CLDN16 - claudin 16 Gene

Homo sapiens

Also known as HOMG3; PCLN1

Gene ID: 10686 | Gene type: protein coding

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

CLDN16 Protein Structure

PMP22_Claudin

0
100
200
305 a.a.

Protein Preferred Names

Protein Names

claudin-16

hypomagnesemia 3, with hypercalciuria and nephrocalcinosis

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

Bioactive Molecules (1)

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

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