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	XBP1
Previous Symbol	XBP2
Approved Name	X-box binding protein 1
Location	22q12.1
Position	chr22:28794555-28800597, -1
External Links	HGNC: 12801 Entrez Gene: 7494 Ensembl: ENSG00000100219 UCSC: uc032qkw.1
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kakiuchi, C.,2003	Other variant: XBP1_-116C>G	These results indicate that the -116C-->G polymorphism in XBP1 causes an impairment of its positive feedback system and increases the risk of bipolar disorder.	Positive	Comment on Study
Cheng, D., 2014	SNP: rs2269577	The XBP1-116C/G polymorphism is associated with an increased risk of bipolar disorder in Asian population.	Positive	Comment on Study
Hou, S. J., 2004	Other variant: XBP1_-116C>G	No association was demonstrated between this polymorphism and family history in bipolar disorder patients. These negative findings suggest that the XBP1 C--116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 101)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	TAS[1718857]	83
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[1903538]	66
GO:0005634	nucleus	cellular component	IDA	283
GO:0016021	integral component of membrane	cellular component	IEA	219

GO terms by database search (count: 97)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0015031	protein transport	biological process	IEA	21
GO:0055092	sterol homeostasis	biological process	ISS	1
GO:0042632	cholesterol homeostasis	biological process	ISS	8
GO:0006366	transcription from RNA polymerase II promoter	biological process	ISS	31
GO:0001935	endothelial cell proliferation	biological process	IDA[23529610]	2
GO:0060612	adipose tissue development	biological process	ISS	5
GO:0006915	apoptotic process	biological process	IEA	39
GO:0046982	protein heterodimerization activity	molecular function	IDA[1903538]; TAS[22013210]	42
GO:0010508	positive regulation of autophagy	biological process	IDA[23184933]	1
GO:1900413	positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter	biological process	TAS[22013210]	1
GO:0071333	cellular response to glucose stimulus	biological process	ISS	7
GO:0032008	positive regulation of TOR signaling	biological process	IMP[25190803]	4
GO:0042493	response to drug	biological process	IEA	57
GO:0060691	epithelial cell maturation involved in salivary gland development	biological process	IEA	1
GO:0071236	cellular response to antibiotic	biological process	IEA	3
GO:0006633	fatty acid biosynthetic process	biological process	TAS[22013210]	4
GO:0006996	organelle organization	biological process	TAS[22013210]	23
GO:0042149	cellular response to glucose starvation	biological process	ISS	7
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0055089	fatty acid homeostasis	biological process	ISS	4
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[16461360]	62
GO:0005829	cytosol	cellular component	IDA[20348923]	223
GO:0045600	positive regulation of fat cell differentiation	biological process	ISS	9
GO:0001158	enhancer sequence-specific DNA binding	molecular function	IDA[2196176]	3
GO:1990418	response to insulin-like growth factor stimulus	biological process	ISS	2
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	8
GO:0071222	cellular response to lipopolysaccharide	biological process	IDA[11460154]	12
GO:0071230	cellular response to amino acid stimulus	biological process	ISS	6
GO:0044212	transcription regulatory region DNA binding	molecular function	IDA[23184933]	17
GO:0031062	positive regulation of histone methylation	biological process	IDA[25280941]	1
GO:0045579	positive regulation of B cell differentiation	biological process	IDA[11460154]	1
GO:0005515	protein binding	molecular function	IPI[16461360]	563
GO:0071332	cellular response to fructose stimulus	biological process	ISS	1
GO:0006914	autophagy	biological process	IEA	3
GO:0006511	ubiquitin-dependent protein catabolic process	biological process	ISS	5
GO:0005737	cytoplasm	cellular component	IDA[16461360]; ISS	322
GO:0010832	negative regulation of myotube differentiation	biological process	ISS	2
GO:0007517	muscle organ development	biological process	IEA	11
GO:0071498	cellular response to fluid shear stress	biological process	IDA[25190803]	1
GO:0016049	cell growth	biological process	IDA[23529610]	7
GO:0031648	protein destabilization	biological process	IDA[16461360]; IMP[25280941]	5
GO:0071375	cellular response to peptide hormone stimulus	biological process	ISS	2
GO:0002020	protease binding	molecular function	IPI[25239945]	10
GO:0034976	response to endoplasmic reticulum stress	biological process	IDA[11779464]	9
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IEA	6
GO:1900103	positive regulation of endoplasmic reticulum unfolded protein response	biological process	IMP[16645094]	2
GO:0001525	angiogenesis	biological process	ISS	20
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	molecular function	IDA[11779464]	10
GO:0001047	core promoter binding	molecular function	ISS	8
GO:0042803	protein homodimerization activity	molecular function	TAS[22013210]	71
GO:2000353	positive regulation of endothelial cell apoptotic process	biological process	IDA[25280941]	1
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	biological process	IDA[19135031]	5
GO:2000778	positive regulation of interleukin-6 secretion	biological process	ISS	1
GO:0032869	cellular response to insulin stimulus	biological process	ISS	12
GO:0051024	positive regulation of immunoglobulin secretion	biological process	ISS	3
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[11779464]; IMP[1903538]; ISS	91
GO:0071499	cellular response to laminar fluid shear stress	biological process	IDA[25280941]	1
GO:0014065	phosphatidylinositol 3-kinase signaling	biological process	IDA[23529610]	5
GO:1901985	positive regulation of protein acetylation	biological process	IDA[25280941]	2
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[25239945]	25
GO:0051602	response to electrical stimulus	biological process	IEA	11
GO:0045582	positive regulation of T cell differentiation	biological process	IDA[11460154]	1
GO:0019901	protein kinase binding	molecular function	IPI[20348923]	29
GO:1990440	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	biological process	TAS[22013210]	3
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0006955	immune response	biological process	TAS[22013210]	19
GO:0030331	estrogen receptor binding	molecular function	TAS[22013210]	3
GO:0002639	positive regulation of immunoglobulin production	biological process	IDA[11460154]	1
GO:1903489	positive regulation of lactation	biological process	ISS	1
GO:0048666	neuron development	biological process	ISS	7
GO:0001085	RNA polymerase II transcription factor binding	molecular function	IEA	6
GO:0031670	cellular response to nutrient	biological process	ISS	1
GO:0035356	cellular triglyceride homeostasis	biological process	ISS	2
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	ISS; TAS	10
GO:1900102	negative regulation of endoplasmic reticulum unfolded protein response	biological process	IDA[25239945]	1
GO:0031490	chromatin DNA binding	molecular function	IDA[25280941]	7
GO:0031017	exocrine pancreas development	biological process	IEA	2
GO:1903071	positive regulation of ER-associated ubiquitin-dependent protein catabolic process	biological process	TAS[22013210]	1
GO:0060096	serotonin secretion, neurotransmission	biological process	IEA	1
GO:0071353	cellular response to interleukin-4	biological process	ISS	4
GO:0045348	positive regulation of MHC class II biosynthetic process	biological process	IMP[1903538]	5
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	IDA[23529610]	12
GO:0034599	cellular response to oxidative stress	biological process	IDA[25190803]	7
GO:0030176	integral component of endoplasmic reticulum membrane	cellular component	IDA[25239945]	4
GO:1900100	positive regulation of plasma cell differentiation	biological process	IDA[11460154]	1
GO:0043066	negative regulation of apoptotic process	biological process	ISS	46
GO:0005783	endoplasmic reticulum	cellular component	IDA[23529610]	49
GO:0036498	IRE1-mediated unfolded protein response	biological process	TAS[22013210]	1
GO:1901800	positive regulation of proteasomal protein catabolic process	biological process	IEA	2
GO:0001889	liver development	biological process	ISS	14
GO:0031647	regulation of protein stability	biological process	IDA[25190803]	5
GO:0006990	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response	biological process	IDA[25239945]; ISS	1
GO:2000347	positive regulation of hepatocyte proliferation	biological process	ISS	1
GO:0035924	cellular response to vascular endothelial growth factor stimulus	biological process	IDA[23529610]	2
GO:0042993	positive regulation of transcription factor import into nucleus	biological process	IDA[25190803]	2
GO:0001934	positive regulation of protein phosphorylation	biological process	IDA[25190803]	15

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
XBP1	FOS	NO	in vitro	1903538

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)
rs2269577	chr22:28800769 - 28800769(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
XBP1_-116C>G	point mutation		3 (1/2/0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
25231123	No significant association was found.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 4)

Reference	ID in SZGene	Result Category
15298659	476	Positive
15184063	476	Positive
16958950	476	Negative
16342282	476	Negative

Gene relationship with MDD

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

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

Reference	Description	Category in MDD	Link in MK4MDD
17353912	Selected differentially expressed genes in amygdala	Pos	XBP1

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Region: chr22:28794555..28800597 View in gBrowse