WFS1

WFS1

wolframin ER transmembrane glycoprotein | DIDMOAD, WFS, DFNA14, DFNA38, DFNA6

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Developmental clusters: GC1

Biological processes 70 terms

ATPase binding (GO:0051117)ATPase binding (GO:0051117)DNA-binding transcription factor binding (GO:0140297)ER overload response (GO:0006983)ER overload response (GO:0006983)ERAD pathway (GO:0036503)ERAD pathway (GO:0036503)ERAD pathway (GO:0036503)calcium ion homeostasis (GO:0055074)calcium ion homeostasis (GO:0055074)calcium ion homeostasis (GO:0055074)calcium-dependent protein binding (GO:0048306)calmodulin binding (GO:0005516)dendrite (GO:0030425)endoplasmic reticulum (GO:0005783)endoplasmic reticulum (GO:0005783)endoplasmic reticulum (GO:0005783)endoplasmic reticulum calcium ion homeostasis (GO:0032469)endoplasmic reticulum lumen (GO:0005788)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum unfolded protein response (GO:0030968)endoplasmic reticulum unfolded protein response (GO:0030968)glucose homeostasis (GO:0042593)intracellular signal transduction (GO:0035556)kidney development (GO:0001822)negative regulation of ATF6-mediated unfolded protein response (GO:1903892)negative regulation of ATF6-mediated unfolded protein response (GO:1903892)negative regulation of apoptotic process (GO:0043066)negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)negative regulation of intracellular signal transduction (GO:1902532)negative regulation of neuron apoptotic process (GO:0043524)negative regulation of programmed cell death (GO:0043069)negative regulation of response to endoplasmic reticulum stress (GO:1903573)negative regulation of response to endoplasmic reticulum stress (GO:1903573)negative regulation of transcription by RNA polymerase II (GO:0000122)negative regulation of transcription by RNA polymerase II (GO:0000122)negative regulation of type B pancreatic cell apoptotic process (GO:2000675)negative regulation of type B pancreatic cell apoptotic process (GO:2000675)nervous system process (GO:0050877)olfactory behavior (GO:0042048)pancreas development (GO:0031016)positive regulation of calcium ion transport (GO:0051928)positive regulation of growth (GO:0045927)positive regulation of growth (GO:0045927)positive regulation of protein metabolic process (GO:0051247)positive regulation of protein ubiquitination (GO:0031398)positive regulation of protein ubiquitination (GO:0031398)positive regulation of protein ubiquitination (GO:0031398)proteasome binding (GO:0070628)protein binding (GO:0005515)protein carrier activity (GO:0140597)protein stabilization (GO:0050821)protein stabilization (GO:0050821)protein stabilization (GO:0050821)protein stabilization (GO:0050821)protein stabilization (GO:0050821)renal water homeostasis (GO:0003091)response to endoplasmic reticulum stress (GO:0034976)response to endoplasmic reticulum stress (GO:0034976)secretory granule (GO:0030141)sensory perception of sound (GO:0007605)synaptic vesicle membrane (GO:0030672)transport vesicle (GO:0030133)ubiquitin protein ligase binding (GO:0031625)ubiquitin protein ligase binding (GO:0031625)visual perception (GO:0007601)

Expression (TPM)

TFs regulating WFS1 0 TFs

Transcription factors with Perturb-seq knockdown data for WFS1. 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 = WFS1 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 WFS1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of WFS1, 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
	chr4:6,116,627–6,117,904	152.5 kb	Distal (>10kb) Multiome	223
	chr4:6,136,985–6,138,128	132.3 kb	Distal (>10kb) Multiome	150
	chr4:6,182,458–6,183,222	87.1 kb	Distal (>10kb) Multiome	84
	chr4:6,198,414–6,201,258	69.2 kb	Distal (>10kb) Multiome	514
	chr4:6,203,985–6,211,095	65.5 kb	Distal (>10kb) Multiome	148
	chr4:6,221,494–6,222,648	47.9 kb	Distal (>10kb) Multiome	327
	chr4:6,245,263–6,246,104	24.1 kb	Distal (>10kb) Multiome	152
	chr4:6,269,131–6,270,539	122 bp	At TSS Multiome	561
	chr4:6,308,663–6,309,660	39.3 kb	Distal (>10kb) Multiome	421
	chr4:6,327,148–6,327,740	57.6 kb	Distal (>10kb) Multiome HiCAR	371
	chr4:6,367,437–6,367,936	97.8 kb	Distal (>10kb) Multiome	38
	chr4:6,470,551–6,471,324	201.1 kb	Distal (>10kb) Multiome	373
	chr4:6,472,122–6,472,949	202.8 kb	Distal (>10kb) Multiome	157

Genome Browser

Genomic view of the WFS1 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.