CLDN19 information

CLDN19
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3X29
Identifiers
Aliases	CLDN19, HOMG5, claudin 19
External IDs	OMIM: 610036; MGI: 3033992; HomoloGene: 17528; GeneCards: CLDN19; OMA:CLDN19 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	42,740,254 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	119,119,635 bp
RNA expression pattern
	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
	n/a
Gene ontology
Molecular function	structural molecule activity; identical protein binding; protein binding;
Cellular component	cytoplasm; integral component of membrane; cell junction; plasma membrane; basolateral plasma membrane; apical junction complex; nucleus; bicellular tight junction; membrane;
Biological process	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; apical junction assembly; neuronal action potential propagation; response to stimulus; visual perception; tight junction organization;
	Sources:Amigo / QuickGO
Orthologs
	149461
	242653
	ENSG00000164007
	ENSMUSG00000066058
	Q8N6F1
	Q9ET38
	NM_148960; NM_001123395; NM_001185117
	NM_001038590; NM_153105
	NP_001116867; NP_001172046; NP_683763
	NP_001033679; NP_694745
	Wikidata
View/Edit Human	View/Edit Mouse

Claudin-19 is a protein that in humans is encoded by the CLDN19 gene.^[5] It belongs to the group of claudins. Claudin-19 has been implicated in magnesium transport.^[6]^[7]

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).[supplied by OMIM]^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164007 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000066058 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: CLDN19 claudin 19".
^ 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.
^ Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Jüppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nürnberg P, Weber S (2006). "Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement". The American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164007 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000066058 – Ensembl, 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.

[entrez-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, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Jüppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nürnberg P, Weber S (2006). "Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement". The American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

CLDN19 information

and 6 Related for: CLDN19 information

CLDN19

Microphthalmia

Magnesium deficiency

Claudin

List of OMIM disorder codes

Magnesium transporter