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CLDN4 claudin 4 [ Homo sapiens (human) ]

Gene ID: 1364, updated on 31-Dec-2019

Summary

Official Symbol
CLDN4provided by HGNC
Official Full Name
claudin 4provided by HGNC
Primary source
HGNC:HGNC:2046
See related
Ensembl:ENSG00000189143 MIM:602909
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPER; CPE-R; CPETR; CPETR1; WBSCR8; hCPE-R
Summary
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. [provided by RefSeq, Sep 2013]
Orthologs

Genomic context

See CLDN4 in Genome Data Viewer
Location:
7q11.23
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73830863..73832693)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73245193..73247015)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene claudin 3 Neighboring gene Sharpr-MPRA regulatory region 14121 Neighboring gene methyltransferase like 27 Neighboring gene transmembrane protein 270

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
Tat tat HIV-1 Tat disrupts and downregulates the tight-junction proteins claudin-1, claudin-3, and claudin-4 in retinal pigment epithelial cells, whereas claudin-2 is upregulated PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
establishment of skin barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of metallopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal absorption ISS
Inferred from Sequence or Structural Similarity
more info
 
response to progesterone IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basal plasma membrane IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
claudin-4
Names
CPE-receptor
Clostridium perfringens enterotoxin receptor 1
Williams-Beuren syndrome chromosomal region 8 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012868.1 RefSeqGene

    Range
    5001..6831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001305.4NP_001296.1  claudin-4

    See identical proteins and their annotated locations for NP_001296.1

    Status: REVIEWED

    Source sequence(s)
    AI560666, AK026651, BC000671, BM768799
    Consensus CDS
    CCDS5560.1
    UniProtKB/Swiss-Prot
    O14493
    UniProtKB/TrEMBL
    Q75L80
    Related
    ENSP00000342445.2, ENST00000340958.3
    Conserved Domains (1) summary
    cl21598
    Location:4170
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    73830863..73832693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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