CLDN19 - claudin 19 Gene

Homo sapiens

Also known as HOMG5

Gene ID: 149461 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

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