Gene Report

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Basic Info

Approved Symbol	AVPR1B
Previous Symbol	AVPR3
Approved Name	arginine vasopressin receptor 1B
Location	1q32
Position	chr1:206109692-206117699, -1
External Links	HGNC: 896 Entrez Gene: 553 Ensembl: ENSG00000198049 UCSC: uc001hds.2
No. of Studies	4 (Positive: 3; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 4)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Szczepankiewicz, A., 2013	Haplotype: rs28536160 - rs28373064 - rs35369693 (A-G-G ), rs28536160 - rs28373064 - rs35369693 (G-G-G ), rs28536160 - rs28373064 - rs35369693 (G-C-A ), rs28536160 - rs28373064 - rs35369693 (G-G-A )	Polymorphisms of CRHR1 and AVPR1b may modify susceptibility to mood disorders.	Positive	Comment on Study
Leszczynska-Rodziewicz, A., 2012	SNP: rs28373064, rs28536160, rs28632197, rs35369693	Our results suggest possible role of the polymorphisms in the AVPR1b and CRHR1 genes and the etiology of psychotic features in depression in the course of bipolar type I disorder.	Positive	Comment on Study
Leszczynska-Rodziewicz A, 2013		In our study we found no association between melancholic depression and polymorphisms in this gene.	Negative	Comment on Study
Koefoed, P.,2011	SNP: rs33976516	AVPR1B_rs33976516=1 (one indicate heterozygocity)occurred in 46 3-combinations.In 1000 permutation tests, at least one cluster of this type (with at least 37 pseudo-patients) were seen 42 times (p=0.042), two such clusters were seen 3 times (p=0.003), and at least three or more clusters of this type did not occur once(p<0.001).. The present analyses of the combinations of SNP genotypes support a role for both genetic heterogeneity and interactions in the genetic architecture of bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	TAS[7805841]	158
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005080	protein kinase C binding	molecular function	TAS[10858434]	7
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	TAS[7929452]	21
GO:0032870	cellular response to hormone stimulus	biological process	IBA	9
GO:0045907	positive regulation of vasoconstriction	biological process	IBA	12
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	biological process	IBA	3
GO:0005000	vasopressin receptor activity	molecular function	IEA	2
GO:1901652	response to peptide	biological process	IBA	5
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IEA	64
GO:0042277	peptide binding	molecular function	IBA	11
GO:0005768	endosome	cellular component	TAS[10858434]	27
GO:0007202	activation of phospholipase C activity	biological process	TAS[7805841]	15

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
AVPR1B	AVP	NO	in vivo	7929452
AVPR1B	GRK5	NO	in vitro;in vivo	10858434

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs28536160	chr1:206117948 - 206117948(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	3(1/2/0)
rs28632197	chr1:206110373 - 206110373(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	3(0/3/0)
rs35369693	chr1:206116696 - 206116696(1)	intron_variant; missense_variant; non_coding_transcript_variant; upstream_gene_variant	3(0/3/0)
rs28373064	chr1:206117775 - 206117775(1)	upstream_gene_variant	3(0/3/0)
rs33976516	chr1:206110180 - 206110180(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs28750713		chr1:206122388 - 206122388(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1q32.1	chr1:198700000-207100000	2 (1/0/1)
1q31-q32	chr1:185800000-214400000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD
23962971	Polymorphisms of CRHR1 and AVPR1b may modify susceptibility to mood disorders. Gene-gene interaction analysis revealed a significant epistatic interaction between AVPR1b and CRHR1 genes in susceptibility to MDD.	Positive

Reference	Description	Category in MDD	Link in MK4MDD
15094789	In the Swedish sample, we observed significant allele (P=0.02) and genotype (P=0.01) association with SNP AVPR1b-s3, and in the Belgian sample, a borderline significant association with SNP AVPR1b-s5 (P=0.04). In both patient-control samples, the haplotype defined by alleles A-T-C-A-G for the AVPR1b-s SNPs s1-s2-s3-s4-s5 was significantly over-represented in controls compared to patients.	Pos	AVPR1B

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Region: chr1:206109692..206117699 View in gBrowse