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CLDN19

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Protein-coding gene in the species Homo sapiens

CLDN19
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3X29

Identifiers
AliasesCLDN19, HOMG5, claudin 19
External IDsOMIM: 610036; MGI: 3033992; HomoloGene: 17528; GeneCards: CLDN19; OMA:CLDN19 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)
Chromosome 1 (human)Genomic location for CLDN19Genomic location for CLDN19
Band1p34.2Start42,733,093 bp
End42,740,254 bp
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)
Chromosome 4 (mouse)Genomic location for CLDN19Genomic location for CLDN19
Band4|4 D2.1Start119,112,611 bp
End119,119,635 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • trigeminal ganglion

  • spinal ganglia

  • retinal pigment epithelium

  • renal medulla

  • tibial nerve

  • vena cava

  • epithelium of nasopharynx

  • body of tongue

  • ventral tegmental area

  • trachea
Top expressed in
  • sciatic nerve

  • right kidney

  • inner renal medulla

  • outer renal medulla

  • spinal ganglia

  • lip

  • human kidney

  • lens

  • embryo

  • muscle of thigh
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

149461

242653

Ensembl

ENSG00000164007

ENSMUSG00000066058

UniProt

Q8N6F1

Q9ET38

RefSeq (mRNA)

NM_148960
NM_001123395
NM_001185117

NM_001038590
NM_153105

RefSeq (protein)

NP_001116867
NP_001172046
NP_683763

NP_001033679
NP_694745

Location (UCSC)Chr 1: 42.73 – 42.74 MbChr 4: 119.11 – 119.12 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Claudin-19 is a protein that in humans is encoded by the CLDN19 gene. It belongs to the group of claudins. Claudin-19 has been implicated in magnesium transport.

Claudins, such as CLDN19, are transmembrane proteins found at tight junctions. Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells (Lee et al., 2006).

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000164007Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000066058Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: CLDN19 claudin 19".
  6. Naeem M, Hussain S, Akhtar N (2011). "Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease". American Journal of Nephrology. 34 (3): 241–248. doi:10.1159/000330854. PMID 21791920.
  7. Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, et al. (November 2006). "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement". American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

External links

Further reading


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