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CLDN5 (claudin 5)

Identity

Alias_namesAWAL
TMVCF
transmembrane protein deleted in velocardiofacial syndrome
Alias_symbol (synonym)CPETRL1
BEC1
Other alias
HGNC (Hugo) CLDN5
LocusID (NCBI) 7122
Atlas_Id 49802
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19510547 and ends at 19512860 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CLDN5 (22q11.21) / PTMS (12p13.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Liver: Fibrolamellar carcinoma


External links

Nomenclature
HGNC (Hugo)CLDN5   2047
Cards
Entrez_Gene (NCBI)CLDN5  7122  claudin 5
AliasesAWAL; BEC1; CPETRL1; TMVCF
GeneCards (Weizmann)CLDN5
Ensembl hg19 (Hinxton)ENSG00000184113 [Gene_View]  chr22:19510547-19512860 [Contig_View]  CLDN5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000184113 [Gene_View]  chr22:19510547-19512860 [Contig_View]  CLDN5 [Vega]
ICGC DataPortalENSG00000184113
TCGA cBioPortalCLDN5
AceView (NCBI)CLDN5
Genatlas (Paris)CLDN5
WikiGenes7122
SOURCE (Princeton)CLDN5
Genetics Home Reference (NIH)CLDN5
Genomic and cartography
GoldenPath hg19 (UCSC)CLDN5  -     chr22:19510547-19512860 -  22q11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CLDN5  -     22q11.21   [Description]    (hg38-Dec_2013)
EnsemblCLDN5 - 22q11.21 [CytoView hg19]  CLDN5 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBICLDN5 [Mapview hg19]  CLDN5 [Mapview hg38]
OMIM602101   
Gene and transcription
Genbank (Entrez)AF000959 AK092561 AK124019 AK222466 BC002404
RefSeq transcript (Entrez)NM_001130861 NM_003277
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929429
Consensus coding sequences : CCDS (NCBI)CLDN5
Cluster EST : UnigeneHs.505337 [ NCBI ]
CGAP (NCI)Hs.505337
Alternative Splicing GalleryENSG00000184113
Gene ExpressionCLDN5 [ NCBI-GEO ]   CLDN5 [ EBI - ARRAY_EXPRESS ]   CLDN5 [ SEEK ]   CLDN5 [ MEM ]
Gene Expression Viewer (FireBrowse)CLDN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7122
GTEX Portal (Tissue expression)CLDN5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00501   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00501  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00501
Splice isoforms : SwissVarO00501
PhosPhoSitePlusO00501
Domaine pattern : Prosite (Expaxy)CLAUDIN (PS01346)   
Domains : Interpro (EBI)Claudin    Claudin5    Claudin_CS    PMP22/EMP/MP20/Claudin   
Domain families : Pfam (Sanger)PMP22_Claudin (PF00822)   
Domain families : Pfam (NCBI)pfam00822   
Conserved Domain (NCBI)CLDN5
DMDM Disease mutations7122
Blocks (Seattle)CLDN5
SuperfamilyO00501
Human Protein AtlasENSG00000184113
Peptide AtlasO00501
HPRD03654
IPIIPI00012089   
Protein Interaction databases
DIP (DOE-UCLA)O00501
IntAct (EBI)O00501
FunCoupENSG00000184113
BioGRIDCLDN5
STRING (EMBL)CLDN5
ZODIACCLDN5
Ontologies - Pathways
QuickGOO00501
Ontology : AmiGOoutflow tract morphogenesis  structural molecule activity  cell-cell junction  bicellular tight junction  bicellular tight junction  cell-cell junction assembly  transforming growth factor beta receptor signaling pathway  learning  integral component of membrane  integral component of membrane  apicolateral plasma membrane  calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules  cortical actin cytoskeleton  identical protein binding  palate development  face morphogenesis  extracellular exosome  positive regulation of establishment of endothelial barrier  
Ontology : EGO-EBIoutflow tract morphogenesis  structural molecule activity  cell-cell junction  bicellular tight junction  bicellular tight junction  cell-cell junction assembly  transforming growth factor beta receptor signaling pathway  learning  integral component of membrane  integral component of membrane  apicolateral plasma membrane  calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules  cortical actin cytoskeleton  identical protein binding  palate development  face morphogenesis  extracellular exosome  positive regulation of establishment of endothelial barrier  
Pathways : KEGGCell adhesion molecules (CAMs)    Tight junction    Leukocyte transendothelial migration    Hepatitis C   
NDEx NetworkCLDN5
Atlas of Cancer Signalling NetworkCLDN5
Wikipedia pathwaysCLDN5
Orthology - Evolution
OrthoDB7122
GeneTree (enSembl)ENSG00000184113
Phylogenetic Trees/Animal Genes : TreeFamCLDN5
HOVERGENO00501
HOGENOMO00501
Homologs : HomoloGeneCLDN5
Homology/Alignments : Family Browser (UCSC)CLDN5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLDN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLDN5
dbVarCLDN5
ClinVarCLDN5
1000_GenomesCLDN5 
Exome Variant ServerCLDN5
ExAC (Exome Aggregation Consortium)CLDN5 (select the gene name)
Genetic variants : HAPMAP7122
Genomic Variants (DGV)CLDN5 [DGVbeta]
DECIPHER (Syndromes)22:19510547-19512860  ENSG00000184113
CONAN: Copy Number AnalysisCLDN5 
Mutations
ICGC Data PortalCLDN5 
TCGA Data PortalCLDN5 
Broad Tumor PortalCLDN5
OASIS PortalCLDN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLDN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLDN5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CLDN5
DgiDB (Drug Gene Interaction Database)CLDN5
DoCM (Curated mutations)CLDN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLDN5 (select a term)
intoGenCLDN5
Cancer3DCLDN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602101   
Orphanet
MedgenCLDN5
Genetic Testing Registry CLDN5
NextProtO00501 [Medical]
TSGene7122
GENETestsCLDN5
Huge Navigator CLDN5 [HugePedia]
snp3D : Map Gene to Disease7122
BioCentury BCIQCLDN5
ClinGenCLDN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7122
Chemical/Pharm GKB GenePA26573
Clinical trialCLDN5
Miscellaneous
canSAR (ICR)CLDN5 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLDN5
EVEXCLDN5
GoPubMedCLDN5
iHOPCLDN5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:00:46 CET 2017

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