Reviewed, UniProtKB/Swiss-Prot P30518 (V2R_HUMAN)

Names and origin

Protein names

Recommended name:
    Vasopressin V2 receptor
Alternative name(s):
    AVPR V2
    Renal-type arginine vasopressin receptor
    Antidiuretic hormone receptor

Gene names

Name:	AVPR2
Synonyms:	ADHR, DIR, DIR3, V2R

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	371 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
Subcellular location	Cell membrane; Multi-pass membrane protein.
Tissue specificity	Kidney.
Involvement in disease	Defects in AVPR2 are the cause of nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]. This disorder is characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. Defects in AVPR2 are a cause of X-linked nephrogenic diabetes insipidus, type I (NDI) [MIM:304800]. It is characterized by excessive water drinking (polydypsia) and urine excretion (polyuria) and fail to concentrate urine in response to vasopressin. Most cases of NDI appear to have an X-linked recessive pattern of inheritance.
Sequence similarities	Belongs to the G-protein coupled receptor 1 family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Diabetes insipidus Disease mutation
Domain	Transmembrane
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Glycoprotein Lipoprotein Palmitate Phosphoprotein
Gene Ontology (GO)
Biological process	G-protein signaling, coupled to cAMP nucleotide second messenger Traceable author statement. Source: ProtInc activation of adenylate cyclase activity Ref.7 Traceable author statement. Source: ProtInc excretion Ref.10 Traceable author statement. Source: ProtInc hemostasis Traceable author statement. Source: ProtInc
Cellular component	Golgi apparatus Traceable author statement. Source: ProtInc endoplasmic reticulum Traceable author statement. Source: ProtInc endosome Traceable author statement. Source: ProtInc integral to plasma membrane Ref.10 Traceable author statement. Source: ProtInc
Molecular function	vasopressin receptor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 371	371	Vasopressin V2 receptor
Regions
	Topological domain	1 – 38	38	Extracellular Potential
	Transmembrane	39 – 63	25	1 Potential
	Topological domain	64 – 77	14	Cytoplasmic Potential
	Transmembrane	78 – 98	21	2 Potential
	Topological domain	99 – 113	15	Extracellular Potential
	Transmembrane	114 – 135	22	3 Potential
	Topological domain	136 – 159	24	Cytoplasmic Potential
	Transmembrane	160 – 180	21	4 Potential
	Topological domain	181 – 200	20	Extracellular Potential
	Transmembrane	201 – 220	20	5 Potential
	Topological domain	221 – 271	51	Cytoplasmic Potential
	Transmembrane	272 – 293	22	6 Potential
	Topological domain	294 – 308	15	Extracellular Potential
	Transmembrane	309 – 328	20	7 Potential
	Topological domain	329 – 371	43	Cytoplasmic Potential
Amino acid modifications
	Lipidation	341	1	S-palmitoyl cysteine
	Lipidation	342	1	S-palmitoyl cysteine
	Glycosylation	22	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	7	1	T → S: dbSNP rs5196.
	Natural variant	12	1	G → E: dbSNP rs2071126.
	Natural variant	42	1	A → V: dbSNP rs5198.
	Natural variant	43	1	L → P in NDI.
	Natural variant	44	1	L → P in NDI.
	Natural variant	46	1	I → K in NDI.
	Natural variant	53	1	L → R in NDI.
	Natural variant	55	1	N → D in NDI.
	Natural variant	55	1	N → H in NDI.
	Natural variant	59	1	L → P in NDI.
	Natural variant	61	1	A → V
	Natural variant	62 – 64	3	Missing in NDI.
	Natural variant	62	1	L → P in NDI.
	Natural variant	64	1	R → W
	Natural variant	80	1	H → R in NDI.
	Natural variant	81	1	L → F in NDI.
	Natural variant	83	1	L → P in NDI.
	Natural variant	83	1	L → Q in NDI.
	Natural variant	84	1	A → D in NDI.
	Natural variant	85	1	D → N in NDI.
	Natural variant	88	1	V → M in NDI.
	Natural variant	92	1	Q → R in NDI.
	Natural variant	94	1	L → Q in NDI.
	Natural variant	95	1	P → L in NDI.
	Natural variant	99	1	W → R in NDI.
	Natural variant	104	1	R → C in NDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type.
	Natural variant	105	1	F → V in NDI.
	Natural variant	106	1	R → C in NDI.
	Natural variant	107	1	G → E in NDI.
	Natural variant	112	1	C → R in NDI.
	Natural variant	112	1	C → Y in NDI.
	Natural variant	113	1	R → W in NDI. dbSNP rs28935496.
	Natural variant	122	1	G → R in NDI.
	Natural variant	123	1	M → K in NDI.
	Natural variant	126	1	S → F in NDI.
	Natural variant	127	1	S → F in NDI.
	Natural variant	128	1	Y → S in NDI.
	Natural variant	130	1	I → F in NDI.
	Natural variant	132	1	A → D in NDI.
	Natural variant	135	1	L → P in NDI.
	Natural variant	137	1	R → C in NSIAD; constitutively active.
	Natural variant	137	1	R → H in NDI; fails to activate the adenylyl cyclase system.
	Natural variant	137	1	R → L in NSIAD; constitutively active.
	Natural variant	139	1	R → S
	Natural variant	143	1	R → P in NDI.
	Natural variant	147	1	A → V: dbSNP rs5200.
	Natural variant	163	1	A → P in NDI.
	Natural variant	164	1	W → S in NDI.
	Natural variant	167	1	S → L in NDI.
	Natural variant	167	1	S → T in NDI.
	Natural variant	173	1	P → S in NDI.
	Natural variant	174	1	Q → L in NDI.
	Natural variant	181	1	R → C in NDI.
	Natural variant	185	1	G → C in NDI.
	Natural variant	191	1	D → G in NDI.
	Natural variant	201	1	G → D in NDI.
	Natural variant	202	1	R → C in NDI.
	Natural variant	203	1	R → C in NDI.
	Natural variant	204	1	T → N in NDI.
	Natural variant	205	1	Y → C in NDI.
	Natural variant	206	1	V → D in NDI.
	Natural variant	207	1	T → N in NDI.
	Natural variant	209	1	I → F in NDI.
	Natural variant	214	1	F → S in NDI.
	Natural variant	215	1	V → M
	Natural variant	217	1	P → T in NDI.
	Natural variant	219	1	L → P in NDI.
	Natural variant	219	1	L → R in NDI.
	Natural variant	247 – 250	4	Missing in NDI.
	Natural variant	247	1	R → H in a breast cancer sample; somatic mutation.
	Natural variant	252	1	R → W
	Natural variant	272	1	M → K in NDI.
	Natural variant	277	1	V → A in NDI.
	Natural variant	277	1	Missing in CDNI.
	Natural variant	280	1	Y → C in CDNI.
	Natural variant	282	1	L → P in NDI.
	Natural variant	285	1	A → P in CDNI.
	Natural variant	286	1	P → L in NDI.
	Natural variant	286	1	P → R in NDI.