• Gene id: 23562

Gene Summary

• Gene Symbol: CLDN14   Gene   UCSC   Ensembl
• Aliases: DFNB29
• Gene name: claudin 14
• Alternate names: claudin-14,
• Gene location: 21q22.13 (36576568: 36460620)     Exons: 7     NC_000021.9
• 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: 605608

Protein Summary

• Protein general information: O95500  
  • Name: Claudin 14
  • Length: 239  
  • Mass: 25699
  • Tissue specificity: Liver, kidney. Also found in ear.
• Sequence:

  MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQ
  DLQAARALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNP
  LLPSGMKFEIGQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSV
  TSATHSGYRLNDYV

• Structural information:
  • Interpro: IPR006187  IPR003556  IPR017974  IPR004031  
  • Prosite: PS01346
  • STRING: ENSP00000382090
• Other Databases: GeneCards:  CLDN14  Malacards:  CLDN14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0070830	bicellular tight junction assembly	IBA	biological process
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:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	HDA	cellular component
GO:0005923	bicellular tight junction	ISS	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:0005886	plasma membrane	HDA	cellular component

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
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq