The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Transcription factors with Perturb-seq knockdown data for MARVELD2. 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 = MARVELD2 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 MARVELD2, 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 |
|---|---|---|---|---|
| chr5:69,166,575–69,167,819 | 248.1 kb | Distal (>10kb) Multiome | 840 | |
| chr5:69,188,979–69,190,115 | 225.5 kb | Distal (>10kb) Multiome | 898 | |
| chr5:69,217,542–69,218,587 | 197.1 kb | Distal (>10kb) Multiome | 898 | |
| chr5:69,234,302–69,235,305 | 180.3 kb | Distal (>10kb) Multiome | 732 | |
| chr5:69,300,544–69,301,286 | 114.3 kb | Distal (>10kb) Multiome | 217 | |
| chr5:69,368,998–69,370,235 | 45.4 kb | Distal (>10kb) Multiome | 956 | |
| chr5:69,414,852–69,415,897 | 41 bp | At TSS Multiome | 714 | |
| chr5:69,492,169–69,494,057 | 77.6 kb | Distal (>10kb) Multiome | 821 | |
| chr5:69,499,604–69,500,518 | 85.0 kb | Distal (>10kb) Multiome | 300 |
Genomic view of the MARVELD2 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.