Gene Gene information from NCBI Gene database.
Entrez ID 10686
Gene name Claudin 16
Gene symbol CLDN16
Synonyms (NCBI Gene)
HOMG3PCLN1
Chromosome 3
Chromosome location 3q28
Summary 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.
SNPs SNP information provided by dbSNP.
22
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
miRNA miRNA information provided by mirtarbase database.
220
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 14628289, 18188451, 19706394, 22373575, 28028216
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005923 Component Bicellular tight junction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603959 2037 ENSG00000113946
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Kidney-specific, including the thick ascending limb of Henle (TAL). {ECO:0000269|PubMed:10390358}.
Sequence
MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCP
CCHPDGLLATMRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWEC
VTNAFDGIRTCDEYDSILAEHPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEP
YIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIFLGIQYKFGWSCWLGM
AGSLGCFLAGAVL
TCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSYSAPRTETAKMYA
VDTRV
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
151
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING Pathogenic rs121908542 RCV000006302
Primary hypomagnesemia Likely pathogenic; Pathogenic rs753901053, rs968906940, rs2108670592, rs2108658339, rs104893728, rs1718987504, rs1577432872, rs104893720, rs104893721, rs104893722, rs104893723, rs104893724, rs104893725, rs104893727, rs104893729
View all (15 more)
RCV005360371
RCV001564039
RCV001568363
RCV001568368
RCV001780794
RCV005025679
RCV002502045
RCV000006288
RCV000006289
RCV000006290
RCV000006291
RCV000006292
RCV000006293
RCV000006295
RCV000006296
RCV000006297
RCV000006298
RCV000006299
RCV000006300
RCV000006301
RCV000006303
RCV003994626
RCV004585142
RCV000023358
RCV000505624
RCV000656736
RCV000656737
RCV000678491
RCV000853501
RCV000987375
RCV003142041
Renal hypomagnesemia 5 with ocular involvement Likely pathogenic rs1293775732 RCV001195722
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLDN16-related disorder Uncertain significance; Likely benign; Benign rs200322099, rs867514971, rs756905865, rs372129081, rs139846352 RCV003950211
RCV004758687
RCV003977046
RCV003969573
RCV003920663
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs201367228 RCV005909209
Malignant tumor of urinary bladder Likely benign rs145675747 RCV005913882
Nephrocalcinosis Uncertain significance rs104893726 RCV000662319
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Coarctation Associate 16924549
Cardiovascular Abnormalities Associate 16924549
Chronic Kidney Disease Mineral and Bone Disorder Associate 22422540, 30005619
Congenital Abnormalities Associate 16924549
Diabetes Mellitus Type 2 Associate 32747424
Epileptic Syndromes Associate 24321194, 30005619, 40428323
FACES syndrome Associate 16924549
Fanconi Syndrome Associate 16924549
Fused Kidney Associate 16924549
Genetic Diseases Inborn Associate 14628289, 16924549