Human Gene CLDN6 (uc002csu.4)
  Description: Homo sapiens claudin 6 (CLDN6), mRNA.
RefSeq Summary (NM_021195): Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010].
Transcript (Including UTRs)
   Position: hg19 chr16:3,064,713-3,068,188 Size: 3,476 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr16:3,065,360-3,066,022 Size: 663 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:3,064,713-3,068,188)mRNA (may differ from genome)Protein (220 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CLD6_HUMAN
DESCRIPTION: RecName: Full=Claudin-6; AltName: Full=Skullin;
FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space (By similarity).
SUBUNIT: Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO- 3 (By similarity).
SUBCELLULAR LOCATION: Cell junction, tight junction (By similarity). Cell membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the claudin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CLDN6
CDC HuGE Published Literature: CLDN6

-  MalaCards Disease Associations
  MalaCards Gene Search: CLDN6
Diseases sorted by gene-association score: monosomy 22 (18), hepatitis c (15), hepatitis c virus (14), hepatitis (13), embryonal testis carcinoma (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.60 RPKM in Testis
Total median expression: 4.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.4060-0.140 Picture PostScript Text
3' UTR -203.22647-0.314 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006187 - Claudin
IPR003925 - Claudin6
IPR017974 - Claudin_CS
IPR004031 - PMP22/EMP/MP20/Claudin

Pfam Domains:
PF00822 - PMP-22/EMP/MP20/Claudin family
PF13903 - PMP-22/EMP/MP20/Claudin tight junction

ModBase Predicted Comparative 3D Structure on P56747
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0016032 viral process
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
GO:0045216 cell-cell junction organization
GO:0046718 viral entry into host cell

Cellular Component:
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016327 apicolateral plasma membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  AY358480 - Homo sapiens clone DNA73736 CLDN6 (UNQ757) mRNA, complete cds.
BC008934 - Homo sapiens claudin 6, mRNA (cDNA clone MGC:2373 IMAGE:2963008), complete cds.
AK075329 - Homo sapiens cDNA PSEC0005 fis, clone NT2RM1000566, highly similar to Claudin-6.
LF210715 - JP 2014500723-A/18218: Polycomb-Associated Non-Coding RNAs.
JD392021 - Sequence 373045 from Patent EP1572962.
JD390682 - Sequence 371706 from Patent EP1572962.
JD202491 - Sequence 183515 from Patent EP1572962.
JD418966 - Sequence 399990 from Patent EP1572962.
JD162547 - Sequence 143571 from Patent EP1572962.
JD410966 - Sequence 391990 from Patent EP1572962.
JD449258 - Sequence 430282 from Patent EP1572962.
JD560344 - Sequence 541368 from Patent EP1572962.
JD562360 - Sequence 543384 from Patent EP1572962.
JD062884 - Sequence 43908 from Patent EP1572962.
JD461955 - Sequence 442979 from Patent EP1572962.
AF125306 - Homo sapiens Skullin 2 mRNA, complete cds.
KJ897961 - Synthetic construct Homo sapiens clone ccsbBroadEn_07355 CLDN6 gene, encodes complete protein.
BT007399 - Homo sapiens claudin 6 mRNA, complete cds.
CS123435 - Sequence 6 from Patent WO2005058362.
JD059043 - Sequence 40067 from Patent EP1572962.
JD316279 - Sequence 297303 from Patent EP1572962.
JD263808 - Sequence 244832 from Patent EP1572962.
LF340562 - JP 2014500723-A/148065: Polycomb-Associated Non-Coding RNAs.
MA446292 - JP 2018138019-A/18218: Polycomb-Associated Non-Coding RNAs.
MA576139 - JP 2018138019-A/148065: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04530 - Tight junction
hsa04670 - Leukocyte transendothelial migration

Reactome (by CSHL, EBI, and GO)

Protein P56747 (Reactome details) participates in the following event(s):

R-HSA-420019 Claudins create paired strands through homophilic and heterophilic cis and trans interactions
R-HSA-420029 Tight junction interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQP9, CLD6_HUMAN, D3DUA5, NM_021195, NP_067018, P56747, UNQ757/PRO1488
UCSC ID: uc002csu.4
RefSeq Accession: NM_021195
Protein: P56747 (aka CLD6_HUMAN)
CCDS: CCDS10488.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_021195.4
exon count: 2CDS single in 3' UTR: no RNA size: 1389
ORF size: 663CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1526.00frame shift in genome: no % Coverage: 98.63
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.