Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLDN19 Gene

Aliases for CLDN19 Gene

  • Claudin 19 2 3
  • HOMG5 3 6
  • Claudin-19 3

External Ids for CLDN19 Gene

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 chorioretinal scar and familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement. Among its related pathways are Integrin Pathway and Cell junction organization. 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

Genomic Location for CLDN19 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLDN19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN19 Gene

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CLDN19 Gene

Domains for CLDN19 Gene

Gene Families for CLDN19 Gene

HGNC:

Protein Domains for CLDN19 Gene

UniProtKB/Swiss-Prot:

CLD19_HUMAN
Family:
  • Belongs to the claudin family.:
    • Q8N6F1
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.

Gene Ontology (GO) - Molecular Function for CLDN19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN19: view

Phenotypes for CLDN19 Gene

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

Animal Models for CLDN19 Gene

MGI Knock Outs for CLDN19:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005923 bicellular tight junction ISS --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 16427635
genes like me logo Genes that share ontologies with CLDN19: view

Pathways for CLDN19 Gene

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

Pathways by source for CLDN19 Gene

Gene Ontology (GO) - Biological Process for CLDN19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0019227 neuronal action potential propagation IEA --
GO:0043297 apical junction assembly IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CLDN19: view

Compounds for CLDN19 Gene

(2) HMDB Compounds for CLDN19 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
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 (45.2) and Kidney - Cortex (4.1).

Integrated Proteomics: protein expression 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 expressions with CLDN19: view

Orthologs for CLDN19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLDN19 36
  • 98.53 (n)
  • 98.9 (a)
CLDN19 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLDN19 36
  • 89.26 (n)
  • 95.73 (a)
CLDN19 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN19 36
  • 89.14 (n)
  • 95.09 (a)
CLDN19 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn19 36
  • 88.39 (n)
  • 95.54 (a)
Cldn19 16
Cldn19 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLDN19 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN19 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn19 36
  • 87.99 (n)
  • 95.73 (a)
chicken
(Gallus gallus)
Aves CLDN19 37
  • 68 (a)
OneToOne
LOC769245 36
  • 67.73 (n)
  • 65.75 (a)
lizard
(Anolis carolinensis)
Reptilia CLDN19 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cldn19 36
  • 70.68 (n)
  • 76.85 (a)
zebrafish
(Danio rerio)
Actinopterygii cldn19 36
  • 68.1 (n)
  • 67.46 (a)
cldn19 37
  • 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

Selected 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 MAF
rs746387 -- 42,739,368(+) tgcac(A/G)tgtgt intron-variant
rs912075 -- 42,734,855(+) TTGCT(C/T)AGCCC utr-variant-3-prime
rs4660658 -- 42,735,863(+) CAGGC(A/G)GAGCT utr-variant-3-prime, reference, missense, intron-variant
rs4660659 -- 42,736,507(+) GGCCA(C/G)GCCAG intron-variant
rs7548008 -- 42,736,424(+) AGCCA(A/G)GACTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829682 CNV Loss 17160897

Relevant External Links for CLDN19 Gene

HapMap Linkage Disequilibrium report
CLDN19
Human Gene Mutation Database (HGMD)
CLDN19

Disorders for CLDN19 Gene

(1) OMIM Diseases for CLDN19 Gene (610036)

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.

(1) University of Copenhagen DISEASES for CLDN19 Gene

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

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 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
  5. Sp1 site is crucial for the mouse claudin-19 gene expression in the kidney cells. (PMID: 15589828) Luk J.M. … Lee K.F. (FEBS Lett. 2004) 23

Products for CLDN19 Gene

Sources for CLDN19 Gene

Back to Top

Content