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Aliases for CLDN19 Gene

Aliases for CLDN19 Gene

  • Claudin 19 2 3 5
  • HOMG5 3

External Ids for CLDN19 Gene

Previous GeneCards Identifiers for CLDN19 Gene

  • GC01M043174
  • GC01M042202
  • GC01M042662
  • GC01M042612
  • GC01M042867
  • GC01M042971
  • GC01M041318
  • GC01M042734
  • GC01M042735

Summaries for CLDN19 Gene

Entrez Gene Summary for CLDN19 Gene

  • 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]

GeneCards Summary for CLDN19 Gene

CLDN19 (Claudin 19) is a Protein Coding gene. Diseases associated with CLDN19 include Hypomagnesemia 5, Renal, With Ocular Involvement and Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement. Among its related pathways are Cell junction organization and Tight junction. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN9.

UniProtKB/Swiss-Prot for CLDN19 Gene

  • Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

Gene Wiki entry for CLDN19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN19 Gene

Genomics for CLDN19 Gene

Regulatory Elements for CLDN19 Gene

Enhancers for CLDN19 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CLDN19 on UCSC Golden Path with GeneCards custom track

Promoters for CLDN19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLDN19 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLDN19 Gene

Chromosome:
1
Start:
42,733,093 bp from pter
End:
42,740,254 bp from pter
Size:
7,162 bases
Orientation:
Minus strand

Genomic View for CLDN19 Gene

Genes around CLDN19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN19 Gene

Proteins for CLDN19 Gene

  • Protein details for CLDN19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6F1-CLD19_HUMAN
    Recommended name:
    Claudin-19
    Protein Accession:
    Q8N6F1
    Secondary Accessions:
    • B7Z5I2
    • F5H5P9
    • Q5QT57
    • Q8N8X0

    Protein attributes for CLDN19 Gene

    Size:
    224 amino acids
    Molecular mass:
    23229 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CLDN19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLDN19 Gene

Proteomics data for CLDN19 Gene at MOPED

Post-translational modifications for CLDN19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN19 Gene

No data available for DME Specific Peptides for CLDN19 Gene

Domains & Families for CLDN19 Gene

Gene Families for CLDN19 Gene

Protein Domains for CLDN19 Gene

Suggested Antigen Peptide Sequences for CLDN19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N6F1

UniProtKB/Swiss-Prot:

CLD19_HUMAN :
  • Belongs to the claudin family.
Family:
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN19: view

Function for CLDN19 Gene

Molecular function for CLDN19 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
genes like me logo Genes that share phenotypes with CLDN19: view

Human Phenotype Ontology for CLDN19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLDN19 Gene

MGI Knock Outs for CLDN19:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CLDN19 Gene

Localization for CLDN19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN19 Gene

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLDN19 Gene COMPARTMENTS Subcellular localization image for CLDN19 gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for CLDN19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005923 bicellular tight junction IEA,ISS --
GO:0043296 apical junction complex IDA 16427635
genes like me logo Genes that share ontologies with CLDN19: view

Pathways & Interactions for CLDN19 Gene

genes like me logo Genes that share pathways with CLDN19: view

Gene Ontology (GO) - Biological Process for CLDN19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CLDN19: view

No data available for SIGNOR curated interactions for CLDN19 Gene

Drugs & Compounds for CLDN19 Gene

(2) Drugs for CLDN19 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
Magnesium Nutra 0
genes like me logo Genes that share compounds with CLDN19: view

Transcripts for CLDN19 Gene

mRNA/cDNA for CLDN19 Gene

Unigene Clusters for CLDN19 Gene

Claudin 19:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN19 Gene

No ASD Table

Relevant External Links for CLDN19 Gene

GeneLoc Exon Structure for
CLDN19
ECgene alternative splicing isoforms for
CLDN19

Expression for CLDN19 Gene

mRNA expression in normal human tissues for CLDN19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLDN19 Gene

This gene is overexpressed in Nerve - Tibial (x45.2) and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for CLDN19 Gene

This gene is overexpressed in Spinal cord (63.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLDN19 Gene



SOURCE GeneReport for Unigene cluster for CLDN19 Gene Hs.496270

genes like me logo Genes that share expression patterns with CLDN19: view

Protein tissue co-expression partners for CLDN19 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CLDN19 Gene

Orthologs for CLDN19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN19 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLDN19 35
  • 89.26 (n)
  • 95.73 (a)
CLDN19 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN19 35
  • 89.14 (n)
  • 95.09 (a)
CLDN19 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn19 35
  • 88.39 (n)
  • 95.54 (a)
Cldn19 16
Cldn19 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLDN19 35
  • 98.53 (n)
  • 98.9 (a)
CLDN19 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn19 35
  • 87.99 (n)
  • 95.73 (a)
oppossum
(Monodelphis domestica)
Mammalia CLDN19 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN19 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC769245 35
  • 67.73 (n)
  • 65.75 (a)
CLDN19 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN19 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cldn19 35
  • 70.68 (n)
  • 76.85 (a)
zebrafish
(Danio rerio)
Actinopterygii cldn19 35
  • 68.1 (n)
  • 67.46 (a)
cldn19 36
  • 68 (a)
OneToOne
Species with no ortholog for CLDN19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLDN19 Gene

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

Paralogs for CLDN19 Gene

Paralogs for CLDN19 Gene

(18) SIMAP similar genes for CLDN19 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CLDN19: view

Variants for CLDN19 Gene

Sequence variations from dbSNP and Humsavar for CLDN19 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12065961 - 42,740,025(+) AGGGC(A/C)AAGAA reference, missense
VAR_031239 Hypomagnesemia 5 (HOMG5)
VAR_031240 Hypomagnesemia 5 (HOMG5)
VAR_031241 Hypomagnesemia 5 (HOMG5)
rs746387 -- 42,739,368(+) tgcac(A/G)tgtgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLDN19 Gene

Variant ID Type Subtype PubMed ID
nsv829682 CNV Loss 17160897

Variation tolerance for CLDN19 Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLDN19 Gene

Human Gene Mutation Database (HGMD)
CLDN19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN19 Gene

Disorders for CLDN19 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CLDN19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypomagnesemia 5, renal, with ocular involvement
  • hypomagnesemia, renal, with ocular involvement
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
  • meier blumberg imahorn syndrome
nephrocalcinosis
  • hypercalcemic nephropathy
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CLD19_HUMAN
  • Hypomagnesemia 5 (HOMG5) [MIM:248190]: 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. {ECO:0000269 PubMed:17033971}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CLDN19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLDN19
genes like me logo Genes that share disorders with CLDN19: view

No data available for Genatlas for CLDN19 Gene

Publications for CLDN19 Gene

  1. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. (PMID: 17033971) Konrad M. … Weber S. (Am. J. Hum. Genet. 2006) 3 4 23 67
  2. Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease. (PMID: 16427635) Lee N.P. … Luk J.M. (FEBS Lett. 2006) 3 23
  3. First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family. (PMID: 25555744) Yuan T. … Xia W. (Calcif. Tissue Int. 2015) 3
  4. Biophysical characterization of interactions between the C-termini of peripheral nerve claudins and the PDZa88 domain of zonula occludens. (PMID: 25712527) Wu J. … Li J. (Biochem. Biophys. Res. Commun. 2015) 3
  5. Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (PMID: 23301036) Claverie-MartA-n F. … Muley R. (PLoS ONE 2013) 3

Products for CLDN19 Gene

Sources for CLDN19 Gene

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