• Gene id: 9069

Gene Summary

• Gene Symbol: CLDN12   Gene   UCSC   Ensembl
• Gene name: claudin 12
• Alternate names: claudin-12,
• Gene location: 7q21.13 (90403460: 90415953)     Exons: 4     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellula
• OMIM: 611232

Protein Summary

• Protein general information: P56749  
  • Name: Claudin 12
  • Length: 244  
  • Mass: 27110
• Sequence:

  MGCRDVHAATVLSFLCGIASVAGLFAGTLLPNWRKLRLITFNRNEKNLTVYTGLWVKCARYDGSSDCLMYDTTWY
  SSVDQLDLRVLQFALPLSMLIAMGALLLCLIGMCNTAFRSSVPNIKLAKCLVNSAGCHLVAGLLFFLAGTVSLSP
  SIWVIFYNIHLNKKFEPVFSFDYAVYVTIASAGGLFMTSLILFIWYCTCKSLPSPFWQPLYSHPPSMHTYSQPYS
  ARSRLSAIEIDIPVVSHTT

• Structural information:
  • Interpro: IPR013287  IPR017974  
  • Prosite: PS01346
  • STRING: ENSP00000287916
• Other Databases: GeneCards:  CLDN12  Malacards:  CLDN12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0120192	tight junction assembly	ISS	NOT|biological process
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071944	cell periphery	IEA	cellular component
GO:0070160	tight junction	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042802	identical protein binding	ISS	molecular function
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS	biological process
GO:0005923	bicellular tight junction	ISS	cellular component

Diseases

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