• Gene id: 9080

Gene Summary

• Gene Symbol: CLDN9   Gene   UCSC   Ensembl
• Gene name: claudin 9
• Alternate names: claudin-9,
• Gene location: 16p13.3 (3012922: 3014504)     Exons: 1     NC_000016.10
• 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: 615799

SNPs

rs143136847

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

Protein Summary

• Protein general information: O95484  
  • Name: Claudin 9
  • Length: 217  
  • Mass: 22848
  • Tissue specificity: Expressed in the liver, in peripheral blood mononuclear cells and hepatocarcinoma cell lines. {ECO
• Sequence:

  MASTGLELLGMTLAVLGWLGTLVSCALPLWKVTAFIGNSIVVAQVVWEGLWMSCVVQSTGQMQCKVYDSLLALPQ
  DLQAARALCVIALLLALLGLLVAITGAQCTTCVEDEGAKARIVLTAGVILLLAGILVLIPVCWTAHAIIQDFYNP
  LVAEALKRELGASLYLGWAAAALLMLGGGLLCCTCPPPQVERPRGPRLGYSIPSRSGASGLDKRDYV

• Structural information:
  • Interpro: IPR006187  IPR003553  IPR017974  IPR004031  
  • Prosite: PS01346
  • PDB: 6OV2 6OV3
  • PDBsum: 6OV2 6OV3
  • STRING: ENSP00000398017
• Other Databases: GeneCards:  CLDN9  Malacards:  CLDN9

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:0005886	plasma membrane	IDA	cellular component
GO:0001618	virus receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0001618	virus receptor activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma 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:0005923	bicellular tight junction	IEA	cellular component
GO:0045216	cell-cell junction organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0120193	tight junction organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
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

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
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)