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Gene id

1366

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CLDN7 Gene UCSC Ensembl

Aliases

CEPTRL2, CLDN-7, CPETRL2, Hs.84359, claudin-1

Gene name

claudin 7

Alternate names

claudin-7, clostridium perfringens enterotoxin receptor-like 2,

Gene location

17p13.1 (7263192: 7259902) Exons: 5 NC_000017.11

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 paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]

OMIM

609131

SNPs

rs222857

Strand: +   Allele origin: unknown  Allele change: A/C/G/T   Mutation type: snp


NC_000017.10   g.7164563C>A
NC_000017.10   g.7164563C>G
NC_000017.10   g.7164563C>T
NC_000017.11   g.7261244C>A
NC_000017.11   g.7261244C>G
NC_000017.11   g.7261244C>T
NM_001185022.1   c.224-259G>A
NM_001185022.1   c.224-259G>C
NM_001185022.1   c.224-259G>T
NM_001185023.1

Protein Summary

Protein general information

O95471

Name: Claudin 7 (CLDN 7)

Length: 211 Mass: 22,418

Tissue specificity: Expressed in kidney, lung and prostate. Isoform 1 seems to be predominant, except in some normal prostate samples, where isoform 2 is the major form. Down-regulated in breast cancers, including ductal carcinoma in situ (DCIS), lobular

Sequence

MANSGLQLLGFSMALLGWVGLVACTAIPQWQMSSYAGDNIITAQAMYKGLWMDCVTQSTGMMSCKMYDSVLALSA
ALQATRALMVVSLVLGFLAMFVATMGMKCTRCGGDDKVKKARIAMGGGIIFIVAGLAALVACSWYGHQIVTDFYN
PLIPTNIKYEFGPAIFIGWAGSALVILGGALLSCSCPGNESKAGYRVPRSYPKSNSSKEYV

Structural information

Interpro:	IPR006187 IPR003552 IPR017974 IPR004031
Prosite:	PS01346
Pfam:	PF00822
MINT:	1452252
STRING:	ENSP00000353475;

Other Databases

GeneCards: CLDN7; Malacards: CLDN7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002230	positive regulation of de fense response to virus b y host	IMP	biological_process
GO:0005198	structural molecule activ ity	IEA	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	ISS	cellular_component
GO:0007162	negative regulation of ce ll adhesion	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0016327	apicolateral plasma membr ane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0016338	calcium-independent cell- cell adhesion via plasma membrane cell-adhesion mo lecules	ISS	biological_process
GO:0032463	negative regulation of pr otein homooligomerization	IEA	biological_process
GO:0042802	identical protein binding	ISS	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0050839	cell adhesion molecule bi nding	IEA	molecular_function
GO:0098792	xenophagy	IMP	biological_process
GO:2000147	positive regulation of ce ll motility	IEA	biological_process
GO:0002230	positive regulation of de fense response to virus b y host	IMP	biological_process
GO:0005198	structural molecule activ ity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	ISS	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0007162	negative regulation of ce ll adhesion	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0016327	apicolateral plasma membr ane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0016338	calcium-independent cell- cell adhesion via plasma membrane cell-adhesion mo lecules	ISS	biological_process
GO:0030054	cell junction	IEA	cellular_component
GO:0032463	negative regulation of pr otein homooligomerization	IEA	biological_process
GO:0042802	identical protein binding	ISS	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0050839	cell adhesion molecule bi nding	IEA	molecular_function
GO:0098792	xenophagy	IMP	biological_process
GO:2000147	positive regulation of ce ll motility	IEA	biological_process
GO:0002230	positive regulation of de fense response to virus b y host	IMP	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	ISS	cellular_component
GO:0016338	calcium-independent cell- cell adhesion via plasma membrane cell-adhesion mo lecules	ISS	biological_process
GO:0042802	identical protein binding	ISS	molecular_function
GO:0098792	xenophagy	IMP	biological_process

KEGG pathways

hsa04514  Cell adhesion molecules
hsa05160  Hepatitis C
hsa04670  Leukocyte transendothelial migration
hsa04530  Tight junction

Diseases

Associated diseases	References
Endometriosis	PMID: 18850381
Endometriosis	INFBASE18850381

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18850381	Endometrio sis					claudin-3 claudin-4 claudin-7 claudin-5	Show abstract