Details for: WFS1

Gene ID: 7466

Symbol: WFS1

Ensembl ID: ENSG00000109501

Description: wolframin ER transmembrane glycoprotein

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 114.8219
    Cell Significance Index: -17.8600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 70.2561
    Cell Significance Index: -17.8200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 47.7488
    Cell Significance Index: -19.6700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 39.1212
    Cell Significance Index: -18.4700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.0209
    Cell Significance Index: -15.0400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.8158
    Cell Significance Index: -15.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.4936
    Cell Significance Index: -17.8700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.9862
    Cell Significance Index: -18.7200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.5336
    Cell Significance Index: -17.8900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0267
    Cell Significance Index: 101.5700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8694
    Cell Significance Index: 22.8600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8376
    Cell Significance Index: 756.3000
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.7291
    Cell Significance Index: 4.5300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5918
    Cell Significance Index: 64.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5673
    Cell Significance Index: 34.0600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5517
    Cell Significance Index: 89.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5504
    Cell Significance Index: 7.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4314
    Cell Significance Index: 59.2500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4195
    Cell Significance Index: 21.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4020
    Cell Significance Index: 8.7100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.3701
    Cell Significance Index: 4.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3300
    Cell Significance Index: 180.2000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3150
    Cell Significance Index: 8.4400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3024
    Cell Significance Index: 20.9200
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.2812
    Cell Significance Index: 3.1300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2792
    Cell Significance Index: 55.4000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.2641
    Cell Significance Index: 4.1900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.2110
    Cell Significance Index: 2.9500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2010
    Cell Significance Index: 5.7900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1989
    Cell Significance Index: 10.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1921
    Cell Significance Index: 5.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1795
    Cell Significance Index: 32.3500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1304
    Cell Significance Index: 16.7200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1229
    Cell Significance Index: 23.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1222
    Cell Significance Index: 24.5100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1017
    Cell Significance Index: 17.3700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0508
    Cell Significance Index: 93.7000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0503
    Cell Significance Index: 31.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0461
    Cell Significance Index: 31.8900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0411
    Cell Significance Index: 63.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0383
    Cell Significance Index: 13.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0364
    Cell Significance Index: 2.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0355
    Cell Significance Index: 48.2400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0299
    Cell Significance Index: 13.5800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0179
    Cell Significance Index: 1.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0175
    Cell Significance Index: 33.0200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0164
    Cell Significance Index: 0.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0132
    Cell Significance Index: 5.8300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0112
    Cell Significance Index: 0.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0074
    Cell Significance Index: 0.9100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0046
    Cell Significance Index: 3.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0013
    Cell Significance Index: 0.8300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0101
    Cell Significance Index: -7.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0120
    Cell Significance Index: -0.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0177
    Cell Significance Index: -9.9600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0188
    Cell Significance Index: -13.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0223
    Cell Significance Index: -1.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0356
    Cell Significance Index: -7.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0499
    Cell Significance Index: -5.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0518
    Cell Significance Index: -14.9100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0538
    Cell Significance Index: -5.5000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0574
    Cell Significance Index: -6.5500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0646
    Cell Significance Index: -3.3900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0683
    Cell Significance Index: -7.9600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0728
    Cell Significance Index: -0.4400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0773
    Cell Significance Index: -0.6300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0775
    Cell Significance Index: -11.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1021
    Cell Significance Index: -13.1900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1142
    Cell Significance Index: -2.3700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1230
    Cell Significance Index: -2.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1388
    Cell Significance Index: -9.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1449
    Cell Significance Index: -15.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1499
    Cell Significance Index: -17.6800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1691
    Cell Significance Index: -10.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1712
    Cell Significance Index: -4.6600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1718
    Cell Significance Index: -2.4100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1770
    Cell Significance Index: -5.0500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1879
    Cell Significance Index: -8.3100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2046
    Cell Significance Index: -12.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2054
    Cell Significance Index: -6.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2123
    Cell Significance Index: -8.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2124
    Cell Significance Index: -16.8200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2207
    Cell Significance Index: -4.6200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2279
    Cell Significance Index: -3.9400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2308
    Cell Significance Index: -3.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2311
    Cell Significance Index: -15.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2339
    Cell Significance Index: -11.0000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2361
    Cell Significance Index: -14.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2459
    Cell Significance Index: -8.5500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2519
    Cell Significance Index: -7.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2538
    Cell Significance Index: -14.2400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2602
    Cell Significance Index: -16.7900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3269
    Cell Significance Index: -16.5200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.3420
    Cell Significance Index: -2.2300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3570
    Cell Significance Index: -5.3800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3677
    Cell Significance Index: -15.9900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3753
    Cell Significance Index: -11.8700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3968
    Cell Significance Index: -13.9000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4239
    Cell Significance Index: -6.0700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4327
    Cell Significance Index: -3.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The wolframin protein is a 604-amino acid ER transmembrane glycoprotein with a long N-terminal cytoplasmic tail and a short C-terminal transmembrane domain. It is highly expressed in various tissues, including the pancreas, kidney, and nervous system. The protein's structure allows it to interact with other molecules, including calmodulin, calcium channels, and unfolded protein response (UPR) components. These interactions enable the protein to regulate calcium homeostasis, protein folding, and cell survival. **Pathways and Functions** The wolframin protein is involved in several signaling pathways, including: 1. **Calcium homeostasis**: Wolframin regulates calcium ion transport across the ER membrane, maintaining calcium homeostasis and preventing ER stress. 2. **Unfolded protein response (UPR)**: Wolframin interacts with UPR components, such as Ire1α and XBP1, to regulate protein folding and ER stress response. 3. **Protein metabolism**: Wolframin is involved in protein maturation, protein stabilization, and protein degradation. 4. **Insulin signaling**: Wolframin regulates insulin-like growth factor (IGF) transport and uptake, influencing glucose homeostasis. 5. **Cell survival**: Wolframin's interaction with calmodulin and calcium channels helps regulate cell survival and apoptosis. **Clinical Significance** Mutations in the WFS1 gene are associated with Wolfram syndrome, a rare genetic disorder characterized by: 1. **Diabetes**: Wolfram syndrome is often associated with diabetes, particularly type 2 diabetes. 2. **Deafness**: Patients with Wolfram syndrome often experience hearing loss or deafness. 3. **Intellectual disability**: Wolfram syndrome can lead to intellectual disability and cognitive impairment. 4. **Pancreatic islet cell dysfunction**: Wolfram syndrome is characterized by pancreatic islet cell dysfunction, leading to impaired insulin production and glucose homeostasis. In addition to its association with Wolfram syndrome, the wolframin protein's role in ER calcium regulation and its interaction with other signaling pathways make it an important component of cellular homeostasis. Further research on the wolframin protein and its interactions with other molecules may provide insights into the development of new therapeutic strategies for diseases associated with ER stress and calcium homeostasis dysregulation.

Genular Protein ID: 3788807055

Symbol: WFS1_HUMAN

Name: Wolframin

UniProtKB Accession Codes:

O76024 B2R797 D3DVT1 Q8N6I3 Q9UNW6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 8 Ensembl 3 ExpressionAtlas 1 GO 42 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9817917

Title: Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

PubMed ID: 9817917

DOI: 10.1093/hmg/7.13.2021

PubMed ID: 9771706

Title: A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome).

PubMed ID: 9771706

DOI: 10.1038/2441

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16989814

Title: WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum.

PubMed ID: 16989814

DOI: 10.1016/j.febslet.2006.09.007

PubMed ID: 11317350

Title: WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

PubMed ID: 11317350

DOI: 10.1002/humu.1110.abs

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23035048

Title: Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.

PubMed ID: 23035048

DOI: 10.1093/hmg/dds400

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26091039

Title: A single kinase generates the majority of the secreted phosphoproteome.

PubMed ID: 26091039

DOI: 10.1016/j.cell.2015.05.028

PubMed ID: 10521293

Title: Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

PubMed ID: 10521293

DOI: 10.1086/302609

PubMed ID: 10624825

Title: A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases.

PubMed ID: 10624825

DOI: 10.1016/s0304-3940(99)00865-4

PubMed ID: 10679252

Title: Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.

PubMed ID: 10679252

DOI: 10.1006/bbrc.2000.2169

PubMed ID: 10760554

Title: WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.

PubMed ID: 10760554

DOI: 10.1016/s0165-0327(99)00099-3

PubMed ID: 11709537

Title: Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

PubMed ID: 11709537

DOI: 10.1093/hmg/10.22.2501

PubMed ID: 11709538

Title: Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

PubMed ID: 11709538

DOI: 10.1093/hmg/10.22.2509

PubMed ID: 11295831

Title: Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

PubMed ID: 11295831

DOI: 10.1002/humu.32

PubMed ID: 12181639

Title: Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

PubMed ID: 12181639

DOI: 10.1007/s100380200057

PubMed ID: 11161832

Title: Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

PubMed ID: 11161832

DOI: 10.1006/mgme.2000.3107

PubMed ID: 15605410

Title: Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

PubMed ID: 15605410

DOI: 10.1002/humu.9300

PubMed ID: 16648378

Title: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

PubMed ID: 16648378

DOI: 10.1136/jmg.2005.034892

PubMed ID: 17517145

Title: A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

PubMed ID: 17517145

DOI: 10.1186/1471-2350-8-26

PubMed ID: 18688868

Title: Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PubMed ID: 18688868

DOI: 10.1002/ajmg.a.32449

PubMed ID: 18518985

Title: A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

PubMed ID: 18518985

DOI: 10.1186/1471-2350-9-48

PubMed ID: 20069065

Title: Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1.

PubMed ID: 20069065

PubMed ID: 21538838

Title: Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PubMed ID: 21538838

DOI: 10.1002/ajmg.a.33970

PubMed ID: 21356526

Title: Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

PubMed ID: 21356526

DOI: 10.1016/j.jcg.2011.01.001

PubMed ID: 22226368

Title: Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

PubMed ID: 22226368

DOI: 10.1186/1471-2350-13-3

PubMed ID: 22938506

Title: Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

PubMed ID: 22938506

DOI: 10.1186/1750-1172-7-60

PubMed ID: 23531866

Title: Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

PubMed ID: 23531866

DOI: 10.1038/ejhg.2013.52

PubMed ID: 24462758

Title: WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

PubMed ID: 24462758

DOI: 10.1016/j.gene.2014.01.040

PubMed ID: 25388789

Title: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PubMed ID: 25388789

DOI: 10.1186/s12967-014-0311-1

Sequence Information:

  • Length: 890
  • Mass: 100292
  • Checksum: 4D7F27C547004EC6
  • Sequence:
    • MDSNTAPLGP SCPQPPPAPQ PQARSRLNAT ASLEQERSER PRAPGPQAGP GPGVRDAAAP 
AEPQAQHTRS RERADGTGPT KGDMEIPFEE VLERAKAGDP KAQTEVGKHY LQLAGDTDEE 
LNSCTAVDWL VLAAKQGRRE AVKLLRRCLA DRRGITSENE REVRQLSSET DLERAVRKAA 
LVMYWKLNPK KKKQVAVAEL LENVGQVNEH DGGAQPGPVP KSLQKQRRML ERLVSSESKN 
YIALDDFVEI TKKYAKGVIP SSLFLQDDED DDELAGKSPE DLPLRLKVVK YPLHAIMEIK 
EYLIDMASRA GMHWLSTIIP THHINALIFF FIVSNLTIDF FAFFIPLVIF YLSFISMVIC 
TLKVFQDSKA WENFRTLTDL LLRFEPNLDV EQAEVNFGWN HLEPYAHFLL SVFFVIFSFP 
IASKDCIPCS ELAVITGFFT VTSYLSLSTH AEPYTRRALA TEVTAGLLSL LPSMPLNWPY 
LKVLGQTFIT VPVGHLVVLN VSVPCLLYVY LLYLFFRMAQ LRNFKGTYCY LVPYLVCFMW 
CELSVVILLE STGLGLLRAS IGYFLFLFAL PILVAGLALV GVLQFARWFT SLELTKIAVT 
VAVCSVPLLL RWWTKASFSV VGMVKSLTRS SMVKLILVWL TAIVLFCWFY VYRSEGMKVY 
NSTLTWQQYG ALCGPRAWKE TNMARTQILC SHLEGHRVTW TGRFKYVRVT DIDNSAESAI 
NMLPFFIGDW MRCLYGEAYP ACSPGNTSTA EEELCRLKLL AKHPCHIKKF DRYKFEITVG 
MPFSSGADGS RSREEDDVTK DIVLRASSEF KSVLLSLRQG SLIEFSTILE GRLGSKWPVF 
ELKAISCLNC MAQLSPTRRH VKIEHDWRST VHGAVKFAFD FFFFPFLSAA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.