,726–109,996,660 | 162.9 kb | Distal (>10kb) Multiome | 811 | |
| chr12:109,998,999–109,999,838 | 165.9 kb | Distal (>10kb) Multiome | 883 | |
| chr12:110,048,083–110,048,797 | 215.1 kb | Distal (>10kb) Multiome | 921 | |
| chr12:110,107,883–110,108,523 | 274.8 kb | Distal (>10kb) Multiome | 171 | |
| chr12:110,123,690–110,124,996 | 290.9 kb | Distal (>10kb) Multiome | 704 |
Genomic view of the TRPV4 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.