• Gene id: 359

Gene Summary

• Gene Symbol: AQP2   Gene   UCSC   Ensembl
• Aliases: AQP-CD, WCH-CD
• Gene name: aquaporin 2
• Alternate names: aquaporin-2, ADH water channel, AQP-2, aquaporin 2 (collecting duct), aquaporin-CD, collecting duct water channel protein, water channel protein for renal collecting duct, water-channel aquaporin 2,
• Gene location: 12q13.12 (49950736: 49958877)     Exons: 4     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 107777

SNPs

rs2057951

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

Protein Summary

• Protein general information: P41181  
  • 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)
  • Length: 271  
  • Mass: 28837
  • Tissue specificity: Expressed in collecting tubules in kidney medulla (at protein level) (PubMed
• Sequence:

  MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVAC
  LVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTD
  ERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFP
  PAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA

• Structural information:
  • Interpro: IPR023271  IPR034294  IPR000425  IPR022357  
  • Prosite: PS00221
  • CDD: cd00333
  • PDB: 4NEF 4OJ2 6QF5
  • PDBsum: 4NEF 4OJ2 6QF5
  • STRING: ENSP00000199280
• Other Databases: GeneCards:  AQP2  Malacards:  AQP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015250	water channel activity	IBA	molecular function
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006833	water transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015250	water channel activity	IMP	molecular function
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0006833	water transport	IMP	biological process
GO:0003091	renal water homeostasis	IMP	biological process
GO:0015267	channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006833	water transport	TAS	biological process
GO:0030658	transport vesicle membrane	TAS	cellular component
GO:0030658	transport vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042631	cellular response to water deprivation	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006833	water transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003097	renal water transport	IEA	biological process
GO:0003091	renal water homeostasis	IEA	biological process
GO:0098576	lumenal side of membrane	IEA	cellular component
GO:0072205	metanephric collecting duct development	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0015250	water channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071288	cellular response to mercury ion	IDA	biological process
GO:0015168	glycerol transmembrane transporter activity	IDA	molecular function
GO:0071280	cellular response to copper ion	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0006833	water transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0015793	glycerol transport	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Congenital nephrogenic diabetes insipidus	KEGG:H00252
Congenital nephrogenic diabetes insipidus	KEGG:H00252
nephrogenic diabetes insipidus	PMID:19461158
nephrogenic diabetes insipidus	PMID:19458121
nephrogenic diabetes insipidus	PMID:19293543
nephrogenic diabetes insipidus	PMID:19701945
nephrogenic diabetes insipidus	PMID:19147915
nephrogenic diabetes insipidus	PMID:19585583
nephrogenic diabetes insipidus	PMID:12191971
nephrogenic diabetes insipidus	PMID:18653713
nephrogenic diabetes insipidus	PMID:16845277
Diabetic ketoacidosis	PMID:12021537
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq