GENE NAME | AVPR2 |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000126895 |
ENTREZ ID | 554 |
UNIPROT ACCESSION NUMBER | P30518 |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-382551; hsa04072; R-HSA-5619115; R-HSA-5653656; R-HSA-8856828; R-HSA-388396; R-HSA-1643685; R-HSA-388479; R-HSA-162582; R-HSA-372790; R-HSA-445717; R-HSA-500792; R-HSA-8856825; R-HSA-9036092; R-HSA-9664433; R-HSA-418555; R-HSA-5619102; hsa04080; R-HSA-373076; R-HSA-9660821; R-HSA-199991; hsa04962; R-HSA-432040; R-HSA-5663205; R-HSA-9658195; R-HSA-375276; R-HSA-9662851 |
1 combination linked to AVPR2 | OLI328 |
1 variant linked to AVPR2 | AVPR2:c.236G>C, p.Gly79Ala |
1 disease linked to AVPR2 | Amyotrophic lateral sclerosis |