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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	359
Gene name Gene Name - the full gene name approved by the HGNC.	Aquaporin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AQP2
Synonyms (NCBI Gene) Gene synonyms aliases	AQP-CD, NDI2, WCH-CD
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NDI2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(38)

GO ID	Ontology	Definition	Evidence	Reference
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, 32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	9321919
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	24733887
GO:0005887	Component	Integral component of plasma membrane	IMP	8140421
GO:0006833	Process	Water transport	IBA	21873635
GO:0006833	Process	Water transport	IDA	8584435, 9321919
GO:0006833	Process	Water transport	IMP	8140421
GO:0006833	Process	Water transport	TAS
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	21873635
GO:0015250	Function	Water channel activity	IMP	8140421
GO:0015793	Process	Glycerol transport	IDA	8584435
GO:0016020	Component	Membrane	IDA	22375059
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	15509592, 16928804
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030658	Component	Transport vesicle membrane	TAS
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

Protein

UniProt ID

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

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Cardiomyopathy	Cardiomyopathies, Primary, Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)	12145768
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes insipidus	Acquired Nephrogenic Diabetes Insipidus	rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757 View all (33 more)	16121255, 18854434, 20374732, 18653713
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nephrogenic diabetes insipidus	Nephrogenic Diabetes Insipidus, Congenital Nephrogenic Diabetes Insipidus, Nephrogenic Diabetes Insipidus, Type I, Nephrogenic Diabetes Insipidus, Type II, ADH-Resistant Diabetes Insipidus, Nephrogenic diabetes insipidus	rs104894749, rs104894756, rs104894760, rs104894328, rs104894329, rs104894334, rs104894341, rs193922494, rs193922495, rs193922496, rs193922112, rs193922113, rs104894761, rs193922114, rs193922115 View all (10 more)	16121255, 18854434, 18653713, 15509592, 20374732, 24944815, 9302264, 17192724, 9649557, 12191971, 7524315, 9402087, 19701945, 16361827, 27641679 View all (11 more)
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Diabetes Insipidus	diabetes insipidus, nephrogenic, autosomal			GenCC

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining
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)