• Gene id: 653437

Gene Summary

• Gene Symbol: AQP12B   Gene   UCSC   Ensembl
• Aliases: INSSA3
• Gene name: aquaporin 12B
• Alternate names: aquaporin-12B, AQP-12B, insulin synthesis associated 3,
• Gene location: 2q37.3 (240685742: 240676417)     Exons: 7     NC_000002.12
• OMIM: 615097

Protein Summary

• Protein general information: A6NM10  
  • Name: Aquaporin 12B (AQP 12B)
  • Length: 295  
  • Mass: 31475
• Sequence:

  MAGLNVSLSFFFATFTLCEAARRASKALLPVGAYEVFAREAMRTLVELGPWAGDFGPDLLLTLLFLLFLAHGVTL
  DGASANPTVSLQEFLMAEESLPGTLLKLAAQGLGMQAACTLTRLCWAWELSDLHLLQSLMAQSCSSALRTSVPHG
  ALVEAACAFCFHLTLLHLRHSPPAYSGPAVALLVTVTAYTAGPFTSAFFNPALAASVTFACSGHTLLEYVQVYWL
  GPLTGMVLAVLLHQGRLPHLFQRNLFYGQKNKYRAPRGKPAPASGDTQTPAKGSSVREPGRSGVEGPHSS

• Structural information:
  • Interpro: IPR023271  IPR016697  IPR023265  IPR000425  
  • STRING: ENSP00000384894
• Other Databases: GeneCards:  AQP12B  Malacards:  AQP12B

Gene ontology

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq