Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	WFS1
Previous Symbol	DFNA6, DFNA14, DFNA38
Symbol Alias	DIDMOAD, WFS
Approved Name	Wolfram syndrome 1 (wolframin)
Location	4p16.1
Position	chr4:6269849-6303265, 1
External Links	HGNC: 12762 Entrez Gene: 7466 Ensembl: ENSG00000109501 UCSC: uc003gix.3
No. of Studies	7 (Positive: 1; Negative: 6; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 7)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Tang, X. W., 2014	SNP: rs734312	There is no association between WFS1 gene H611R polymorphism and mood disorders.	Negative	Comment on Study
Ohtsuki, T.,2000	Other variant: WFS1_G576S	No association with bipolar affective disorder was suggested.	Negative	Comment on Study
Middle, F.,2000	Other variant: WFS1_exon8_A1832G	We found no evidence that variation at this polymorphism influences susceptibility to bipolar disorder.	Negative	Comment on Study
Kawamoto, T., 2004	Other variant: WFS1_A134A, WFS1_E737K, WFS1_G576S, WFS1_H611R, WFS1_I720V, WFS1_I823I, WFS1_K811K, WFS1_N500N, WFS1_R456H, WFS1_S855S, WFS1_V395V, WFS1_V503G	None of the cSNPs were associated with bipolar disorder.	Negative	Comment on Study
Furlong, R. A.,1999(b)	Other variant: WFS1_H611R	Statistical analyses of allele or genotype frequencies do not support a major role for wolframin in affective disorder.	Negative	Comment on Study
Kato, T.,2003	Other variant: WFS1_G576S, WFS1_H611R	These results did not support the pathophysiological significance of WFS1 in bipolar disorder.	Negative	Comment on Study
Koido, K.,2005	Haplotype: WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(C-C-A), WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(C-T-A), WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(C-T-G), WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(G-C-A), WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(G-C-G), WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(G-T-A), WFS1-SNP684 - WFS1_SNP1185 - WFS1_SNP1832(G-T-G) Other variant: WFS1_SNP1023, WFS1_SNP1185, WFS1_SNP1645, WFS1_SNP1832, WFS1_SNP2206, WFS1_SNP2565, WFS1_SNP935, WFS1_SNP684	In conclusion, our study supports the role of the WFS1 gene in susceptibility for MDD and BPD. By means of haplotype analysis we were able to define the GTA haplotype in the WFS1 gene related to an increased risk for mood disorders.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 38)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005516	calmodulin binding	molecular function	IEA	20

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031625	ubiquitin protein ligase binding	molecular function	ISS	25
GO:0055074	calcium ion homeostasis	biological process	IDA[14527944]	4
GO:0050877	neurological system process	biological process	IMP[9817917]	4
GO:0031398	positive regulation of protein ubiquitination	biological process	ISS	5
GO:0003091	renal water homeostasis	biological process	IMP[9817917]	9
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0042593	glucose homeostasis	biological process	IMP[9817917]	19
GO:0005215	transporter activity	molecular function	ISS	8
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	ISS; TAS	10
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0043524	negative regulation of neuron apoptotic process	biological process	IMP[9771706]	26
GO:0007605	sensory perception of sound	biological process	IMP[17492394]	18
GO:0045862	positive regulation of proteolysis	biological process	ISS	1
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	biological process	ISS	6
GO:0050821	protein stabilization	biological process	ISS	12
GO:0042048	olfactory behavior	biological process	IEA	1
GO:0070845	polyubiquitinated misfolded protein transport	biological process	ISS	1
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	biological process	ISS	5
GO:0007601	visual perception	biological process	IMP[9771706]	15
GO:0043069	negative regulation of programmed cell death	biological process	IMP[9771706]	2
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	biological process	IMP[16087305]	3
GO:0030425	dendrite	cellular component	ISS[11181571]	65
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	8
GO:0006983	ER overload response	biological process	IC[16989814]; TAS[17947299]	3
GO:0032469	endoplasmic reticulum calcium ion homeostasis	biological process	IDA[16989814]	3
GO:0030176	integral component of endoplasmic reticulum membrane	cellular component	IDA[11181571]	4
GO:0005783	endoplasmic reticulum	cellular component	ISS	49
GO:0045927	positive regulation of growth	biological process	ISS	1
GO:0051928	positive regulation of calcium ion transport	biological process	IDA[16989814]	9
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	biological process	ISS	3
GO:0033613	activating transcription factor binding	molecular function	ISS	2
GO:0022417	protein maturation by protein folding	biological process	IC[16989814]	1
GO:0048306	calcium-dependent protein binding	molecular function	IEA	7
GO:0051117	ATPase binding	molecular function	IPI[17947299]	6
GO:0051247	positive regulation of protein metabolic process	biological process	IDA[17947299]	1
GO:0034976	response to endoplasmic reticulum stress	biological process	IDA[15994758]	9
GO:0001822	kidney development	biological process	IMP[9817917]	13

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
WFS1	EIF6	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs734312	chr4:6301627 - 6301627(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 21)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
WFS1_V395V	point mutation	exon8	1 (0/1/0)
WFS1_SNP935	point mutation		1 (0/1/0)
WFS1_V503G	point mutation	exon8	1 (0/1/0)
WFS1_SNP2206	point mutation		1 (0/1/0)
WFS1_SNP1832	point mutation		1 (0/1/0)
WFS1_SNP684	point mutation		1 (1/0/0)
WFS1_SNP2565	point mutation		1 (0/1/0)
WFS1_SNP1023	point mutation		1 (0/1/0)
WFS1_S855S	point mutation	exon8	1 (0/1/0)
WFS1_SNP1645	point mutation		1 (0/1/0)
WFS1_SNP1185	point mutation		1 (0/1/0)
WFS1_E737K	point mutation	exon8	1 (0/1/0)
WFS1_A134A	point mutation	exon4	1 (0/1/0)
WFS1_I720V	point mutation	exon8	1 (0/1/0)
WFS1_H611R	point mutation	exon8	3 (0/3/0)
WFS1_G576S	point mutation	exon8	3 (0/3/0)
WFS1_exon8_A1832G	point mutation	exon8	1 (0/1/0)
WFS1_R456H	point mutation	exon8	1 (0/1/0)
WFS1_N500N	point mutation	exon8	1 (0/1/0)
WFS1_K811K	point mutation	exon8	1 (0/1/0)
WFS1_I823I	point mutation	exon8	1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16.1	chr4:6000000-11300000	2 (0/2/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
12605098	61	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 4)

Reference	Description	Category in MDD
10760554	It is not likely that WFS1 mutations are responsible for as much as 25% of depressive illness.	Negative
15473915	In conclusion, our study supports the role of the WFS1 gene in susceptibility for MDD and BPD. By means of haplotype analysis we were able to define the GTA haplotype in the WFS1 gene related to an increased risk for mood disorders.	Positive
10624825	Statistical analyses of allele or genotype frequencies do not support a major role for wolframin in affective disorder.	Negative
25074416	There is no association between WFS1 gene H611R polymorphism and mood disorders.	Negetive

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr4:6269849..6303265 View in gBrowse