Cldn19 claudin 19 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cldn19provided by MGI
Official Full Name: claudin 19provided by MGI
Primary source: MGI:MGI:3033992
See related: Ensembl:ENSMUSG00000066058 AllianceGenome:MGI:3033992
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. siRNA knockdown of this gene in mice develops the FHHNC (familial hypomagnesemia with hypercalciuria and nephrocalcinosis) symptoms of chronic renal wasting of magnesium and calcium together with defective renal salt handling. The protein encoded by this gene interacts with another family member, Claudin 16, and their interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. This protein is a constituent of tight junctions in the Schwann cells of peripheral myelinated nerves and the gene deficiency affects the nerve conduction of peripheral myelinated fibers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
Expression: Biased expression in kidney adult (RPKM 14.0) and mammary gland adult (RPKM 1.5) See more
Orthologs: human all
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Genomic context

Location:: 4 D2.1; 4 55.34 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (119112638..119119635)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (119255441..119262438)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Claudin-19 localizes to the thick ascending limb where its expression is required for junctional claudin-16 localization.
Title: Claudin-19 localizes to the thick ascending limb where its expression is required for junctional claudin-16 localization.
this study presents the structure of mammalian claudin-19 in complex with C-CPE at 3.7 A resolution.
Title: Tight junctions. Structural insight into tight junction disassembly by Clostridium perfringens enterotoxin.
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
Title: Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
Sp1 site is crucial for Cldn19 gene expression in kidney cells.
Title: Sp1 site is crucial for the mouse claudin-19 gene expression in the kidney cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within apical junction assembly	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 cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of wound healing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal action potential propagation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell junction assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of transepithelial transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tight junction organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical junction complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
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	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

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.

mRNA and Protein(s)

NM_001038590.1 → NP_001033679.1 claudin-19 isoform 1

See identical proteins and their annotated locations for NP_001033679.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF486651

Consensus CDS

CCDS18577.1

UniProtKB/Swiss-Prot

Q8R4B7, Q9ET38

Related

ENSMUSP00000081334.6, ENSMUST00000084309.12

Conserved Domains (1) summary

cl21598
Location:4 → 182

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_153105.7 → NP_694745.1 claudin-19 isoform 2

See identical proteins and their annotated locations for NP_694745.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional segment in the last splice junction, as compared to variant 1. The transcript is longer but the resulting isoform (2) is shorter at the C-terminus, as compared to isoform 1.

Source sequence(s)

AL606975, BX470153

Consensus CDS

CCDS18578.1

UniProtKB/TrEMBL

Q3UNX6

Related

ENSMUSP00000092418.4, ENSMUST00000094823.4

Conserved Domains (1) summary

cl21598
Location:4 → 182

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