CLDN16 - claudin 16 Gene

Also Known as HOMG3; PCLN1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10686

About CLDN16

Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:190,290,361-190,412,138 (from NCBI)

This gene has 3 transcripts (splice variants), 127 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 20.4), thyroid (RPKM 4.2) and 1 other tissue.

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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the Claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]

CLDN16 Products (3)

mRNA	Protein	Name
NM_001378492.1	NP_001365421.1	claudin-16
NM_001378493.1	NP_001365422.1	claudin-16
NM_006580.4	NP_006571.2	claudin-16

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables PDZ domain binding	IDA IDA: Inferred from direct assay	14628289	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	28028216	GOA
enables paracellular tight junction channel activity	IDA IDA: Inferred from direct assay	16234325	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14628289	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in paracellular transport	IDA IDA: Inferred from direct assay	16234325	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in tight junction	IDA IDA: Inferred from direct assay	14628289	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLDN16 Protein Structure

PMP22_Claudin

0
100
200
305 a.a.

Protein Preferred Names	Protein Names
claudin-16	hypomagnesemia 3, with hypercalciuria and nephrocalcinosis

CLDN16 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	CLDN16	Q9Y5I7	Cldn14	Mus musculus	Q9Z0S3	Anti Bait CoIP	22373575

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hypomagnesemia 3, Renal	HOMG3 Renal Hypomagnesemia 3 Fhhnc Without Severe Ocular Involvement Renal Hypomagnesemia Type 3 Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium Hypomagnesemia, Isolated Renal Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Isolated Renal Hypomagnesemia Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Hypomagnesemia 3 Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Fhhnc Hhn Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis Hypomagnesemia, Type 3, Renal Primary Hypomagnesemia
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome Nisch Syndrome ILVASC Ichthyosis-Sclerosing Cholangitis Syndrome Ihsc Ichthyosis-Hypotrichosis-Sclerosing Cholangitis Syndrome Ichthyosis-Sclerosing Cholangitis Neonatal Syndrome NISCH Ichthyosis With Leukocyte Vacuoles, Alopecia And Sclerosing Cholangitis
Nephrocalcinosis	Hypercalcemic Nephropathy
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Fhhnc With Severe Ocular Involvement Renal Hypomagnesemia 5 With Ocular Involvement Meier Blumberg Imahorn Syndrome HOMG5 Hypomagnesemia, Renal, With Ocular Involvement Hypomagnesemia 5, Renal, With Ocular Involvement Familial Hypomagnesemia With Hypercalciuria, Nephrocalcinosis And Severe Ocular Involvement Hypercalciuria-Bilateral Macular Coloboma Syndrome Meier-Blumberg-Imahorn Syndrome Hypomagnesemia, Familial, With Hypercalciuria, Nephrocalcinosis, And Severe Ocular Involvement Macular Coloboma, Bilateral, With Hypercalciuria Bilateral Macular Coloboma With Hypercalciuria Idiopathic Hypercalciuria With Bilateral Macular Colobomata Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement Hypomagnesemia 5 Hypomagnesemia 5 Renal With Ocular Involvement Hypomagnesemia Renal With Ocular Involvement Macular Coloboma Bilateral With Hypercalciuria Hypomagnesemia, Type 5, Renal, With Ocular Involvement
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Hypomagnesemia 2, Renal	Renal Hypomagnesemia 2 HOMG2 Magnesium Wasting, Renal Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria Magnesium Loss, Isolated Renal Isolated Autosomal Dominant Hypomagnesemia Isolated Renal Magnesium Wasting Renal Hypomagnesemia Type 2 Hypomagnesemia 2 Dominant Renal Hypomagnesemia Hypomagnesemia With Hypocalciuria Isolated Renal Magnesium Loss Renal Magnesium Wasting Hypomagnesemia-2, Renal Renal Hypomagnesemia, Dominant Hypomagnesemia, Type 2, Renal
Hypercalciuria, Absorptive, 2	HCA2 Hypercalciuria, Absorptive, Susceptibility To Hypercalciuria, Absorptive Familial Idiopathic Hypercalciuria Hypercalciuria, Familial Idiopathic Hypercalciuria Absorptive 2 Hypercalciuria Familial Idiopathic Hypercalciuria, Absorptive, Type 2 Hypercalciuria
Hypocalcemia, Autosomal Dominant 1	Autosomal Dominant Hypocalcemia Autosomal Dominant Hypocalcemia 1 HYPOC1 Hypocalcemia, Autosomal Dominant Hypercalciuric Hypocalcemia Hypocalcemia, Autosomal Dominant, With Bartter Syndrome Familial Hypocalcemia Hypocalcemia, Familial Hypoc Adh Autosomal Dominant Hypoparathyroidism Familial Hypercalciuric Hypocalcemia Ad Hypocalcemia Autosomal Dominant Hypocalcemia With Bartter Syndrome Hypoparathyroidism - Autosomal Dominant Hypocalcemia
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia 1 HOMG1 Hypomagnesemia With Secondary Hypocalcemia Hsh Hypomagnesemic Tetany Intestinal Hypomagnesemia With Secondary Hypocalcemia Homg Hypomagnesemia Caused By Selective Magnesium Malabsorption Hypomagnesemia Intestinal Type 1 Primary Hypomagnesemia With Secondary Hypocalcemia Phsh Hypomagnesemia, Intestinal, With Secondary Hypocalcemia Familial Primary Hypomagnesemia With Hypocalcuria Hypomagnesemia 1 Hypomagnesmic Tetany
Deafness, Autosomal Recessive 29	DFNB29 Autosomal Recessive Nonsyndromic Deafness 29 Autosomal Recessive Deafness 29 Deafness, Autosomal Recessive, 29 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 Deafness, Autosomal Recessive, Type 29
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandin E Syndrome 1 Bartter Disease Type 1 BARTS1 Bartter Syndrome, Type 1 Bartter Syndrome Type 1 Hypokalemic Alkalosis With Hypercalciuria Antenatal 1 Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal Bartter Syndrome Type 1 Antenatal Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal Bartter Syndrome Antenatal Type 1 Antenatal Bartter Syndrome Type 1 Bartter Syndrome Type I Bartter Syndrome 1, Antenatal Abs1 Antenatal Bartter Syndrome 1 Bs1 Bartter Syndrome, Antenatal Type 1 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bartter Syndrome, Type 3	Bartter Disease Type 3 BARTS3 Bartter Syndrome Type 3 Bartter Syndrome, Classic Classic Bartter Syndrome Bartter Syndrome Classic Bartter Syndrome Type Iii Bartter Syndrome 3
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Gitelman Syndrome	Familial Hypokalemia-Hypomagnesemia Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria Potassium And Magnesium Depletion GTLMNS Gitelman'S Syndrome Gs Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria Bartter Syndrome Gitelman Variant Bartter Syndrome Hypocalciuric Variant Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Familial Hypocalciuric Hypercalcemia	Familial Benign Hypercalcemia Fbh Fbhh Fhh Familial Benign Hypocalciuric Hypercalcemia Hypocalciuric Hypercalcemia, Familial, Type 1
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02767	CLDN16 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CLDN16	VGNC	VGNC:60931
Canis familiaris	CLDN16	VGNC	VGNC:39312
Macaca mulatta	CLDN16	VGNC	VGNC:71246
Mus musculus	CLDN16	MGD	MGI:2148742
Bos taurus	CLDN16	VGNC	VGNC:27406
Rattus norvegicus	CLDN16	RGD	RGD:620322
Others	CLDN16	NCBI