AVPR2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AVPR2 (HGNC:897) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- arginine vasopressin receptor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DIR3, DIR
- Alias symbols
- V2R
- %HI
- 12.7(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.56(Read more about gnomAD pLI score)
- LOEUF
- 0.72(Read more about gnomAD LOEUF score)
- Cytoband
- Xq28
- Genomic Coordinates
-
GRCh37/hg19: chrX:153168079-153172620 NCBI Ensembl UCSC GRCh38/hg38: chrX:153902625-153907166 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000054.7 ENST00000646375.2 (Read more about MANE Select)
- Function
- Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. {ECO:0000269|PubMed:19440390}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- diabetes insipidus, nephrogenic, X-linked Monarch
-
PUBMED:
10820168
Arthus et al. 2000 performed full gene sequencing on 117 families with nephrogenic diabetes insipidus (NDI) and identified 82 different variants in the AVPR2 gene (40 missense, 10 nonsense, 24 deletions, 7 insertions, and 1 splice-site). At least four of the patients were found to have de novo truncating variants.
-
PUBMED:
23150186
Sasaki et al. (2013) performed full gene sequencing for AVPR2 and AQP2 in 78 Japanese families with NDI, 62 families of which were newly described in this paper (the 16 remaining families were described in prior publications). A total of 52 unique AVPR2 variants (28 missense, 4 nonsense, 13 deletions, 5 insertions, and 2 splicing) were identified in these 62 newly described families. While specific details are not provided for all families, at least some of the affected males inherited the AVPR2 variant from a symptomatic mother providing some of evidence of segregation for the variants.
-
PUBMED:
29594432
Joshi et al. (2018) performed bi-directional sequencing of the coding regions of AVPR2 on 19 families with NDI and identified 16 unique AVPR2 variants. Of the 16 AVPR2 variants, 5 were truncating variants (3 frameshift and 2 nonsense) observed in 7 affected probands. Although each 7 probands with truncating variants were affected with NDI, the variants were also observed in unaffected females in 5 of the families (not uncommon for this condition).
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.