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CLDN16 (claudin 16)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10686
Gene nameGene Name - the full gene name approved by the HGNC.
Claudin 16
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CLDN16
SynonymsGene synonyms aliases
HOMG3, PCLN1
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q28
SummarySummary of gene provided in NCBI Entrez Gene.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs104893720 C>T Pathogenic Stop gained, coding sequence variant
rs104893721 G>A,T Pathogenic Stop gained, missense variant, coding sequence variant
rs104893722 G>A Pathogenic Missense variant, coding sequence variant
rs104893723 G>A,T Pathogenic Missense variant, coding sequence variant
rs104893724 T>C,G Pathogenic Initiator codon variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT649504 hsa-miR-548n HITS-CLIP 23824327
MIRT649503 hsa-miR-548a-5p HITS-CLIP 23824327
MIRT649502 hsa-miR-548ab HITS-CLIP 23824327
MIRT649501 hsa-miR-548ad-5p HITS-CLIP 23824327
MIRT649500 hsa-miR-548ae-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 22373575
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005923 Component Bicellular tight junction IBA 21873635
GO:0005923 Component Bicellular tight junction ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y5I7
Protein name Claudin-16 (Paracellin-1) (PCLN-1)
Protein 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:1623432
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin
72 → 253
PMP-22/EMP/MP20/Claudin family
 Family
Sequence 
MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCP
CCHPDGLLATMRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWEC
VTNAFDGIRTCDEYDSILAEHPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEP
YIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIFLGIQYKFGWSCWLGM
AGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSYSAPRTETAKMYA
VDTRV
Sequence length 305
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hypercalciuria HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING rs121908542, rs1588844639 11518780, 10878661, 18816383
Hypomagnesemia Hypomagnesemia 2, renal, Primary hypomagnesemia (disorder) rs118203979, rs118203980, rs118203981, rs104893720, rs104893721, rs104893722, rs104893723, rs104893724, rs104893725, rs104893727, rs104893728, rs104893729, rs104893730, rs104893731, rs104893732, rs121908543, rs121909379, rs28936387, rs28936388, rs755560627, rs121909380, rs1347239469, rs121909382, rs121909383, rs2144723103, rs121909384, rs121909385, rs267607050, rs121918067, rs387906880, rs371443644, rs786205909, rs786205910, rs794726858, rs138977195, rs568513106, rs185927948, rs886041108, rs201255508, rs374163823, rs147901432, rs199974259, rs13306668, rs200697179, rs200817545, rs140012781, rs202114767, rs749098014, rs373899077, rs1553809654, rs201555148, rs140551719, rs775931992, rs771701344, rs199849117, rs1555499234, rs759801838, rs1555499151, rs1555501632, rs765256758, rs1253995767, rs138308105, rs1557551678, rs779160677, rs752101663, rs759426055, rs1563974797, rs759377924, rs1366655422, rs754378340, rs34803727, rs370175770, rs1557785499, rs1557785503, rs781629728, rs1570980551, rs768527231, rs201945662, rs145337602, rs1596890176, rs139743444, rs780299444, rs1596883431, rs751409326, rs1274973729, rs146158333, rs747139582, rs753523115, rs148038173, rs374182921, rs761242621, rs751959432, rs1577430815, rs758035631, rs369360334, rs374055486, rs750710315, rs770513014, rs758683818, rs746818109, rs747249619, rs771326058, rs746623621, rs781209989, rs772241737 11518780, 20607983, 10878661, 16234325, 18816383, 15856319, 25477417, 26426912, 27604308, 10390358
Kidney disease Chronic Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Unknown
Disease name Disease term dbSNP ID References
Astigmatism Astigmatism
Hyperopia Hyperopia
Hyperuricemia Hyperuricemia
Medullary nephrocalcinosis Medullary nephrocalcinosis

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