Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLDN19 Gene

protein-coding   GIFtS: 59
GCID: GC01M043174

claudin 19
 Explore 11 diseases affiliated with
CLDN19 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CLDN19    

Aliases
for CLDN19 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Claudin 191 2
HOMG52
Claudin-191

External Ids:    HGNC: 20401   Entrez Gene: 1494612   Ensembl: ENSG000001640077   OMIM: 6100365   UniProtKB: Q8N6F13   

Export aliases for CLDN19 gene to outside databases

Previous GC identifers: GC01M042202 GC01M042662 GC01M042612 GC01M042867 GC01M042971 GC01M041318


Summaries
for CLDN19 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CLDN19:
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration
of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of
hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary
renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular
abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus.
Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. (provided by
RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: CLD19_HUMAN, Q8N6F1
Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
calcium-independent cell-adhesion activity (By similarity)

Gene Wiki entry for CLDN19


Genomic Views
for CLDN19 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLDN19 gene promoter:
         AREB6   AML1a   Sp1   COMP1   HSF2   Olf-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CLDN19 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLDN19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLDN19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

CLDN19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLDN19 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M043174:  view genomic region     (about GC identifiers)

Start:
 43,198,764 bp from pter      End:
 43,205,925 bp from pter
Size:
 7,162 bases      Orientation:
 minus strand

Proteins
for CLDN19 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CLD19_HUMAN, Q8N6F1 (See protein sequence)
Recommended Name: Claudin-19  
Size: 224 amino acids; 23229 Da
Subcellular location: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein
Secondary accessions: B7Z5I2 F5H5P9 Q5QT57 Q8N8X0
Alternative splicing: 3 isoforms:  Q8N6F1-1   Q8N6F1-2   Q8N6F1-3   (No experimental confirmation available. Ref.2 (BAH12918) sequence is in conflict in position: 186:R->C)

Explore the universe of human proteins at neXtProt for CLDN19: NX_Q8N6F1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N6F1

    • CLDN19 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116867.1  NP_001172046.1  NP_683763.2  

    ENSEMBL proteins: 
     ENSP00000296387   ENSP00000361617   ENSP00000443229  
    Reactome Protein details: Q8N6F1
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: CLDN19
    OriGene Protein Over-expression Lysate (see all 2): CLDN19
    OriGene Custom Protein Services for CLDN19 
    GenScript Custom Purified and Recombinant Proteins Services for CLDN19
    Novus Biologicals CLDN19 Proteins
    Novus Biologicals CLDN19 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CLDN19

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005923tight junction ISS--
    GO:0016021integral to membrane IEA--
    GO:0016323basolateral plasma membrane IDA16427635


    CLDN19 for ontologies           About GeneDecksing



    CLDN19 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CLDN19 (Claudin-19)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CLDN19 
    GenScript Custom Superior Antibodies Services for CLDN19
    Novus Biologicals CLDN19 Antibodies
    Search for Antibodies for CLDN19 at Abcam  
    Uscn Antibodies for CLDN19
    Search ThermoFisher Antibodies for CLDN19

    Assay Products for CLDN19: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CLDN19
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CLDN19

    Protein Domains /
    Families
    for CLDN19 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CLDN19 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR017974 Claudin_CS
     IPR006187 Claudin
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry Q8N6F1

    ProtoNet protein and cluster: Q8N6F1

    1 Blocks protein family: IPB006187 Claudin family signature

    UniProtKB/Swiss-Prot: CLD19_HUMAN, Q8N6F1
    Similarity: Belongs to the claudin family


    Function
    for CLDN19 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CLD19_HUMAN, Q8N6F1
    Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
    calcium-independent cell-adhesion activity (By similarity)

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): CLDN19
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLDN19
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate CLDN19 (see all 13):
    hsa-miR-3690 hsa-miR-4283 hsa-miR-1287 hsa-miR-4311 hsa-miR-328 hsa-miR-185* hsa-miR-492 hsa-miR-4260
    SwitchGear 3'UTR luciferase reporter plasmid: CLDN19 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLDN19 (see all 7)
    OriGene shRNA RFP: CLDN19
    OriGene siRNA: CLDN19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLDN19

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CLDN19

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN19 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN19 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): CLDN19 (NM_148960)
    Sino Biological Human cDNA Clone for CLDN19
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLDN19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLDN19 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CLDN19
    Search LifeMap BioReagents cell lines for CLDN19

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN19

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0042802identical protein binding ISS--


    CLDN19 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cldn19tm1Sts for CLDN19
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cldn19):
     behavior/neurological  nervous system 

    CLDN19 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CLDN19 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell-cell junction organization
    		Cell-cell junction organization1.00
    		Tight junction interactions0.49
    		Cell junction organization0.69
    		Cell-Cell communication0.45
    2Cell adhesion Tight junctions
    		Cell adhesion Tight junctions1.00
    		Cell adhesion_Tight junctions0.99
    3Sertoli-Sertoli Cell Junction Dynamics
    		Sertoli-Sertoli Cell Junction Dynamics1.00
    		Epithelial Tight Junctions0.36
    4Hepatitis C
    		Hepatitis C1.00
    5Leukocyte transendothelial migration
    		Leukocyte transendothelial migration1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CLDN19
        Cell adhesion Tight junctions

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLDN19
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for CLDN19
        Cell adhesion Tight junctions

    4        Reactome Pathways for CLDN19
        Tight junction interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    4         Kegg Pathways  (Kegg details for CLDN19):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Hepatitis C


    CLDN19 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CLDN19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/26 Interacting proteins for CLDN19 (Q8N6F12 ENSP000002963874) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLDN16Q9Y5I72, ENSP000002647344MINT-8387845 STRING: ENSP00000264734
    CLDN1ENSP000002955224STRING: ENSP00000295522
    CLDN10ENSP000002993394STRING: ENSP00000299339
    CLDN11ENSP000000647244STRING: ENSP00000064724
    CLDN14ENSP000003392924STRING: ENSP00000339292
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0016338calcium-independent cell-cell adhesion ISS--
    GO:0019227neuronal action potential propagation IEA--
    GO:0043297apical junction assembly IEA--
    GO:0050896response to stimulus IEA--


    CLDN19 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CLDN19 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLDN19

    2 HMDB Compounds for CLDN19    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Search CenterWatch for drugs/clinical trials and news about CLDN19 / CLD19 

    Transcripts
    for CLDN19 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CLDN19 gene (3 alternative transcripts): 
    NM_001123395.1  NM_001185117.1  NM_148960.2  

    Unigene Cluster for CLDN19:

    Claudin 19
    Hs.496270  [show with all ESTs]
    Unigene Representative Sequence: NM_001123395
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296387(uc001cht.1) ENST00000372539 ENST00000539749(uc001chu.2 uc010ojv.1)


    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): CLDN19
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLDN19
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate CLDN19 (see all 13):
    hsa-miR-3690 hsa-miR-4283 hsa-miR-1287 hsa-miR-4311 hsa-miR-328 hsa-miR-185* hsa-miR-492 hsa-miR-4260
    SwitchGear 3'UTR luciferase reporter plasmid: CLDN19 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLDN19 (see all 7)
    OriGene shRNA RFP: CLDN19
    OriGene siRNA: CLDN19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLDN19
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN19 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN19 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): CLDN19 (NM_148960)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLDN19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLDN19 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLDN19
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CLDN19
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLDN19
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLDN19

    Additional cDNA sequence: 

    AF497644.1 AK056118.1 AK096063.1 AK291197.1 AK298992.1 BC030524.1 

    2 DOTS entries:

    DT.97769386  DT.95179228 

    18 AceView cDNA sequences:

    NM_148960 AK096063 CD172341 AI245696 BF431575 CR606681 CD518176 BI768765 
    BM681600 BC030524 BX389517 BX357370 BX357369 CA389810 CD515178 AK056118 
    BF941184 BQ189592 

    GeneLoc Exon Structure


    Expression
    for CLDN19 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLDN19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGCCCCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CLDN19 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)

    See CLDN19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLDN19

    SOURCE GeneReport for Unigene cluster: Hs.496270
        SABiosciences Expression via Pathway-Focused PCR Arrays including CLDN19: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLDN19
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CLDN19
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLDN19
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLDN19
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN19

    Orthologs
    for CLDN19 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for CLDN19 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOC7692451 claudin-19-like 68.42(n)
    67.46(a)    		   769245  XM_003642541.1  XP_003642589.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CLDN196
    --
    		 --
    		 77(a)
    61(a)
    		 1 ↔ many
    1 ↔ many
    		 AAWZ02040417(804-2216)
    AAWZ02036089(29260-31237)
    zebrafish
    (Danio rerio)    		 Actinopterygii cldn191 claudin 19 68.58(n)
    67.46(a)    		   550431  NM_001017736.1  NP_001017736.1 


    ENSEMBL Gene Tree for CLDN19 (if available)
    TreeFam Gene Tree for CLDN19 (if available) 

    Paralogs
    for CLDN19 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLDN19 gene
    CLDN92  CLDN42  CLDN82  CLDN202  CLDN172  CLDN52  CLDN22  CLDN102  
    CLDN152  CLDN32  CLDN142  CLDN12  CLDN62  CLDN72  
    18/19 SIMAP similar genes for CLDN19 using alignment to 1 protein entry:     CLD19_HUMAN(see all similar genes):
    CLDN7    CLDN1    CLDN3    CLDN4    CLDN5    CLDN8
    CLDN14    CLDN9    CLDN18    CLDN10    CLDN2    CLDN6
    CLDN20    CLDN17    CLDN15    CLDN11    CLDN24    CLDN22

    CLDN19 for paralogs           About GeneDecksing



    Genomic Variants
    for CLDN19 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 NCBI SNPs in CLDN19 are shown (see all 141)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1129527071,2
    		C,--41318447(+) TGTTGC/TCCAGG 3 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1130217211,2
    		--41319145(+) GGAGCC/TACATG 3 -- ut311Minor allele frequency- T:0.50CSA 2
    rs2005276651,2
    		C--41319382(+) GACAAA/GTCCCT 3 -- ut310--------
    rs768551551,2
    		F,--41319412(+) GCAGCA/GCCGGC 3 -- ut311Minor allele frequency- G:0.03WA 118
    rs772361311,2
    		C,--41320648(+) CATGAT/CTGGGG 3 -- ut312Minor allele frequency- C:0.10CSA WA 120
    rs1114386361,2
    		C,--41321850(+) TCCCTC/ACCCCC 3 -- int12Minor allele frequency- A:0.05NA 122
    rs1154787591,2
    		C,F,--41322017(+) AGGAGT/CGGGGC 3 -- int11Minor allele frequency- C:0.05WA 118
    rs75480201,2
    		C,--41322110(+) GCCAGA/CCCCTT 3 -- int12Minor allele frequency- C:0.12CSA WA 120
    rs1147557891,2
    		C,F,--41322126(+) TGGCAC/TTCTGG 3 -- int11Minor allele frequency- T:0.02NA 120
    rs118114171,2
    		C,F,H,--41322716(+) GCCCAT/CTGGGA 3 -- int16Minor allele frequency- C:0.12NA WA CSA 246

    HapMap Linkage Disequilibrium report for CLDN19 (43198764 - 43205925 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CLDN19: --
    Human Gene Mutation Database (HGMD): CLDN19

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLDN19
    DNA2.0 Custom Variant and Variant Library Synthesis for CLDN19

    Disorders / Diseases
    for CLDN19 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CLDN19 for disorders           About GeneDecksing

    OMIM gene information: 610036   
    OMIM disorders: 248190  
    UniProtKB/Swiss-Prot: CLD19_HUMAN, Q8N6F1
  • Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]. HOMG5 is
    • a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and
    nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular
    colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients
    with HOMG3 with proven CLDN16 mutations

    11 diseases for CLDN19:    About MalaCards
    hypomagnesemia, renal, with ocular involvement    chorioretinal scar    hypomagnesemia    chorioretinitis
    nephrocalcinosis    hypercalciuria    nystagmus    myopia
    hepatitis c    hepatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CLDN19:
    Nephrocalcinosis

    Export disorders for CLDN19 gene to outside databases

    Publications
    for CLDN19 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CLDN19 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with CLDN19)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. (PubMed id 17033971)1, 2, 9 Konrad M.... Weber S. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease. (PubMed id 16427635)1, 9 Lee N.P....Luk J.M. (2006)
    5. Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocu lar findings: a new claudin-19 mutation. (PubMed id 22734304)1 Ekinci Z....Konrad M. (2012)
    6. Familial hypomagnesemia with hypercalciuria and nephro calcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN1 6 or CLDN19 mutations. (PubMed id 22422540)1 Godron A....Vargas-Poussou R. (2012)
    7. Renal, ocular, and neuromuscular involvements in pati ents with CLDN19 mutations. (PubMed id 21030577)1 Faguer S....Ribes D. (2011)
    8. The claudins. (PubMed id 19706201)1 Lal-Nag M. and Morin P.J. (2009)
    9. Structure and function of claudins. (PubMed id 18036336)1 Krause G....Blasig I.E. (2008)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    External Searches for CLDN19 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CLDN19 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 149461 HGNC: 2040 AceView: CLDN19 Ensembl:ENSG00000164007 euGenes: HUgn149461
    ECgene: CLDN19 Kegg: 149461 H-InvDB: CLDN19

    Other Databases showing CLDN19 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CLDN19 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLDN19 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CLDN19 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CLDN19 gene:
    Search GeneIP for patents involving CLDN19

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for CLDN19 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for CLDN19 (Claudin-19)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CLDN19  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLDN19   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLDN19  
     OriGene Protein Over-expression Lysate for CLDN19   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CLDN19   OriGene 3'-UTR Clone for CLDN19  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN19   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN19  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for CLDN19   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CLDN19   OriGene Custom Protein Services for CLDN19  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CLDN19
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLDN19
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLDN19
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLDN19
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLDN19
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLDN19
     GenScript Custom Purified and Recombinant Proteins Services for CLDN19 GenScript cDNA clones with any tag delivered in your preferred vector for CLDN19
     GenScript Custom Assay Services for CLDN19 GenScript Custom Superior Antibodies Services for CLDN19
     GenScript Custom overexpressing Cell Line Services for CLDN19 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CLDN19 promoter
     Search Chromatin IP Primers for CLDN19
     RT2 qPCR Primer Assay in human, mouse, rat CLDN19
     Search GNC Networks for CLDN19
     SABiosciences PCR Arrays including human, mouse, rat CLDN19
     Search Tocris compounds for CLDN19
     Browse Sino Biological Proteins and Antibodies
     cDNA Clones for CLDN19
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CLDN19 antibodies
     CLDN19 proteins
     CLDN19 lysates
     Search for Antibodies for CLDN19 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CLDN19
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CLDN19 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CLDN19
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN19
     SwitchGear 3'UTR luciferase reporter plasmids for CLDN19
     SwitchGear Promoter luciferase reporter plasmids for CLDN19
     Search ThermoFisher Antibodies for CLDN19
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLDN19
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      CLDN19 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4