Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	554
Gene name	Arginine vasopressin receptor 2
Gene symbol	AVPR2
Synonyms (NCBI Gene)	ADHRDI1DIRDIR3NDINDI1V2R
Chromosome	X
Chromosome location	Xq28
Summary	This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that incl

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28935496	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894747	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894748	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894749	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894750	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894751	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs104894752	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894753	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, non coding transcript variant
rs104894754	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894755	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894756	G>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894757	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894758	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894759	T>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894760	C>T	Not-provided, pathogenic	Coding sequence variant, intron variant, missense variant
rs104894761	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs193922112	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs193922113	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs193922114	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs193922115	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs193922116	G>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922117	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs193922118	GCCGGAC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922119	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922120	GCT>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs193922121	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922122	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922123	C>A	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs781942628	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs781950164	A>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs796052096	A>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs878853079	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs886040961	C>-	Pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs1057518723	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1064797077	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1557100304	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557100580	->TGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGC	Pathogenic	Intron variant, stop gained, coding sequence variant, inframe indel
rs1557100594	TAC>-	Pathogenic, likely-pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1557100917	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569545523	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569545567	A>G	Pathogenic	Splice acceptor variant, 3 prime UTR variant
rs1603282111	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603282342	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments
MIRT2179161	hsa-miR-3714	CLIP-seq
MIRT2179162	hsa-miR-4323	CLIP-seq
MIRT2179163	hsa-miR-4476	CLIP-seq
MIRT2444509	hsa-miR-1207-5p	CLIP-seq
MIRT2444510	hsa-miR-1909	CLIP-seq
MIRT2444511	hsa-miR-4450	CLIP-seq
MIRT2444512	hsa-miR-4491	CLIP-seq
MIRT2444513	hsa-miR-4514	CLIP-seq
MIRT2444514	hsa-miR-4645-5p	CLIP-seq
MIRT2444515	hsa-miR-4657	CLIP-seq
MIRT2444516	hsa-miR-4667-5p	CLIP-seq
MIRT2444517	hsa-miR-4673	CLIP-seq
MIRT2444518	hsa-miR-4692	CLIP-seq
MIRT2444519	hsa-miR-4700-5p	CLIP-seq
MIRT2444520	hsa-miR-4763-3p	CLIP-seq
MIRT2444521	hsa-miR-4764-5p	CLIP-seq
MIRT2444522	hsa-miR-940	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001992	Process	Regulation of systemic arterial blood pressure by vasopressin	IBA
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IEA
GO:0003092	Process	Renal water retention	TAS	1303257
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005000	Function	Vasopressin receptor activity	IBA
GO:0005000	Function	Vasopressin receptor activity	IDA	1534149, 9322919, 33664408, 33742150
GO:0005000	Function	Vasopressin receptor activity	IEA
GO:0005000	Function	Vasopressin receptor activity	TAS	8882880
GO:0005515	Function	Protein binding	IPI	12409230, 21056967, 23236378, 32296183
GO:0005768	Component	Endosome	IDA	14757828
GO:0005768	Component	Endosome	TAS	10858434
GO:0005783	Component	Endoplasmic reticulum	TAS	10880054
GO:0005794	Component	Golgi apparatus	TAS	10880054
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	33742150
GO:0005886	Component	Plasma membrane	IDA	14757828
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1303257, 10749568
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	10880054
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	1534149, 33742150
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	9224808
GO:0007599	Process	Hemostasis	TAS	10880054
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9322919
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8882880
GO:0021537	Process	Telencephalon development	IEA
GO:0030139	Component	Endocytic vesicle	IDA	14757828
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0032870	Process	Cellular response to hormone stimulus	IBA
GO:0034097	Process	Response to cytokine	IEA
GO:0035811	Process	Negative regulation of urine volume	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	14757828
GO:0070295	Process	Renal water absorption	IDA	19440390
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA

MIM	HGNC	e!Ensembl
300538	897	ENSG00000126895

P30518

Protein name

Vasopressin V2 receptor (V2R) (AVPR V2) (Antidiuretic hormone receptor) (Renal-type arginine vasopressin receptor)

Protein function

Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.

PDB

4JQI , 6NI2 , 6U1N , 7BB6 , 7BB7 , 7DF9 , 7DFA , 7DFB , 7DFC , 7DW9 , 7KH0 , 7R0C , 7R0J , 8GOC , 8I10 , 8JRU , 8JRV , 8WRZ , 8WU1 , 9BT8 , 9CX3 , 9CX9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	54 → 325	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Kidney.

Sequence

MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLA
ALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQM
VGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQ
RNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA
PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTT
ASSSLAKDTSS

Sequence length

371

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Vasopressin-regulated water reabsorption		Vasopressin-like receptors G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) ADORA2B mediated anti-inflammatory cytokines production

208

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AVPR2-related disorder	Pathogenic; Likely pathogenic	rs2521150530, rs2521156768, rs2064966689	RCV003404265 RCV003412272 RCV003393958
Diabetes insipidus, nephrogenic, X-linked	Likely pathogenic; Pathogenic	rs782806507, rs796052096, rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2148514762, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523 View all (25 more)	RCV002488389 RCV000186513 RCV000011582 RCV000011583 RCV000011584 RCV000011585 RCV000011586 RCV000011587 RCV000011588 RCV000011589 RCV000011590 RCV000011591 RCV000011592 RCV000011593 RCV000011594 RCV000011595 RCV000011596 RCV000011597 RCV000011598 RCV000011599 RCV000011600 RCV000258016 RCV003314529 RCV005047531 RCV003484541 RCV003883493 RCV003991247 RCV004556909 RCV000414968 RCV000487458 RCV000505581 RCV002482907 RCV000990990 RCV002499282 RCV000990993 RCV005629586 RCV001281167 RCV001251483 RCV001251468 RCV001290395 RCV001293698
Nephrogenic diabetes insipidus	Likely pathogenic; Pathogenic	rs2148515160, rs2521161799, rs104894749, rs104894756, rs104894760, rs193922112, rs193922113, rs104894761, rs193922114, rs193922115, rs193922116, rs193922117, rs193922118, rs193922119, rs193922120, rs193922121, rs193922122, rs193922123 View all (3 more)	RCV002276249 RCV005245540 RCV000029393 RCV002509150 RCV000029388 RCV000029386 RCV000029387 RCV000029389 RCV000029390 RCV000029391 RCV000029392 RCV000029394 RCV000029395 RCV000029396 RCV000029397 RCV000029398 RCV000029399 RCV000029400
Nephrogenic syndrome of inappropriate antidiuresis	Likely pathogenic; Pathogenic	rs782806507, rs104894753, rs104894756, rs104894760, rs104894761, rs2521152920, rs2521151990, rs193922118, rs781950164	RCV002488389 RCV005049331 RCV001527658 RCV001535853 RCV000011601 RCV000011602 RCV005047531 RCV003336651 RCV002482907 RCV002499282

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign	rs191116415	RCV005923401
Ovarian serous cystadenocarcinoma	Benign	rs191116415	RCV005923402
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs368996823, rs782608859	RCV005930173 RCV005939065
Uterine corpus endometrial carcinoma	Benign	rs191116415	RCV005923403

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenoleukodystrophy	Associate	31027113
Carcinoma Non Small Cell Lung	Associate	16043261
Cysts	Associate	22952279
Diabetes Insipidus	Associate	29991464, 35137152, 35865667
Diabetes Insipidus Nephrogenic	Associate	10526945, 10648821, 11116139, 11868598, 1415251, 14709855, 16361827, 16502494, 16845277, 17101063, 17491025, 17954951, 18323675, 18489790, 19170711 View all (29 more)
Diabetes Insipidus Neurogenic	Associate	19170711, 29991464, 33882907, 35137152
Endometrial Neoplasms	Associate	35880269
Flushing	Associate	14709855
Growth Disorders	Associate	29394883
Hydronephrosis	Associate	14709855, 16502494
Hyponatremia	Associate	26131744, 33125666
Immunologic Deficiency Syndromes	Associate	18489790
Inappropriate ADH Syndrome	Associate	15872203
Multiple Sclerosis	Associate	35905688
Neoplasms	Associate	36998036
Nephrogenic Syndrome of Inappropriate Antidiuresis	Associate	15872203, 20159941, 22956819, 23362144, 26131744, 27117808, 27355191, 32499611
Neuronal intestinal pseudoobstruction	Associate	31577731
Osteoporotic Fractures	Associate	23362144
Polycystic Kidney Autosomal Dominant	Associate	22952279
Polydipsia	Associate	18323675, 33125666, 39648407
Polyuria	Associate	18323675, 39648407
Renal Insufficiency	Associate	29991464
Rotator Cuff Injuries	Associate	30424787
Seizures	Associate	27355191
Small Cell Lung Carcinoma	Associate	15613460, 16043261
Squamous Cell Carcinoma of Head and Neck	Inhibit	36998036
Urinary Retention	Associate	23362144
Weight Gain	Associate	30312418

AVPR2 (arginine vasopressin receptor 2)