• Gene id: 1364

Gene Summary

• Gene Symbol: CLDN4   Gene   UCSC   Ensembl
• Aliases: CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R
• Gene name: claudin 4
• Alternate names: claudin-4, CPE-receptor, Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein,
• Gene location: 7q11.23 (73830862: 73832692)     Exons: 1     NC_000007.14
• Gene summary(Entrez): The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This
• OMIM: 601987

SNPs

rs587777044

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

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

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs200913791

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

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs138815960

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

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

Protein Summary

• Protein general information: O14493  
  • Name: Claudin 4 (Clostridium perfringens enterotoxin receptor) (CPE R) (CPE receptor) (Williams Beuren syndrome chromosomal region 8 protein)
  • Length: 209  
  • Mass: 22077
• Sequence:

  MASMGLQVMGIALAVLGWLAVMLCCALPMWRVTAFIGSNIVTSQTIWEGLWMNCVVQSTGQMQCKVYDSLLALPQ
  DLQAARALVIISIIVAALGVLLSVVGGKCTNCLEDESAKAKTMIVAGVVFLLAGLMVIVPVSWTAHNIIQDFYNP
  LVASGQKREMGASLYVGWAASGLLLLGGGLLCCNCPPRTDKPYSAKYSAARSAAASNYV

• Structural information:
  • Interpro: IPR006187  IPR003550  IPR017974  IPR004031  
  • Prosite: PS01346
  • PDB: 5B2G
  • PDBsum: 5B2G
  • STRING: ENSP00000409544
• Other Databases: GeneCards:  CLDN4  Malacards:  CLDN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:1905050	positive regulation of metallopeptidase activity	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0090303	positive regulation of wound healing	IMP	biological process
GO:0022604	regulation of cell morphogenesis	IMP	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070293	renal absorption	ISS	biological process
GO:0005254	chloride channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061436	establishment of skin barrier	IMP	biological process
GO:0005887	integral component of plasma membrane	IMP	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:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	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:0032570	response to progesterone	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0007565	female pregnancy	IEA	biological process
GO:0070293	renal absorption	IEA	biological process
GO:0070160	tight junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016327	apicolateral plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0007623	circadian rhythm	IEA	biological process
GO:0016327	apicolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
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
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
pancreatic cancer	PMID:19793693
pancreatic cancer	PMID:19555390
Ovarian cancer	PMID:19555390
pancreatic ductal carcinoma	PMID:15693851
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq