Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	Claudin 16
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLDN16
Synonyms (NCBI Gene) Gene synonyms aliases	HOMG3, PCLN1
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q28
Summary Summary 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.

Show/Hide all(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
rs104893725	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893726	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893727	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893728	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893729	G>T	Pathogenic	Missense variant, coding sequence variant
rs104893730	T>G	Pathogenic	Missense variant, coding sequence variant
rs104893731	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893732	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908542	C>G	Pathogenic	Missense variant, coding sequence variant
rs121908543	T>G	Pathogenic	Stop gained, coding sequence variant
rs138308105	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387906880	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs751959432	G>A,C	Likely-pathogenic	Intron variant
rs765256758	C>T	Pathogenic	Coding sequence variant, missense variant
rs1253995767	->TTAA	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1553809654	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577430815	G>C	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(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
MIRT649499	hsa-miR-548ak	HITS-CLIP	23824327
MIRT649498	hsa-miR-548am-5p	HITS-CLIP	23824327
MIRT649497	hsa-miR-548ap-5p	HITS-CLIP	23824327
MIRT649496	hsa-miR-548aq-5p	HITS-CLIP	23824327
MIRT649495	hsa-miR-548ar-5p	HITS-CLIP	23824327
MIRT649494	hsa-miR-548as-5p	HITS-CLIP	23824327
MIRT649493	hsa-miR-548au-5p	HITS-CLIP	23824327
MIRT649492	hsa-miR-548ay-5p	HITS-CLIP	23824327
MIRT649491	hsa-miR-548b-5p	HITS-CLIP	23824327
MIRT649490	hsa-miR-548bb-5p	HITS-CLIP	23824327
MIRT649489	hsa-miR-548c-5p	HITS-CLIP	23824327
MIRT649488	hsa-miR-548d-5p	HITS-CLIP	23824327
MIRT649487	hsa-miR-548h-5p	HITS-CLIP	23824327
MIRT649486	hsa-miR-548i	HITS-CLIP	23824327
MIRT649485	hsa-miR-548j-5p	HITS-CLIP	23824327
MIRT649484	hsa-miR-548o-5p	HITS-CLIP	23824327
MIRT649483	hsa-miR-548w	HITS-CLIP	23824327
MIRT649482	hsa-miR-548y	HITS-CLIP	23824327
MIRT649481	hsa-miR-559	HITS-CLIP	23824327
MIRT649479	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT649480	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT649478	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649477	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT649475	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649476	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649474	hsa-miR-4659b-3p	HITS-CLIP	23824327
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
MIRT649499	hsa-miR-548ak	HITS-CLIP	23824327
MIRT649498	hsa-miR-548am-5p	HITS-CLIP	23824327
MIRT649497	hsa-miR-548ap-5p	HITS-CLIP	23824327
MIRT649496	hsa-miR-548aq-5p	HITS-CLIP	23824327
MIRT649495	hsa-miR-548ar-5p	HITS-CLIP	23824327
MIRT649494	hsa-miR-548as-5p	HITS-CLIP	23824327
MIRT649493	hsa-miR-548au-5p	HITS-CLIP	23824327
MIRT649492	hsa-miR-548ay-5p	HITS-CLIP	23824327
MIRT649491	hsa-miR-548b-5p	HITS-CLIP	23824327
MIRT649490	hsa-miR-548bb-5p	HITS-CLIP	23824327
MIRT649489	hsa-miR-548c-5p	HITS-CLIP	23824327
MIRT649488	hsa-miR-548d-5p	HITS-CLIP	23824327
MIRT649487	hsa-miR-548h-5p	HITS-CLIP	23824327
MIRT649486	hsa-miR-548i	HITS-CLIP	23824327
MIRT649485	hsa-miR-548j-5p	HITS-CLIP	23824327
MIRT649484	hsa-miR-548o-5p	HITS-CLIP	23824327
MIRT649483	hsa-miR-548w	HITS-CLIP	23824327
MIRT649482	hsa-miR-548y	HITS-CLIP	23824327
MIRT649481	hsa-miR-559	HITS-CLIP	23824327
MIRT649479	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT649480	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT649478	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649477	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT649475	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649476	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649474	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT895143	hsa-miR-106a	CLIP-seq
MIRT895144	hsa-miR-106b	CLIP-seq
MIRT895145	hsa-miR-1193	CLIP-seq
MIRT895146	hsa-miR-150	CLIP-seq
MIRT895147	hsa-miR-17	CLIP-seq
MIRT895148	hsa-miR-192	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT895150	hsa-miR-20a	CLIP-seq
MIRT895151	hsa-miR-20b	CLIP-seq
MIRT895152	hsa-miR-215	CLIP-seq
MIRT895153	hsa-miR-2392	CLIP-seq
MIRT895154	hsa-miR-300	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT895156	hsa-miR-3605-3p	CLIP-seq
MIRT895157	hsa-miR-3646	CLIP-seq
MIRT895158	hsa-miR-381	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT895160	hsa-miR-4270	CLIP-seq
MIRT895161	hsa-miR-4422	CLIP-seq
MIRT895162	hsa-miR-4441	CLIP-seq
MIRT895163	hsa-miR-4450	CLIP-seq
MIRT895164	hsa-miR-4662a-5p	CLIP-seq
MIRT895165	hsa-miR-4666-3p	CLIP-seq
MIRT895166	hsa-miR-4676-5p	CLIP-seq
MIRT895167	hsa-miR-4706	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT895169	hsa-miR-4749-5p	CLIP-seq
MIRT895170	hsa-miR-4757-5p	CLIP-seq
MIRT895171	hsa-miR-4772-3p	CLIP-seq
MIRT895172	hsa-miR-4789-5p	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT895174	hsa-miR-519d	CLIP-seq
MIRT895175	hsa-miR-520g	CLIP-seq
MIRT895176	hsa-miR-520h	CLIP-seq
MIRT895177	hsa-miR-542-5p	CLIP-seq
MIRT895178	hsa-miR-548h	CLIP-seq
MIRT895179	hsa-miR-548j	CLIP-seq
MIRT895180	hsa-miR-548l	CLIP-seq
MIRT895181	hsa-miR-572	CLIP-seq
MIRT895182	hsa-miR-575	CLIP-seq
MIRT895183	hsa-miR-640	CLIP-seq
MIRT895184	hsa-miR-744	CLIP-seq
MIRT895185	hsa-miR-93	CLIP-seq
MIRT1920359	hsa-miR-1236	CLIP-seq
MIRT895178	hsa-miR-548h	CLIP-seq
MIRT895179	hsa-miR-548j	CLIP-seq
MIRT1920359	hsa-miR-1236	CLIP-seq
MIRT895178	hsa-miR-548h	CLIP-seq
MIRT895179	hsa-miR-548j	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT1965425	hsa-miR-122	CLIP-seq
MIRT1965426	hsa-miR-130a	CLIP-seq
MIRT1965427	hsa-miR-130b	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT1965429	hsa-miR-301a	CLIP-seq
MIRT1965430	hsa-miR-301b	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT1965431	hsa-miR-3666	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT1965433	hsa-miR-4295	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965436	hsa-miR-4466	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT1965438	hsa-miR-454	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965440	hsa-miR-4740-3p	CLIP-seq
MIRT1965441	hsa-miR-4761-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT895181	hsa-miR-572	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT1965444	hsa-miR-675	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT1965425	hsa-miR-122	CLIP-seq
MIRT1965426	hsa-miR-130a	CLIP-seq
MIRT1965427	hsa-miR-130b	CLIP-seq
MIRT1965429	hsa-miR-301a	CLIP-seq
MIRT1965430	hsa-miR-301b	CLIP-seq
MIRT1965431	hsa-miR-3666	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT1965433	hsa-miR-4295	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT2201385	hsa-miR-4438	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965436	hsa-miR-4466	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT1965438	hsa-miR-454	CLIP-seq
MIRT895170	hsa-miR-4757-5p	CLIP-seq
MIRT2201386	hsa-miR-5095	CLIP-seq
MIRT1965444	hsa-miR-675	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT2447129	hsa-miR-1267	CLIP-seq
MIRT2447130	hsa-miR-1273f	CLIP-seq
MIRT2447131	hsa-miR-1289	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT2447132	hsa-miR-143	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT2447133	hsa-miR-3198	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT2447134	hsa-miR-4269	CLIP-seq
MIRT2447135	hsa-miR-4294	CLIP-seq
MIRT2447136	hsa-miR-4309	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT2447137	hsa-miR-4534	CLIP-seq
MIRT2447138	hsa-miR-4708-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT2447139	hsa-miR-4770	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT2447140	hsa-miR-720	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT1965425	hsa-miR-122	CLIP-seq
MIRT1965426	hsa-miR-130a	CLIP-seq
MIRT1965427	hsa-miR-130b	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT1965429	hsa-miR-301a	CLIP-seq
MIRT1965430	hsa-miR-301b	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT1965431	hsa-miR-3666	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT2447134	hsa-miR-4269	CLIP-seq
MIRT1965433	hsa-miR-4295	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965436	hsa-miR-4466	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT1965438	hsa-miR-454	CLIP-seq
MIRT895164	hsa-miR-4662a-5p	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT1965444	hsa-miR-675	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT2447134	hsa-miR-4269	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq

Show/Hide all(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
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005923	Component	Bicellular tight junction	TAS	10390358
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0010496	Process	Intercellular transport	TAS	10390358
GO:0015095	Function	Magnesium ion transmembrane transporter activity	TAS	10390358
GO:0016020	Component	Membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0030001	Process	Metal ion transport	TAS	10390358
GO:0030003	Process	Intracellular monoatomic cation homeostasis	TAS	10390358
GO:0030165	Function	PDZ domain binding	IDA	14628289
GO:0042802	Function	Identical protein binding	IDA	28028216
GO:0042802	Function	Identical protein binding	ISS
GO:0070160	Component	Tight junction	IDA	14628289, 16234325, 18188451
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0160184	Process	Paracellular transport	IDA	16234325, 18188451
GO:0160184	Process	Paracellular transport	IEA
GO:0160187	Function	Paracellular tight junction channel activity	IDA	16234325, 18188451
GO:1903830	Process	Magnesium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603959	2037	ENSG00000113946

Protein

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

Tissue specificity

TISSUE SPECIFICITY: Kidney-specific, including the thick ascending limb of Henle (TAL). {ECO:0000269|PubMed:10390358}.

Sequence

MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCP
CCHPDGLLATMRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWEC
VTNAFDGIRTCDEYDSILAEHPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEP
YIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIFLGIQYKFGWSCWLGM
AGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSYSAPRTETAKMYA
VDTRV

Sequence length

305

Interactions

View interactions

	KEGG
	Virion - Hepatitis viruses Cell adhesion molecules Tight junction Leukocyte transendothelial migration Pathogenic Escherichia coli infection Hepatitis C

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypomagnesemia	Primary hypomagnesemia	rs138308105, rs104893729, rs751959432, rs104893730, rs1577430815, rs104893731, rs772241737, rs104893720, rs104893732, rs104893721, rs104893722, rs121908543, rs104893723, rs387906880, rs104893724 View all (6 more)	N/A
Hypercalciuria	hypercalciuria, childhood, self-limiting	rs121908542	N/A

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Glycosuria Renal	Associate	18003771
Heart Septal Defects Ventricular	Associate	16924549
Hernia Umbilical	Associate	16924549
Hypercalciuria	Associate	14628289, 16595585, 16924549, 18003771, 20607983, 22422540, 23301036, 24321194, 26136118, 30005619, 30102483, 30621608, 40428323
Hypercalciuria Absorptive 2	Associate	14628289
Hypertrichosis	Associate	16924549
Hypocalcemia	Associate	30005619
Hypomagnesemia 2 renal	Associate	30005619, 31357502
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	26136118, 26446843, 31357502
Hypomagnesemia primary	Associate	14628289, 16595585, 16924549, 18003771, 18816383, 20607983, 22422540, 23301036, 25366522, 26136118, 30005619, 30305086, 30621608, 31357502, 32869508
Kidney Diseases	Associate	21030577, 26446843, 30005619, 31357502
Kidney Failure Chronic	Associate	14628289, 24321194, 26136118, 30005619, 35022288
Manz syndrome	Associate	11380823
Neoplasms	Associate	22193974
Nephrocalcinosis	Associate	14628289, 16595585, 16924549, 18003771, 20607983, 22422540, 23301036, 24321194, 25366522, 26136118, 28893421, 30005619, 30102483, 30621608, 31357502, 35022288, 40428323 View all (2 more)
Nephrolithiasis	Associate	14628289, 24321194, 28893421, 40428323
Renal Insufficiency	Associate	16924549, 31357502
Renal Insufficiency Chronic	Associate	26136118

CLDN16 (claudin 16)