CLDN16
entrez
10686
canonical
uniprot
Q9Y5I7
canonical
ensembl
ENSG00000113946
resolver
ensp
ENSP00000264734
resolver
ensp
ENSP00000550282
resolver
ensp
ENSP00000550284
resolver
ensp
ENSP00000550286
resolver
ensp
ENSP00000632313
resolver
ensp
ENSP00000632314
resolver
ensp
ENSP00000632316
resolver
enst
ENST00000264734
resolver
enst
ENST00000880223
resolver
enst
ENST00000880225
resolver
enst
ENST00000880227
resolver
enst
ENST00000962254
resolver
enst
ENST00000962255
resolver
enst
ENST00000962257
resolver
genesymbol
CLDN16
resolver
genesymbol_syn
PCLN1
resolver
hgnc
HGNC:2037
resolver
uniprot_entry
CLD16_HUMAN
resolver
amino_acid_sequence
MRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWECVTNAFDGIRTCDEYDSILAEHPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEPYIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIFLGIQYKFGWSCWLGMAGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSYSAPRTETAKMYAVDTRV
uniprot
proteins
disease_involvement
DISEASE: Hypomagnesemia 3 (HOMG3) [MIM:248250]: A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia. {ECO:0000269|PubMed:10390358, ECO:0000269|PubMed:10878661, ECO:0000269|PubMed:11518780, ECO:0000269|PubMed:14628289, ECO:0000269|PubMed:16234325, ECO:0000269|PubMed:16528408, ECO:0000269|PubMed:18188451}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Forms paracellular channels: coassembles with CLDN19 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:16234325, 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 (PubMed:10390358, PubMed:11518780, PubMed:14628289, PubMed:16528408, PubMed:28028216). {ECO:0000269|PubMed:10390358, ECO:0000269|PubMed:11518780, ECO:0000269|PubMed:14628289, ECO:0000269|PubMed:16234325, ECO:0000269|PubMed:16528408, ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:28028216}.
uniprot
proteins
mass_dalton
26078
uniprot
proteins
mutagenesis
MUTAGEN 27; /note="D->S: Low protein expression mostly retained in the endoplasmic reticulum; loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 34; /note="D->S: Localizes at tight junctions; partial loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 35; /note="D->S: Localizes at tight junctions; partial loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 38; /note="E->T: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 42; /note="K->S: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 44; /note="R->T: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 49; /note="E->T: Localizes at tight junctions; partial loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 56; /note="D->S: Localizes at tight junctions; partial loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 59; /note="R->T: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 62; /note="D->S: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 63; /note="E->T: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 65; /note="D->S: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 70; /note="E->T: Localizes at tight junctions; partial loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 74; /note="K->S: No significant effect on protein subcellular localization or paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325"; MUTAGEN 79; /note="R->T: Low protein expression mostly retained in the endoplasmic reticulum; loss of paracellular sodium-selective transport."; /evidence="ECO:0000269|PubMed:16234325
uniprot
proteins
protein_family
Claudin family
uniprot
proteins
pubmed
10390358
uniprot
proteins
pubmed
10878661
uniprot
proteins
pubmed
11518780
uniprot
proteins
pubmed
14628289
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16234325
uniprot
proteins
pubmed
16528408
uniprot
proteins
pubmed
18188451
uniprot
proteins
pubmed
19706394
uniprot
proteins
pubmed
28028216
uniprot
proteins
pubmed
36008380
uniprot
proteins
sequence_length
235
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:10390358, ECO:0000269|PubMed:14628289, ECO:0000269|PubMed:16234325, ECO:0000269|PubMed:16528408, ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:28028216}. Cell membrane {ECO:0000269|PubMed:10390358, ECO:0000269|PubMed:14628289, ECO:0000269|PubMed:16234325, ECO:0000269|PubMed:16528408, ECO:0000269|PubMed:18188451, ECO:0000269|PubMed:28028216}; Multi-pass membrane protein {ECO:0000255}. Note=Cotrafficks with CLDN19 from ER to tight junctions. {ECO:0000269|PubMed:18188451}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 116..136; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 170..190; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins