Reactome | UniProt:O14493 CLDN4

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UniProt:O14493 CLDN4 Show undefined attributes

chain	chain:1-209
checksum	0659A93AA5F0E4C5
comment	FUNCTION Can associate with other claudins to regulate tight junction structural and functional strand dynamics (PubMed:35773259, PubMed:36008380). May coassemble with CLDN8 into tight junction strands containing anion-selective channels that convey paracellular chloride permeability in renal collecting ducts (By similarity) (PubMed:36008380). May integrate into CLDN3 strands to modulate localized tight junction barrier properties (PubMed:35773259, PubMed:36008380). May disrupt strand assembly of channel-forming CLDN2 and CLDN15 and inhibit cation conductance (PubMed:35773259, PubMed:36008380). Cannot form tight junction strands on its own (PubMed:35773259, PubMed:36008380).CATALYTIC ACTIVITY chloride(in) = chloride(out)CATALYTIC ACTIVITY bromide(in) = bromide(out)CATALYTIC ACTIVITY iodide(out) = iodide(in)CATALYTIC ACTIVITY fluoride(in) = fluoride(out)SUBUNIT Can form heteropolymeric strands with other claudins (PubMed:36008380). Interacts with CLDN8 (By similarity). Interacts with CLDN1 (PubMed:20375010). Directly interacts with TJP1/ZO-1 (PubMed:16236711). Interacts with TJP2/ZO-2 and TJP3/ZO-3 (By similarity). Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions (PubMed:16236711).SUBUNIT (Microbial infection) Interacts (via both extracellular domains) with Clostridium perfringens enterotoxin CPE; the interaction may disrupt claudin assembly in tight junctions.INTERACTION Expressed in the lungs from 23 weeks of gestation till birth.PTM Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1.DISEASE CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.SIMILARITY Belongs to the claudin family.CAUTION The intrinsic role of CLDN4 is debated. A function as an inter-claudin regulator has recently been postulated and may well explain both channel-forming and barrier properties inferred by knockout studies.
crossReference	[DatabaseIdentifier:12422355] RefSeq:NP_001296.1 [DatabaseIdentifier:12288388] Pharos - Targets:O14493 [DatabaseIdentifier:12249605] PRO:O14493 [DatabaseIdentifier:12203768] PDB:8U4V [DatabaseIdentifier:12203769] PDB:5B2G [DatabaseIdentifier:12203773] PDB:9CMH [DatabaseIdentifier:12203766] PDB:8U5B [DatabaseIdentifier:12203772] PDB:7TDN [DatabaseIdentifier:12203767] PDB:7KP4 [DatabaseIdentifier:12203771] PDB:9CMI [DatabaseIdentifier:12203770] PDB:7TDM [DatabaseIdentifier:12128164] OpenTargets:ENSG00000189143 [DatabaseIdentifier:11843552] HPA:ENSG00000189143-CLDN4 [DatabaseIdentifier:11790546] GeneCards:CLDN4 [DatabaseIdentifier:11728531] ENSEMBL:ENST00000340958 [DatabaseIdentifier:11728532] ENSEMBL:ENST00000431918 [DatabaseIdentifier:11728530] ENSEMBL:ENST00000435050 [DatabaseIdentifier:11605833] ENSEMBL:ENSP00000342445 [DatabaseIdentifier:11605832] ENSEMBL:ENSP00000388639 [DatabaseIdentifier:11605831] ENSEMBL:ENSP00000409544 [DatabaseIdentifier:11497195] ENSEMBL:ENSG00000189143
databaseName	UniProt
dbId	52238
description	recommendedName: fullName evidence="10"Claudin-4 alternativeName: fullName evidence="12"Clostridium perfringens enterotoxin receptor shortName evidence="12"CPE-R shortName evidence="12"CPE-receptor alternativeName: Williams-Beuren syndrome chromosomal region 8 protein
displayName	UniProt:O14493 CLDN4
geneName	CLDN4 CPER CPETR1 WBSCR8
identifier	O14493
isSequenceChanged	false
keyword	3D-structure Cell junction Cell membrane Chloride Chloride channel Disulfide bond Ion channel Ion transport Membrane Phosphoprotein Proteomics identification Reference proteome Tight junction Transmembrane Transmembrane helix Transport Williams-Beuren syndrome
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	CLDN4
otherIdentifier	11716780_s_at 11744371_s_at 11758355_s_at 1364 1569421_PM_at 1569421_at 17046982 201428_PM_at 201428_at 3007959 3007961 3007962 3007963 3007964 3007965 3007966 3007967 35276_at 8133360 A_14_P101946 A_24_P115183 A_33_P3285545 A_33_P3378272 GE53020 GO:0003014 GO:0004888 GO:0005198 GO:0005254 GO:0005515 GO:0005886 GO:0005911 GO:0005923 GO:0006811 GO:0006821 GO:0007155 GO:0007565 GO:0007623 GO:0009925 GO:0016020 GO:0016324 GO:0016327 GO:0016328 GO:0016338 GO:0022414 GO:0022604 GO:0030335 GO:0032570 GO:0034220 GO:0034330 GO:0034707 GO:0042802 GO:0048856 GO:0055085 GO:0061436 GO:0070160 GO:0070161 GO:0070293 GO:0070830 GO:0090303 GO:0160184 GO:1902476 HMNXSV003010532 HMNXSV003023630 Hs2.352221.1.S1_3p_at ILMN_2132458 PH_hs_0028728 TC07000447.hg g4502876_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-419987] CLDN4 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-421244] CLDN4 [cell junction] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12701104] UCSC:O14493 CLDN4 [ReferenceDNASequence:12112962] OMIM:602909 CLDN4 [ReferenceDNASequence:12076593] NCBI Gene:1364 CLDN4 [ReferenceDNASequence:11992500] Monarch:1364 CLDN4 [ReferenceDNASequence:11901531] KEGG:hsa:1364 CLDN4 [ReferenceDNASequence:11822207] HGNC:2046 CLDN4 [ReferenceDNASequence:11430353] dbSNP Gene:1364 CLDN4 [ReferenceDNASequence:11417987] CTD Gene:1364 CLDN4 [ReferenceDNASequence:11394292] COSMIC - genes:CLDN4 CLDN4 [ReferenceDNASequence:11362711] BioGPS Gene:1364 CLDN4 [ReferenceDNASequence:ensembl:ENSG00000189143] ENSEMBL:ENSG00000189143 CLDN4
referenceTranscript	[ReferenceRNASequence:12603927] RefSeq:NM_001305.5 CLDN4
schemaClass	ReferenceGeneProduct
secondaryIdentifier	CLD4_HUMAN
sequenceLength	209
species	[Species:48887] Homo sapiens
stId	uniprot:O14493
url	http://purl.uniprot.org/uniprot/O14493

Referrals

(interactor)	[UndirectedInteraction:11300789] UniProt:O15552 <-> UniProt:O14493 (IntAct) [UndirectedInteraction:11254467] UniProt:Q7Z5P4 <-> UniProt:O14493 (IntAct) [UndirectedInteraction:11203071] UniProt:Q3SXY8 <-> UniProt:O14493 (IntAct) [UndirectedInteraction:11200019] UniProt:P32942 <-> UniProt:O14493 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-419987] CLDN4 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-421244] CLDN4 [cell junction]