CLDN19 - claudin 19 Gene

Also Known as HOMG5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 149461

About CLDN19

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,733,093-42,740,236 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 22 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 11.6) and placenta (RPKM 4.9).

Summary

The product of this gene belongs to the Claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

CLDN19 Products (3)

mRNA	Protein	Name
NM_001123395.2	NP_001116867.1	claudin-19 isoform b
NM_001185117.2	NP_001172046.1	claudin-19 isoform c
NM_148960.3	NP_683763.2	claudin-19 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	28028216	GOA
enables paracellular tight junction channel activity	IDA IDA: Inferred from direct assay	18188451	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18188451	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in negative regulation of wound healing	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in paracellular transport	IDA IDA: Inferred from direct assay	18188451	GOA
involved in positive regulation of cell junction assembly	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in regulation of transepithelial transport	IMP IMP: Inferred from mutant phenotype	27593915	GOA
involved in retinal pigment epithelium development	IMP IMP: Inferred from mutant phenotype	30937396	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical junction complex	IDA IDA: Inferred from direct assay	16427635	GOA
located in apical junction complex	IMP IMP: Inferred from mutant phenotype	27593915	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	16427635	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	16427635	GOA
located in perinuclear region of cytoplasm	IMP IMP: Inferred from mutant phenotype	27593915	GOA
located in tight junction	IDA IDA: Inferred from direct assay	18188451	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

CLDN19 Protein Structure

PMP22_Claudin

0
100
200
224 a.a.

Protein Preferred Names	Protein Names
claudin-19

Related Diseases

Diseases	Alias
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
Nephrocalcinosis	Hypercalcemic Nephropathy
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
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
Nephrolithiasis, Uric Acid	Nephrolithiasis, Uric Acid, Susceptibility To Uric Acid Urolithiasis Uric Acid Nephrolithiasis UAN Acute Urate Nephropathy Urolithiasis, Uric Acid Urolithiasis, Uric Acid, Susceptibility To Uric Acid Renal Calculus
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
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
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 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
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
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma

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-RS02769	CLDN19 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CLDN19	MGD	MGI:3033992
Bos taurus	CLDN19	VGNC	VGNC:27409
Felis catus	CLDN19	VGNC	VGNC:80169
Canis familiaris	CLDN19	VGNC	VGNC:39315
Macaca mulatta	CLDN19	VGNC	VGNC:106342
Rattus norvegicus	CLDN19	RGD	RGD:1305000
Others	CLDN19	NCBI