AVPR1A (arginine vasopressin receptor 1A)

2014-06-01  

Identity

HGNC
LOCATION
12q14.2
LOCUSID
ALIAS
AVPR

Other Information

Locus ID:

NCBI: 552
MIM: 600821
HGNC: 895
Ensembl: ENSG00000166148

Variants:

dbSNP: 552
ClinVar: 552
TCGA: ENSG00000166148
COSMIC: AVPR1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166148ENST00000299178P37288
ENSG00000166148ENST00000299178X5D2B0
ENSG00000166148ENST00000550940F8VW98

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
Vasopressin-like receptorsREACTOMER-HSA-388479
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
SLC transporter disordersREACTOMER-HSA-5619102
Defective AVP causes neurohypophyseal diabetes insipidus (NDI)REACTOMER-HSA-5619099
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072

References

Pubmed IDYearTitleCitations
187658042008Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans.129
187658042008Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans.129
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
176969962008Individual differences in allocation of funds in the dictator game associated with length of the arginine vasopressin 1a receptor RS3 promoter region and correlation between RS3 length and hippocampal mRNA.77
184909262009Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.73
184909262009Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.73
165208242006Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.64
165208242006Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.64

Citation

Dessen P

AVPR1A (arginine vasopressin receptor 1A)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53983/avpr1a