CLDN4

CLDN4
Identifiers
Aliases	CLDN4, CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R, claudin 4
External IDs	OMIM: 602909; MGI: 1313314; HomoloGene: 1000; GeneCards: CLDN4; OMA:CLDN4 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,832,690 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	134,975,788 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; right uterine tube; ; olfactory zone of nasal mucosa; ; skin of abdomen; ; skin of leg; ; minor salivary glands; ; rectum; ; left lobe of thyroid gland; ; mucosa of sigmoid colon; ; right lobe of thyroid gland;
	Top expressed in
	blastocyst; ; transitional epithelium of urinary bladder; ; lip; ; corneal stroma; ; saccule; ; otic placode; ; otic vesicle; ; submandibular gland; ; esophagus; ; duodenum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	structural molecule activity; transmembrane signaling receptor activity; identical protein binding; chloride channel activity; protein binding;
Cellular component	integral component of membrane; cell junction; basal plasma membrane; apicolateral plasma membrane; integral component of plasma membrane; apical plasma membrane; lateral plasma membrane; bicellular tight junction; membrane; plasma membrane; chloride channel complex;
Biological process	response to progesterone; female pregnancy; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; circadian rhythm; establishment of skin barrier; signal transduction; chloride transport; renal absorption; chloride transmembrane transport; ion transport;
	Sources:Amigo / QuickGO
Orthologs
	1364
	12740
	ENSG00000189143
	ENSMUSG00000047501
	O14493
	O35054
	NM_001305
	NM_009903
	NP_001296
	NP_034033
	Wikidata
View/Edit Human	View/Edit Mouse

Claudin 4, also known as CLDN4, is a protein which in humans is encoded by the CLDN4 gene. It belongs to the group of claudins.

This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands 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.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000189143 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047501 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: CLDN4 claudin 4".

External links

Human CLDN4 genome location and CLDN4 gene details page in the UCSC Genome Browser.

References

External links

Further reading