• Gene id: 9075

Gene Summary

• Gene Symbol: CLDN2   Gene   UCSC   Ensembl
• Gene name: claudin 2
• Alternate names: claudin-2, SP82,
• Gene location: Xq22.3 (106900163: 106930860)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physio
• OMIM: 300520

Protein Summary

• Protein general information: P57739  
  • Name: Claudin 2 (SP82)
  • Length: 230  
  • Mass: 24549
• Sequence:

  MASLGLQLVGYILGLLGLLGTLVAMLLPSWKTSSYVGASIVTAVGFSKGLWMECATHSTGITQCDIYSTLLGLPA
  DIQAAQAMMVTSSAISSLACIISVVGMRCTVFCQESRAKDRVAVAGGVFFILGGLLGFIPVAWNLHGILRDFYSP
  LVPDSMKFEIGEALYLGIISSLFSLIAGIILCFSCSSQRNRSNYYDAYQAQPLATRSSPRPGQPPKVKSEFNSYS
  LTGYV

• Structural information:
  • Interpro: IPR006187  IPR005411  IPR017974  IPR004031  
  • Prosite: PS01346
  • PDB: 4YYX
  • PDBsum: 4YYX
  • STRING: ENSP00000441283
• Other Databases: GeneCards:  CLDN2  Malacards:  CLDN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	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:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IEA	biological process
GO:0005923	bicellular tight junction	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

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Obstructive azoospermia (OA)	MIK: 31320686
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31320686	Obstructive azoospermia (OA)	c.481G>C; p.Gly161Arg	Iranian	3 familial, 469 (400 ancestry-matched Iranian fertile and 69 unrelated men with idiopathic OA)	Male infertility	NGS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881