CLDN19 claudin 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN19provided by HGNC
Official Full Name: claudin 19provided by HGNC
Primary source: HGNC:HGNC:2040
See related: Ensembl:ENSG00000164007 MIM:610036; AllianceGenome:HGNC:2040
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HOMG5
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]
Expression: Biased expression in kidney (RPKM 11.6) and placenta (RPKM 4.9) See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (42733093..42740236, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (42603583..42610726, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (43198764..43205907, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.
Title: Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.
Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1.
Title: Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1.
Mutated claudin-19 affects multiple stages of RPE and retinal differentiation through its effects on multiple functions of the RPE.
Title: Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function.
No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones.
Title: Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.
Homozygous CLDN19 mutation is associated with Familial non-syndromic macular pseudocoloboma.
Title: Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Results show that CLDN16 mutation c.602G>A had no effect on pre-mRNA splicing in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. This study expands the genotypic classification of this rare disease and provides the first report of a CLDN19 mutation affecting splicing.
Title: Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
permeability barriers and affected cell morphology, proliferation, migration, AKT signaling, and gene expression. When claudins are exogenously expressed, ARPE-19 more closely model native RPE.
Title: Claudin-3 and claudin-19 partially restore native phenotype to ARPE-19 cells via effects on tight junctions and gene expression.
CLDN19 genetic mutation is responsible for familial magnesium deficiency with hypercalciuria and nephrocalcinosis.
Title: Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
analysis of a novel mutation c.241C>T in exon 2 of CLDN19 in a Chinese patient
Title: First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Claudin-19, the most abundant claudin in myelin, exhibited no binding to ZO2 protein.
Title: Biophysical characterization of interactions between the C-termini of peripheral nerve claudins and the PDZ₁ domain of zonula occludens.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Renal hypomagnesemia 5 with ocular involvement MedGen: C4721891 OMIM: 248190 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables paracellular tight junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal action potential propagation	IEA Inferred from Electronic Annotation more info
involved_in paracellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transepithelial transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal pigment epithelium development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schmidt-Lanterman incisure	IEA Inferred from Electronic Annotation more info
located_in apical junction complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical junction complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in mesaxon	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in paranodal junction	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008993.1 RefSeqGene

Range

5019..12162

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001123395.2 → NP_001116867.1 claudin-19 isoform b

See identical proteins and their annotated locations for NP_001116867.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AC098484, AK096063, BC030524, BM681600

Consensus CDS

CCDS44125.1

UniProtKB/TrEMBL

A8K582

Related

ENSP00000361617.3, ENST00000372539.3

Conserved Domains (1) summary

cl21598
Location:4 → 182

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001185117.2 → NP_001172046.1 claudin-19 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the CDS, which results in frame-shift, and contains an additional segment in the 3' region compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AC098484, AK096063, AK298992

Consensus CDS

CCDS53306.1

UniProtKB/Swiss-Prot

Q8N6F1

Related

ENSP00000443229.1, ENST00000539749.5

Conserved Domains (1) summary

cl21598
Location:4 → 139

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_148960.3 → NP_683763.2 claudin-19 isoform a

See identical proteins and their annotated locations for NP_683763.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript, but encodes the longest isoform (a).

Source sequence(s)

AC098484, AK096063, BC030524

Consensus CDS

CCDS471.1

UniProtKB/Swiss-Prot

B7Z5I2, F5H5P9, Q5QT57, Q8N6F1, Q8N8X0

UniProtKB/TrEMBL

A8K582

Related

ENSP00000296387.1, ENST00000296387.6

Conserved Domains (1) summary

cl21598
Location:4 → 182

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family