AQP2 - aquaporin 2 Gene
Also Known as NDI2; AQP-CD; WCH-CD
Species: Homo sapiens
About AQP2
This gene has 3 transcripts (splice variants), 168 orthologues, 11 paralogues and is associated with 2 phenotypes. Restricted expression toward kidney (RPKM 245.3).
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 recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
AQP2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000486.6 | NP_000477.1 | aquaporin-2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables glycerol transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
8584435 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25910212 | GOA |
| enables water channel activity |
EXP
EXP: Inferred from Experiment
|
9829975 | GOA |
| enables water channel activity |
IMP
IMP: Inferred from mutant phenotype
|
8140421 | GOA |
| enables water transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
8584435 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in actin filament organization |
IMP
IMP: Inferred from mutant phenotype
|
32176498 | GOA |
| involved in cellular response to copper ion |
IDA
IDA: Inferred from direct assay
|
8584435 | GOA |
| involved in cellular response to mercury ion |
IDA
IDA: Inferred from direct assay
|
8584435 | GOA |
| involved in glycerol transmembrane transport |
IDA
IDA: Inferred from direct assay
|
8584435 | GOA |
| involved in protein homotetramerization |
IDA
IDA: Inferred from direct assay
|
24733887 | GOA |
| involved in renal water homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
8140421 | GOA |
| involved in water transport |
IDA
IDA: Inferred from direct assay
|
8584435 | GOA |
| involved in water transport |
IMP
IMP: Inferred from mutant phenotype
|
8140421 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
15509592 | GOA |
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
15326289 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
22375059 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
9321919 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
8140421 | GOA |
AQP2 Protein Structure
MIP: Major intrinsic protein (3 - 219)
- 0
- 100
- 200
- 271 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aquaporin-2 |
|
AQP2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
AQP2 | P41181 | RTP2 | Homo sapiens | Q5QGT7 | 32296183 | |
|
Intra
|
AQP2 | P41181 | SNAP47 | Homo sapiens | Q5SQN1 | 32296183 | |
|
Intra
|
AQP2 | P41181 | NRM | Homo sapiens | Q8IXM6 | 32296183 | |
|
Intra
|
AQP2 | P41181 | SLC38A7 | Homo sapiens | Q9NVC3 | 32296183 | |
|
Intra
|
AQP2 | P41181 | TMEM109 | Homo sapiens | Q9BVC6 | 32296183 | |
|
Intra
|
AQP2 | P41181 | ERMP1 | Homo sapiens | Q7Z2K6 | 32296183 | |
|
Intra
|
AQP2 | P41181 | GPX8 | Homo sapiens | Q8TED1 | 32296183 | |
|
Intra
|
AQP2 | P41181 | GPX8 | Homo sapiens | Q8TED1 | 32296183 | |
|
Intra
|
AQP2 | P41181 | GPX8 | Homo sapiens | Q8TED1 | 32296183 | |
|
Intra
|
AQP2 | P41181 | TMEM86A | Homo sapiens | Q8N2M4 | 32296183 | |
|
Intra
|
AQP2 | P41181 | MS4A13 | Homo sapiens | Q5J8X5 | 32296183 | |
|
Intra
|
AQP2 | P41181 | TMEM97 | Homo sapiens | Q5BJF2 | 32296183 | |
|
Intra
|
AQP2 | P41181 | SLC26A6 | Homo sapiens | Q9BXS9-3 | 32296183 | |
|
Intra
|
AQP2 | P41181 | SLC26A6 | Homo sapiens | Q9BXS9-3 | 32296183 | |
|
Intra
|
AQP2 | P41181 | SLC26A6 | Homo sapiens | Q9BXS9-3 | 32296183 | |
|
Intra
|
AQP2 | P41181 | OR10AG1 | Homo sapiens | Q8NH19 | 32296183 | |
|
Intra
|
AQP2 | P41181 | TMEM236 | Homo sapiens | Q5W0B7 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PPGB | Homo sapiens | Q59EV6 | 32296183 | |
|
Intra
|
AQP2 | P41181 | MUC1 | Homo sapiens | P15941-11 | 32296183 | |
|
Intra
|
AQP2 | P41181 | MUC1 | Homo sapiens | P15941-11 | 32296183 | |
|
Intra
|
AQP2 | P41181 | LEUTX | Homo sapiens | A8MZ59 | 32296183 | |
|
Intra
|
AQP2 | P41181 | LEUTX | Homo sapiens | A8MZ59 | 32296183 | |
|
Intra
|
AQP2 | P41181 | EFNA5 | Homo sapiens | P52803 | 32296183 | |
|
Intra
|
AQP2 | P41181 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
AQP2 | P41181 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
AQP2 | P41181 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
AQP2 | P41181 | OLFM4 | Homo sapiens | Q6UX06 | 32296183 | |
|
Intra
|
AQP2 | P41181 | LHFPL5 | Homo sapiens | Q8TAF8 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PMP22 | Homo sapiens | Q01453 | 32296183 | |
|
Intra
|
AQP2 | P41181 | TMEM60 | Homo sapiens | Q9H2L4 | 32296183 | |
|
Intra
|
AQP2 | P41181 | FAM3C | Homo sapiens | Q92520 | 32296183 | |
|
Intra
|
AQP2 | P41181 | MRM1 | Homo sapiens | Q6IN84 | 32296183 | |
|
Intra
|
AQP2 | P41181 | MRM1 | Homo sapiens | Q6IN84 | 32296183 | |
|
Intra
|
AQP2 | P41181 | MRM1 | Homo sapiens | Q6IN84 | 32296183 | |
|
Intra
|
AQP2 | P41181 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
AQP2 | P41181 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
AQP2 | P41181 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
AQP2 | P41181 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
AQP2 | P41181 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
AQP2 | P41181 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PANX1 | Homo sapiens | Q96RD7 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PANX1 | Homo sapiens | Q96RD7 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PANX1 | Homo sapiens | Q96RD7 | 32296183 | |
|
Intra
|
AQP2 | P41181 | ERG28 | Homo sapiens | Q9UKR5 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PDZK1IP1 | Homo sapiens | Q13113 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PDZK1IP1 | Homo sapiens | Q13113 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PDZK1IP1 | Homo sapiens | Q13113 | 32296183 | |
|
Intra
|
AQP2 | P41181 | YIPF6 | Homo sapiens | Q96EC8 | 32296183 | |
|
Intra
|
AQP2 | P41181 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
AQP2 | P41181 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
AQP2 | P41181 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
AQP2 | P41181 | INSIG2 | Homo sapiens | Q9Y5U4 | 32296183 | |
|
Intra
|
AQP2 | P41181 | SLC30A2 | Homo sapiens | Q9BRI3 | 32296183 | |
|
Intra
|
AQP2 | P41181 | PNLIPRP1 | Homo sapiens | P54315 | 32296183 |
AQP2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82397 | Aquaporin 2 Antibody (YA2142) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P82397A | Aquaporin 2 Antibody (YA2142)(PBS only) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P84302 | Aquaporin 2 Antibody (YA3999) | WB, ELISA | Human |
| HY-P84302A | Aquaporin 2 Antibody (YA3999)(PBS only) | WB, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
|
| Nephrogenic Diabetes Insipidus |
|
|
| Diabetes Insipidus |
|
|
| Central Diabetes Insipidus |
|
|
| Inappropriate Adh Syndrome |
|
|
| Ureteral Obstruction |
|
|
| Hydronephrosis |
|
|
| Hereditary Nephrogenic Diabetes Insipidus |
|
|
| Hypokalemia |
|
|
| X-Linked Nephrogenic Diabetes Insipidus |
|
|
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
|
| Hepatorenal Syndrome |
|
|
| Liver Cirrhosis |
|
|
| Metabolic Acidosis |
|
|
| Congestive Heart Failure |
|
|
| Central Pontine Myelinolysis |
|
|
| Dipsogenic Diabetes Insipidus |
|
|
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
|
| Diabetes Insipidus, Neurohypophyseal |
|
|
| Kidney Disease |
|
|
| Peripheral Vertigo |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Gestational Diabetes Insipidus |
|
|
| Pyelonephritis |
|
|
| Pendred Syndrome |
|
|
| Urinary Tract Obstruction |
|
|
| Ureteral Disease |
|
|
| Bartter Disease |
|
|
| Meniere Disease |
|
|
| Vestibular Disease |
|
|
| Kidney Papillary Necrosis |
|
|
| Renal Glucosuria |
|
|
| Renal Tubular Transport Disease |
|
|
| Bartter Syndrome, Type 1, Antenatal |
|
|
| Renal Tubular Acidosis |
|
|
| Gitelman Syndrome |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Nephrotic Syndrome |
|
|
| Hypertension, Essential |
|
|
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
|
| Obstructive Nephropathy |
|
|
| Liddle Syndrome 1 |
|
|
| Sleeping Sickness |
|
|
| Cystic Kidney Disease |
|
|
| Chronic Kidney Disease |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Joubert Syndrome 1 |
|
|
| Cataract |
|
|
| Polycystic Kidney Disease |
|
|
| Cakut |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | AQP2 | VGNC | VGNC:26046 |
| Felis catus | AQP2 | VGNC | VGNC:83495 |
| Mus musculus | AQP2 | MGD | MGI:1096865 |
| Macaca mulatta | AQP2 | VGNC | VGNC:99888 |
| Canis familiaris | AQP2 | VGNC | VGNC:38017 |
| Rattus norvegicus | AQP2 | RGD | RGD:2142 |
| Others | AQP2 | NCBI |