RHBDF2

rhomboid 5 homolog 2 | FLJ22341, RHBDL5, TOCG, iRhom2, RHBDL6, TOC

Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Developmental clusters: GC2

Biological processes 24 terms

Golgi lumen (GO:0005796)cytoplasm (GO:0005737)endomembrane system (GO:0012505)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)gene expression (GO:0010467)hair cell differentiation (GO:0035315)hair follicle cell proliferation (GO:0071335)hair follicle morphogenesis (GO:0031069)membrane (GO:0016020)negative regulation of inflammatory response to antigenic stimulus (GO:0002862)negative regulation of protein secretion (GO:0050709)negative regulation of protein secretion (GO:0050709)plasma membrane (GO:0005886)plasma membrane (GO:0005886)positive regulation of Notch signaling pathway (GO:0045747)protein binding (GO:0005515)protein maturation (GO:0051604)protein transporter activity (GO:0140318)regulation of epidermal growth factor receptor signaling pathway (GO:0042058)regulation of protein secretion (GO:0050708)serine-type endopeptidase activity (GO:0004252)

Expression (TPM)

TFs regulating RHBDF2 0 TFs

Transcription factors with Perturb-seq knockdown data for RHBDF2. 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 = RHBDF2 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

Rows:

Elements linked to RHBDF2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of RHBDF2, 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.

Element	Dist. to TSS	Link type	TFs
chr17:76,240,278–76,241,169	260.7 kb	Distal (>10kb) Multiome	560
chr17:76,264,834–76,266,286	236.3 kb	Distal (>10kb) Multiome	868
chr17:76,353,245–76,354,535	147.4 kb	Distal (>10kb) Multiome	1071
chr17:76,383,686–76,385,081	116.9 kb	Distal (>10kb) Multiome	823
chr17:76,385,493–76,386,382	115.4 kb	Distal (>10kb) Multiome	935
chr17:76,452,469–76,453,735	48.2 kb	Distal (>10kb) Multiome HiCAR	726
chr17:76,500,907–76,502,333	18 bp	At TSS Multiome	728
chr17:76,506,248–76,506,840	5.1 kb	Proximal (<10kb) Multiome	550
chr17:76,537,326–76,538,627	36.4 kb	Distal (>10kb) Multiome	192
chr17:76,540,451–76,541,323	39.6 kb	Distal (>10kb) Multiome	478
chr17:76,557,376–76,557,942	56.3 kb	Distal (>10kb) Multiome	906
chr17:76,585,404–76,586,417	84.5 kb	Distal (>10kb) Multiome	591
chr17:76,612,985–76,613,550	111.9 kb	Distal (>10kb) Multiome	308
chr17:76,671,049–76,672,200	170.3 kb	Distal (>10kb) Multiome	947
chr17:76,708,018–76,708,518	206.8 kb	Distal (>10kb) Multiome	236
chr17:76,710,928–76,711,574	209.7 kb	Distal (>10kb) Multiome	421
chr17:76,725,921–76,727,506	225.3 kb	Distal (>10kb) Multiome	1083
chr17:76,735,995–76,738,370	234.9 kb	Distal (>10kb) Multiome	1227

Genome Browser

Genomic view of the RHBDF2 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.