• Gene id: 362

Gene Summary

• Gene Symbol: AQP5   Gene   UCSC   Ensembl
• Aliases: AQP-5, PPKB
• Gene name: aquaporin 5
• Alternate names: aquaporin-5,
• Gene location: 12q13.12 (49961495: 49965681)     Exons: 5     NC_000012.12
• Gene summary(Entrez): Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, A
• OMIM: 600442

SNPs

rs28368082

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

NC_000020.11   g.57335452C>T
NC_000020.10   g.55910508C>T
XM_005260382.4   c.631C>T
XM_005260382.1   c.631C>T
XM_005260379.3   c.631C>T
XM_005260379.1   c.631C>T
XM_005260380.3   c.631C>T
XM_005260380.1   c.631C>T
XM_005260381.3   c.631C>T
XM_005260381.1   c.631C>T
NM_0  

rs28368064

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

NC_000020.11   g.57330052G>A
NC_000020.11   g.57330052G>T
NC_000020.10   g.55905108G>A
NC_000020.10   g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11
LOC105372687   105372687

rs28368062

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

NC_000020.11   g.57329973A>C
NC_000020.11   g.57329973A>G
NC_000020.11   g.57329973A>T
NC_000020.10   g.55905029A>C
NC_000020.10   g.55905029A>G
NC_000020.10   g.55905029A>T
XM_005260382.4   c.106A>C
XM_005260382.4   c.106A>G
XM_005260382.4   c.106A>T
XM_005260382.1   c

rs3736832

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

NC_000020.11   g.57333213A>G
NC_000020.10   g.55908269A>G
XM_005260382.4   c.271A>G
XM_005260382.1   c.271A>G
XM_005260379.3   c.271A>G
XM_005260379.1   c.271A>G
XM_005260380.3   c.271A>G
XM_005260380.1   c.271A>G
XM_005260381.3   c.271A>G
XM_005260381.1   c.271A>G
NM_0  

Protein Summary

• Protein general information: P55064  
  • Name: Aquaporin 5 (AQP 5)
  • Length: 265  
  • Mass: 28,292
• Sequence:

  MKKEVCSVAFLKAVFAEFLATLIFVFFGLGSALKWPSALPTILQIALAFGLAIGTLAQALGPVSGGHINPAITLA
  LLVGNQISLLRAFFYVAAQLVGAIAGAGILYGVAPLNARGNLAVNALNNNTTQGQAMVVELILTFQLALCIFAST
  DSRRTSPVGSPALSIGLSVTLGHLVGIYFTGCSMNPARSFGPAVVMNRFSPAHWVFWVGPIVGAVLAAILYFYLL
  FPNSLSLSERVAIIKGTYEPDEDWEEQREERKKTMELTTR

• Structural information:
  • Interpro: IPR023271  IPR023276  IPR034294  IPR000425  IPR022357  
  • Prosite: PS00221
  • CDD: cd00333
  • PDB: 3D9S 5C5X 5DYE
  • PDBsum: 3D9S 5C5X 5DYE
  • DIP: 46292
  • STRING: ENSP00000293599
• Other Databases: GeneCards:  AQP5  Malacards:  AQP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0006833	water transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0009992	cellular water homeostasis	IBA	biological process
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	IDA	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	IBA	molecular function
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0015793	glycerol transport	IEA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030157	pancreatic juice secretion	IEP	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0042476	odontogenesis	IEP	biological process
GO:0046541	saliva secretion	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005215	transporter activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006833	water transport	IEA	biological process
GO:0006833	water transport	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0009992	cellular water homeostasis	IBA	biological process
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	IDA	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	TAS	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	IBA	molecular function
GO:0015670	carbon dioxide transport	IEA	biological process
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0015793	glycerol transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030157	pancreatic juice secretion	IEP	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0042476	odontogenesis	IEP	biological process
GO:0046541	saliva secretion	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006833	water transport	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0009992	cellular water homeostasis	IBA	biological process
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	IDA	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	TAS	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	IBA	molecular function
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030157	pancreatic juice secretion	IEP	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0042476	odontogenesis	IEP	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04970	Salivary secretion

Diseases

Associated diseases	References
Coronary heart disease	GAD: 18846354
Cardiovascular disease	GAD: 18846354
Endometriosis	INFBASE: 19931078
Female infertility	INFBASE: 19931078
Male factor infertility	MIK: 17928628
Azoospermia	MIK: 17928628
Chronic obstructive pulmonary disease (COPD)	GAD: 18853286
Palmoplantar keratoderma	KEGG: H01673
Azoospermia	MIK: 17928628
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17928628	Azoospermia				Male infertility	CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq