CLDN4

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.

CLDN4
Identifiers
Aliases	CLDN4, CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R, claudin 4
External IDs	OMIM: 602909 MGI: 1313314 HomoloGene: 1000 GeneCards: CLDN4
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 73,799,542 bp[1] End 73,832,693 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.9 cM Start 134,945,119 bp[2] End 134,946,934 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • structural molecule activity • transmembrane signaling receptor activity • identical protein binding • chloride channel activity • GO:0001948 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 • cell 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
Species	Human	Mouse
Entrez	1364	12740
Ensembl	ENSG00000189143	ENSMUSG00000047501
UniProt	O14493	O35054
RefSeq (mRNA)	NM_001305	NM_009903
RefSeq (protein)	NP_001296	NP_034033
Location (UCSC)	Chr 7: 73.8 – 73.83 Mb	Chr 5: 134.95 – 134.95 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000189143 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047501 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CLDN4 claudin 4".

External links

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

Further reading

• Kniesel U, Wolburg H (2000). "Tight junctions of the blood–brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMID 10690502.
• Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–8. doi:10.1034/j.1600-0854.2001.020203.x. PMID 11247307.
• Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. doi:10.1038/35067088. PMID 11283726.
• Tsukita S, Furuse M (2003). "Claudin-based barrier in simple and stratified cellular sheets". Curr. Opin. Cell Biol. 14 (5): 531–6. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
• González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.
• Katahira J, Inoue N, Horiguchi Y, et al. (1997). "Molecular cloning and functional characterization of the receptor for Clostridium perfringens enterotoxin". J. Cell Biol. 136 (6): 1239–47. doi:10.1083/jcb.136.6.1239. PMC 2132509. PMID 9087440.
• Katahira J, Sugiyama H, Inoue N, et al. (1997). "Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo". J. Biol. Chem. 272 (42): 26652–8. doi:10.1074/jbc.272.42.26652. PMID 9334247.
• Paperna T, Peoples R, Wang YK, et al. (1999). "Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion". Genomics. 54 (3): 453–9. doi:10.1006/geno.1998.5619. PMID 9878248.
• Morita K, Furuse M, Fujimoto K, Tsukita S (1999). "Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 511–6. doi:10.1073/pnas.96.2.511. PMC 15167. PMID 9892664.
• Itoh M, Furuse M, Morita K, et al. (2000). "Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins". J. Cell Biol. 147 (6): 1351–63. doi:10.1083/jcb.147.6.1351. PMC 2168087. PMID 10601346.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Colegio OR, Van Itallie C, Rahner C, Anderson JM (2003). "Claudin extracellular domains determine paracellular charge selectivity and resistance but not tight junction fibril architecture". Am. J. Physiol., Cell Physiol. 284 (6): C1346–54. doi:10.1152/ajpcell.00547.2002. PMID 12700140.
• Katoh M, Katoh M (2004). "CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family". Int. J. Mol. Med. 11 (6): 683–9. doi:10.3892/ijmm.11.6.683. PMID 12736707.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
• Michl P, Barth C, Buchholz M, et al. (2003). "Claudin-4 expression decreases invasiveness and metastatic potential of pancreatic cancer". Cancer Res. 63 (19): 6265–71. PMID 14559813.
• Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS (2015). "A systems proteomics view of the endogenous human claudin protein family". J Proteome Res. 15 (2): 339–59. doi:10.1021/acs.jproteome.5b00769. PMC 4777318. PMID 26680015.