Tbio WFS1 Wolframin

Protein Summary

Description

Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. 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]

Uniprot Accession IDs

• O76024
• B2R797
• D3DVT1
• Q8N6I3
• Q9UNW6

Gene Name

• WFS1

Ensembl ID

• ENST00000226760
• ENSP00000226760
• ENSG00000109501
• ENST00000503569
• ENSP00000423337

Symbol

• WFS
• WFRS
• WFSL
• CTRCT41

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.99
disease perturbation	0.83
biological term	0.77
phenotype	0.77
transcription factor perturbation	0.68

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 366.38   (req: < 5)

Gene RIFs: 121   (req: <= 3)

Antibodies: 145   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 366.38   (req: >= 5)

Gene RIFs: 121   (req: > 3)

Antibodies: 145   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 34

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

Show Full Sequence

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Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Protein-Protein Interactions (225)

Explore Interacting Targets

1 – 10 of 225

• See Interactions on String-DB

ADIPOR1

Tbio

Novelty:  0.00273623

p_int:  0.9092768

p_ni:  0.0907232

Score:  0.299

Data Source:  BioPlex,STRINGDB

P2RX2

Tchem

Family:  IC

Novelty:  0.00241146

p_int:  0.854403704

p_ni:  0.145596296

Score:  0.189

Data Source:  BioPlex,STRINGDB

YIPF3

Tbio

Novelty:  0.12021667

p_int:  0.847528002

p_ni:  0.152471998

Score:  0.151

Data Source:  BioPlex,STRINGDB

ANTXR1

Tbio

Novelty:  0.00508081

p_int:  0.759535796

p_ni:  0.240464204

Score:  0.201

Data Source:  BioPlex,STRINGDB

HSP90B1

Tchem

Novelty:  0.00135881

Score:  0.964

Data Source:  STRINGDB

DNAJC3

Tbio

Novelty:  0.02129782

Score:  0.94

Data Source:  STRINGDB

ATF6

Tbio

Family:  TF

Novelty:  0.00149266

Score:  0.935

Data Source:  STRINGDB

P4HB

Tchem

Family:  Enzyme

Novelty:  0.00107905

Score:  0.921

Data Source:  STRINGDB

GPC3

Tbio

Novelty:  0.00151823

Score:  0.919

Data Source:  STRINGDB

IL6

Tclin

Novelty:  0.00001819

Score:  0.918

Data Source:  STRINGDB

Pathways (8)

Reactome (7)

KEGG (1)

IRE1alpha activates chaperones (R-HSA-381070)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	IRE1alpha activates chaperones	50 targets	R-HSA-381070
Reactome	Metabolism of proteins	2050 targets	R-HSA-392499
Reactome	Post-translational protein modification	1450 targets	R-HSA-597592
Reactome	Post-translational protein phosphorylation	107 targets	R-HSA-8957275
Reactome	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	124 targets	R-HSA-381426

Name	Explore in Pharos	Explore in Source
IRE1alpha activates chaperones	50 targets	R-HSA-381070
Metabolism of proteins	2050 targets	R-HSA-392499
Post-translational protein modification	1450 targets	R-HSA-597592
Post-translational protein phosphorylation	107 targets	R-HSA-8957275
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	124 targets	R-HSA-381426

Gene Ontology Terms (41)

Functions (5)

Components (7)

Processes (29)

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Items per page:

10

1 – 5 of 5

GO Term	Evidence	Assigned by
ubiquitin protein ligase binding	Inferred from Direct Assay (IDA)	ParkinsonsUK-UCL
ATPase binding	Inferred from Physical Interaction (IPI)	BHF-UCL
activating transcription factor binding	Inferred from Electronic Annotation (IEA)	Ensembl
calcium-dependent protein binding	Inferred from Electronic Annotation (IEA)	Ensembl
calmodulin binding	Inferred from Electronic Annotation (IEA)	Ensembl

GWAS Traits (5)

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5

1 – 5 of 5

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
type II diabetes mellitus	EFO_0001360	15	7	4	1.1	98.6
Drugs used in diabetes use measurement	EFO_0009924	1	1	1		72.5
HbA1c measurement	EFO_0004541	1	3	3		62
response to cisplatin	GO_0072718	1	1	0	5.4	14.2
ototoxicity	EFO_0006951	1	1	0	5.4	14.2

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 5

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
type II diabetes mellitus	EFO_0001360	4	1.1	98.6
Drugs used in diabetes use measurement	EFO_0009924	1		72.5
HbA1c measurement	EFO_0004541	3		62
response to cisplatin	GO_0072718	0	5.4	14.2
ototoxicity	EFO_0006951	0	5.4	14.2

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Acetylation
Cataract
Complete proteome
Deafness
Diabetes insipidus
Diabetes mellitus
Disease mutation
Endoplasmic reticulum
Glycoprotein
Membrane

GWAS Trait Find Similar Targets

No Header	No Header
Drugs used in diabetes use measurement
HbA1c measurement
ototoxicity
response to cisplatin
type II diabetes mellitus

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
digestive/alimentary phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
integument phenotype
mortality/aging

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	wolframin ER transmembrane glycoprotein		710948
Mouse	wolframin ER transmembrane glycoprotein	MGI:1328355	22393
Rat	wolframin ER transmembrane glycoprotein	RGD:68954	83725
Dog	wolframin ER transmembrane glycoprotein	VGNC:48407	482113
Horse	wolframin ER transmembrane glycoprotein	VGNC:25031	100070117

Species	Name	OMA	EggNOG	Inparanoid
Macaque	wolframin ER transmembrane glycoprotein
Mouse	wolframin ER transmembrane glycoprotein
Rat	wolframin ER transmembrane glycoprotein
Dog	wolframin ER transmembrane glycoprotein
Horse	wolframin ER transmembrane glycoprotein

Publication Statistics

PubMed Score 366.38

PubMed score by year

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PubTator Score 218.91

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