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	359
Gene name	Aquaporin 2
Gene symbol	AQP2
Synonyms (NCBI Gene)	AQP-CDNDI2WCH-CD
Chromosome	12
Chromosome location	12q13.12
Summary	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931580	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894336	C>G	Pathogenic	Coding sequence variant, missense variant
rs772201159	AACTGGCCACAGGCCCTGCCCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

122

Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT491675	hsa-miR-4779	PAR-CLIP	23592263
MIRT491674	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT491673	hsa-miR-4734	PAR-CLIP	23592263
MIRT491672	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT491671	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT491670	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491669	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491668	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT491666	hsa-miR-8085	PAR-CLIP	23592263
MIRT491667	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT491675	hsa-miR-4779	PAR-CLIP	23592263
MIRT491674	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT491673	hsa-miR-4734	PAR-CLIP	23592263
MIRT491672	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT491671	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT491670	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491669	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491668	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT491666	hsa-miR-8085	PAR-CLIP	23592263
MIRT491667	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT791443	hsa-miR-1193	CLIP-seq
MIRT791444	hsa-miR-1252	CLIP-seq
MIRT791445	hsa-miR-1262	CLIP-seq
MIRT791446	hsa-miR-1273f	CLIP-seq
MIRT791447	hsa-miR-129-5p	CLIP-seq
MIRT791448	hsa-miR-1324	CLIP-seq
MIRT791449	hsa-miR-140-3p	CLIP-seq
MIRT791450	hsa-miR-143	CLIP-seq
MIRT791451	hsa-miR-181a	CLIP-seq
MIRT791452	hsa-miR-181b	CLIP-seq
MIRT791453	hsa-miR-181c	CLIP-seq
MIRT791454	hsa-miR-181d	CLIP-seq
MIRT791455	hsa-miR-1827	CLIP-seq
MIRT791456	hsa-miR-185	CLIP-seq
MIRT791457	hsa-miR-192	CLIP-seq
MIRT791458	hsa-miR-197	CLIP-seq
MIRT791459	hsa-miR-215	CLIP-seq
MIRT791460	hsa-miR-216a	CLIP-seq
MIRT791461	hsa-miR-216b	CLIP-seq
MIRT791462	hsa-miR-2355-5p	CLIP-seq
MIRT791463	hsa-miR-3127-5p	CLIP-seq
MIRT791464	hsa-miR-3134	CLIP-seq
MIRT791465	hsa-miR-3145-5p	CLIP-seq
MIRT791466	hsa-miR-3166	CLIP-seq
MIRT791467	hsa-miR-345	CLIP-seq
MIRT791468	hsa-miR-3653	CLIP-seq
MIRT791469	hsa-miR-3658	CLIP-seq
MIRT791470	hsa-miR-3919	CLIP-seq
MIRT791471	hsa-miR-3941	CLIP-seq
MIRT791472	hsa-miR-4262	CLIP-seq
MIRT791473	hsa-miR-4302	CLIP-seq
MIRT791474	hsa-miR-4306	CLIP-seq
MIRT791475	hsa-miR-4436b-3p	CLIP-seq
MIRT791476	hsa-miR-4477a	CLIP-seq
MIRT791477	hsa-miR-4534	CLIP-seq
MIRT791478	hsa-miR-4644	CLIP-seq
MIRT791479	hsa-miR-466	CLIP-seq
MIRT791480	hsa-miR-4672	CLIP-seq
MIRT791481	hsa-miR-4701-3p	CLIP-seq
MIRT791482	hsa-miR-4708-5p	CLIP-seq
MIRT791483	hsa-miR-4712-3p	CLIP-seq
MIRT791484	hsa-miR-4753-3p	CLIP-seq
MIRT791485	hsa-miR-4761-3p	CLIP-seq
MIRT791486	hsa-miR-4770	CLIP-seq
MIRT791487	hsa-miR-501-5p	CLIP-seq
MIRT791488	hsa-miR-555	CLIP-seq
MIRT791489	hsa-miR-582-5p	CLIP-seq
MIRT791490	hsa-miR-9	CLIP-seq
MIRT791491	hsa-miR-942	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT1933475	hsa-miR-2110	CLIP-seq
MIRT1933476	hsa-miR-3150a-3p	CLIP-seq
MIRT1933477	hsa-miR-3175	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT1933479	hsa-miR-4260	CLIP-seq
MIRT1933480	hsa-miR-4459	CLIP-seq
MIRT1933481	hsa-miR-4651	CLIP-seq
MIRT791482	hsa-miR-4708-5p	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT1933483	hsa-miR-4789-5p	CLIP-seq
MIRT1933484	hsa-miR-608	CLIP-seq
MIRT1933485	hsa-miR-665	CLIP-seq
MIRT1933486	hsa-miR-939	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT2173541	hsa-miR-1294	CLIP-seq
MIRT2173542	hsa-miR-1470	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT2173543	hsa-miR-2114	CLIP-seq
MIRT2173544	hsa-miR-342-5p	CLIP-seq
MIRT2173545	hsa-miR-3614-3p	CLIP-seq
MIRT2173546	hsa-miR-3684	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT2173547	hsa-miR-4264	CLIP-seq
MIRT2173548	hsa-miR-4450	CLIP-seq
MIRT2173549	hsa-miR-4533	CLIP-seq
MIRT1933481	hsa-miR-4651	CLIP-seq
MIRT2173550	hsa-miR-4664-5p	CLIP-seq
MIRT2173551	hsa-miR-4667-3p	CLIP-seq
MIRT2173552	hsa-miR-4710	CLIP-seq
MIRT2173553	hsa-miR-4747-5p	CLIP-seq
MIRT2173554	hsa-miR-4755-3p	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT791489	hsa-miR-582-5p	CLIP-seq
MIRT1933484	hsa-miR-608	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq
MIRT2384342	hsa-miR-3612	CLIP-seq
MIRT2384343	hsa-miR-4443	CLIP-seq
MIRT2384344	hsa-miR-4717-5p	CLIP-seq
MIRT2384345	hsa-miR-4802-5p	CLIP-seq
MIRT2384346	hsa-miR-650	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	IEA
GO:0003091	Process	Renal water homeostasis	IMP	8140421
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003097	Process	Renal water transport	IEA
GO:0005372	Function	Water transmembrane transporter activity	IDA	8584435, 9321919
GO:0005515	Function	Protein binding	IPI	25910212, 32176498, 32296183, 36117171
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9321919, 24733887
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8140421
GO:0005886	Component	Plasma membrane	TAS
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IDA	8584435, 9321919
GO:0006833	Process	Water transport	IEA
GO:0006833	Process	Water transport	IMP	8140421
GO:0007015	Process	Actin filament organization	IMP	32176498
GO:0015168	Function	Glycerol transmembrane transporter activity	IDA	8584435
GO:0015250	Function	Water channel activity	EXP	9829975, 11076974
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IEA
GO:0015250	Function	Water channel activity	IMP	8140421
GO:0015267	Function	Channel activity	IEA
GO:0015793	Process	Glycerol transmembrane transport	IDA	8584435
GO:0016020	Component	Membrane	IDA	22375059
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	15509592, 16928804
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042631	Process	Cellular response to water deprivation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051289	Process	Protein homotetramerization	IDA	24733887
GO:0055037	Component	Recycling endosome	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289, 16501490
GO:0071280	Process	Cellular response to copper ion	IDA	8584435
GO:0071288	Process	Cellular response to mercury ion	IDA	8584435
GO:0072205	Process	Metanephric collecting duct development	IEA
GO:0098576	Component	Lumenal side of membrane	IEA

MIM	HGNC	e!Ensembl
107777	634	ENSG00000167580

P41181

Protein name

Aquaporin-2 (AQP-2) (ADH water channel) (Aquaporin-CD) (AQP-CD) (Collecting duct water channel protein) (WCH-CD) (Water channel protein for renal collecting duct)

Protein function

Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:15509592, PubMed:7510718, PubMed:7524315

PDB

4NEF , 4OJ2 , 6QF5 , 8GCL , 8GHJ , 8OEE , 8VVX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00230	MIP	3 → 219	Major intrinsic protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in collecting tubules in kidney medulla (at protein level) (PubMed:7510718). Detected in kidney (PubMed:7510718). {ECO:0000269|PubMed:7510718}.

Sequence

MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALG
HISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNA
LSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTG
CSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA

Sequence length

271

Interactions

View interactions

	KEGG		Reactome
	Vasopressin-regulated water reabsorption		Vasopressin regulates renal water homeostasis via Aquaporins Passive transport by Aquaporins

220

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diabetes insipidus	Likely pathogenic; Pathogenic	rs104894330	RCV004798738
Diabetes insipidus, nephrogenic, autosomal	Likely pathogenic; Pathogenic	rs1303076207, rs1481158831, rs745861885, rs1337669269, rs755694590, rs752623874, rs370879515, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332 View all (16 more)	RCV005006039 RCV002507699 RCV002498061 RCV002052161 RCV002502089 RCV005010982 RCV004563299 RCV000019406 RCV000019407 RCV000019409 RCV000019410 RCV000019411 RCV000019412 RCV000019413 RCV000019414 RCV000019415 RCV000019417 RCV000019418 RCV000019419 RCV000019420 RCV000019421 RCV000019422 RCV000019423 RCV000494688 RCV002490878 RCV001329304 RCV001329305 RCV005632186 RCV001027983 RCV001281166 RCV001293732
Nephrogenic diabetes insipidus	Likely pathogenic; Pathogenic	rs1481158831, rs1337669269, rs370879515, rs104894328, rs104894329, rs104894334, rs104894341, rs770810694, rs193922494, rs193922495, rs193922496, rs764380594	RCV004017885 RCV005607074 RCV001828217 RCV000029344 RCV005406751 RCV000029343 RCV004782019 RCV001274489 RCV000029341 RCV000029345 RCV000029346 RCV001328238

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AQP2-related disorder	Benign	rs143104356	RCV003950505
Cervical cancer	Uncertain significance	rs775237038	RCV005925727
Hereditary disease	Conflicting classifications of pathogenicity	rs201195539	RCV001824166

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	33494641
Bardet Biedl Syndrome	Associate	27488999
Cakut	Associate	27151922
Carcinoma Renal Cell	Associate	33494641, 35245343, 36117171, 36254092
Colorectal Neoplasms	Associate	29799470
Diabetes Insipidus	Associate	26714855
Diabetes Insipidus Nephrogenic	Associate	14599123, 14709855, 15100362, 16361827, 16845277, 17954951, 19293543, 19461158, 20733335, 22474537, 26180540, 26714855, 27117808, 29799470, 29996815 View all (5 more)
Distal Myopathies	Associate	32130259
Edema	Associate	26261083
Endocrine System Diseases	Associate	26180540
Essential Hypertension	Associate	22452789, 37223008
Fibrosis	Associate	17763164
Gastrointestinal Diseases	Associate	26358256
Glaucoma Angle Closure	Stimulate	33616622
Glaucoma Open Angle	Stimulate	33616622
Glycogen Storage Disease	Associate	36613675
Hematologic Diseases	Associate	26358256
Hypernatremia	Associate	34177810
Hypertension	Associate	17654319, 17763164
Inflammation	Associate	33494641
Keratoderma Palmoplantar	Associate	29799470
Kidney Diseases	Associate	27151922
Kidney Failure Chronic	Associate	17763164
Liver Diseases Alcoholic	Associate	29474507
Lung Neoplasms	Associate	24643204, 26358256
Lymphoblastic Transformation Inhibition of	Associate	36117171
Neoplasms	Associate	36117171
Nephrogenic Syndrome of Inappropriate Antidiuresis	Associate	27117808
Nephrotic Syndrome	Associate	26261083
Neurologic Manifestations	Associate	15100362
Ovarian Neoplasms	Associate	29472315
Periodontitis	Associate	32130259
Polydipsia	Associate	15100362
Polyuria	Associate	15100362
Pre Eclampsia	Associate	28764583
Renal Insufficiency Chronic	Associate	17763164
Sepsis	Associate	33494641
Syndrome	Associate	27151922
Urinary Tract Infections	Associate	32779125
Waterborne Diseases	Associate	19461158

AQP2 (aquaporin 2)