• Gene id: 375318

Gene Summary

• Gene Symbol: AQP12A   Gene   UCSC   Ensembl
• Aliases: AQP-12, AQP12, AQPX2
• Gene name: aquaporin 12A
• Alternate names: aquaporin-12A, aquaporin 12, aquaporin X2,
• Gene location: 2q37.3 (240691865: 240698482)     Exons: 4     NC_000002.12
• OMIM: 600328

Protein Summary

• Protein general information: Q8IXF9  
  • Name: Aquaporin 12A (AQP 12)
  • Length: 295  
  • Mass: 31475
  • Tissue specificity: Restricted to the pancreas. {ECO
• Sequence:

  MAGLNVSLSFFFATFALCEAARRASKALLPVGAYEVFAREAMRTLVELGPWAGDFGPDLLLTLLFLLFLAHGVTL
  DGASANPTVSLQEFLMAEQSLPGTLLKLAAQGLGMQAACTLMRLCWAWELSDLHLLQSLMAQSCSSALRTSVPHG
  ALVEAACAFCFHLTLLHLRHSPPAYSGPAVALLVTVTAYTAGPFTSAFFNPALAASVTFACSGHTLLEYVQVYWL
  GPLTGMVLAVLLHQGRLPHLFQRNLFYGQKNKYRAPRGKPAPASGDTQTPAKGSSVREPGRSGVEGPHSS

• Structural information:
  • Interpro: IPR023271  IPR016697  IPR023265  IPR000425  
  • STRING: ENSP00000405899
• Other Databases: GeneCards:  AQP12A  Malacards:  AQP12A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015267	channel activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0015267	channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015267	channel activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0015267	channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq