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: 10
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: null
ASD Reports: 10
Recent Reports: 0
Annotated variants: 6
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
Polymorphic Variants in Oxytocin and Arginine Vasopressin Receptors in a Pediatric Population with Autism Spectrum Disorder Diagnosis in Mexico
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
Vasopressin V1b receptor knockout reduces aggressive behavior in male mice.
Support
Impaired vasopressin neuromodulation of the lateral septum leads to social behavior deficits in Shank3B+/- male mice
ASD
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.
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
GEN862C006
missense_variant
rs28632197
c.1091G>A
p.Arg364His
75 children with ASD and 71 children with neurotypical development from Mexico.
Replication