• Gene id: 10686

Gene Summary

• Gene Symbol: CLDN16   Gene   UCSC   Ensembl
• Aliases: HOMG3, PCLN1
• Gene name: claudin 16
• Alternate names: claudin-16, hypomagnesemia 3, with hypercalciuria and nephrocalcinosis, paracellin-1,
• Gene location: 3q28 (190290360: 190412137)     Exons: 9     NC_000003.12
• Gene summary(Entrez): Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
• OMIM: 603959

Protein Summary

• Protein general information: Q9Y5I7  
  • Name: Claudin 16 (Paracellin 1) (PCLN 1)
  • Length: 305  
  • Mass: 33836
  • Tissue specificity: Kidney-specific, including the thick ascending limb of Henle (TAL).
• Sequence:

  MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCPCCHPDGLLATMRDLL
  QYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWECVTNAFDGIRTCDEYDSILAEHPLKLVVTRA
  LMITADILAGFGFLTLLLGLDCVKFLPDEPYIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIF
  LGIQYKFGWSCWLGMAGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSYSAPRTETAKMYA
  VDTRV

• Structural information:
  • Interpro: IPR006187  IPR003927  IPR017974  IPR004031  
  • Prosite: PS01346
  • DIP: 48951
  • STRING: ENSP00000264734
• Other Databases: GeneCards:  CLDN16  Malacards:  CLDN16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0007155	cell adhesion	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015095	magnesium ion transmembrane transporter activity	TAS	molecular function
GO:0006875	cellular metal ion homeostasis	TAS	biological process
GO:0005923	bicellular tight junction	TAS	cellular component
GO:0007588	excretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:1903830	magnesium ion transmembrane transport	IEA	biological process
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS	biological process
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0042802	identical protein binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa04514	Cell adhesion molecules
hsa05160	Hepatitis C
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Hypomagnesemia	KEGG:H01210
Hypomagnesemia	KEGG:H01210
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)