AVPR1B
Homo sapiens
Gene Name: arginine vasopressin receptor 1B
Aliases: AVPR3
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Functional-Genetic association
Aliases: AVPR3
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Functional-Genetic association
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: null
ASD Reports: 8
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Family-based association testing in 207 families with an ASD proband identified association between two SNPs in the AVPR1B gene (rs28632197, P=0.006 and rs35369693, p=0.025) and a diagnosis of ASD (Francis et al., 2016). Avpr1b knockout mice exhibit a number of behavioral abnormalities, including abnormalities in social behavior and aggression, some of which were gender-specific (Wersinger et al., 2002; Scattoni et al., 2008; DeVito et al., 2009; Caldwell et al., 2010).
Molecular Function
The protein encoded by this gene acts as receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.
ASD
Positive Association
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
ALTs
Positive Association
Evidence of an association between the vasopressin V1b receptor gene (AVPR1B) and childhood-onset mood disorders.
Childhood-onset mood disorders
Support
Role of the vasopressin 1b receptor in rodent aggressive behavior and synaptic plasticity in hippocampal area CA2.
Support
Vasopressin 1b receptor knock-out impairs memory for temporal order.
Support
Vasopressin V1b receptor knockout reduces aggressive behavior in male mice.
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN862C001
missense_variant
rs28632197
c.1091G>A
p.Arg364His
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Discovery
GEN862C002
missense_variant
rs35369693
c.195G>C
p.Lys65Asn
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Discovery
GEN862C003
intergenic_variant
rs28405931
349 unaffected individuals (143 males, 206 feamles, mean age 22.5 years) recruited from a student population
Discovery
GEN862C004
missense_variant
rs35369693
c.195G>C
p.Lys65Asn
382 families with 464 affected children with childhood-onset mood disorders (i.e., meeting DSM-IV criteria for either depressive or bipolar disorder with onset before 15 years of age) that were recruited from 23 mental health facilities in Hungary
Discovery
GEN862C005
3_prime_UTR_variant
rs33985287
c.*117A>G
382 families with 464 affected children with childhood-onset mood disorders (i.e., meeting DSM-IV criteria for either depressive or bipolar disorder with onset before 15 years of age) that were recruited from 23 mental health facilities in Hungary
Discovery