QuickView for Claudin a (gene)

Gene Symbol:

CLDN4 Homo sapiens

Full name:

claudin 4

Synonyms:

CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R, claudin-4, CPE-receptor, Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein

Genomic Location:

Chr 7: 72883129-72884951

Description:

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 protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play...

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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 protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Bos taurus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGANTCA_AP1_C ,  CEBPA_01 ,  TGACCTY_ERR1_Q2 ,  GGGAGGRR_MAZ_Q6 ,  LEF1_Q6 ,  NKX62_Q2 ,  GGGCGGR_SP1_Q6 ,  AP1_Q2_01 ,  TAATTA_CHX10_01 ,  CART1_01 ,  CP2_02 ,  CTTTGT_LEF1_Q2

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Cytogenetic Map:

7q11.23

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