CLDN19
entrez
149461
canonical
uniprot
Q8N6F1
canonical
ensembl
ENSG00000164007
resolver
ensp
ENSP00000296387
resolver
ensp
ENSP00000361617
resolver
ensp
ENSP00000443229
resolver
genesymbol
CLDN19
resolver
hgnc
HGNC:2040
resolver
uniprot
B7Z5I2
resolver
uniprot
F5H5P9
resolver
uniprot
Q5QT57
resolver
uniprot
Q8N8X0
resolver
uniprot_entry
CLD19_HUMAN
resolver
uniprot_sec
B7Z5I2
resolver
uniprot_sec
F5H5P9
resolver
uniprot_sec
Q5QT57
resolver
uniprot_sec
Q8N8X0
resolver
amino_acid_sequence
MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAVGLYEGLWMSCASQSTGQVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGMKCTRVGDSNPIAKGRVAIAGGALFILAGLCTLTAVSWYATLVTQEFFNPSTPVNARYEFGPALFVGWASAGLAVLGGSFLCCTCPEPERPNSSPQPYRPGPSAAAREPVVKLPASAKGPLGV
uniprot
proteins
disease_involvement
DISEASE: Hypomagnesemia 5, renal, with or without ocular involvement (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, ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:19706394, ECO:0000269|PubMed:25555744, ECO:0000269|PubMed:30937396}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Forms paracellular channels: coassembles with CLDN16 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:18188451, PubMed:28028216). Involved in the maintenance of ion gradients along the nephron. In the thick ascending limb (TAL) of Henle's loop, facilitates sodium paracellular permeability from the interstitial compartment to the lumen, contributing to the lumen-positive transepithelial potential that drives paracellular magnesium and calcium reabsorption (By similarity) (PubMed:17033971, PubMed:25555744). Forms paracellular barriers on its own. In the peripheral nervous system, represents a major constituent of the tight junctions in Schwann cells and contributes to electrical sealing. During retinal neurogenesis, may regulate the barrier properties of tight junctions in retinal pigment epithelium, required for proper retinal tissue differentiation and vision (By similarity) (PubMed:17033971, PubMed:30937396). {ECO:0000250|UniProtKB:Q9ET38, ECO:0000269|PubMed:17033971, ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:25555744, ECO:0000269|PubMed:28028216, ECO:0000269|PubMed:30937396}.
uniprot
proteins
mass_dalton
23229
uniprot
proteins
protein_family
Claudin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17033971
uniprot
proteins
pubmed
18188451
uniprot
proteins
pubmed
19706394
uniprot
proteins
pubmed
25555744
uniprot
proteins
pubmed
28028216
uniprot
proteins
pubmed
30937396
uniprot
proteins
pubmed
36008380
uniprot
proteins
sequence_length
224
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:28028216}. Cell membrane {ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:28028216}; Multi-pass membrane protein {ECO:0000255}. Note=Cotrafficks with CLDN16 from ER to tight junctions. Colocalizes with CLDN16 and CLDN3 in cell-cell contact areas of the TAL spatially separated from CLDN10b paracellular channels. {ECO:0000269|PubMed:18188451}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..102; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 161..181; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins