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Cldn19 claudin 19 [ Mus musculus (house mouse) ]

Gene ID: 242653, updated on 23-Jun-2021

Summary

Official Symbol
Cldn19provided by MGI
Official Full Name
claudin 19provided by MGI
Primary source
MGI:MGI:3033992
See related
Ensembl:ENSMUSG00000066058
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
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Genomic context

See Cldn19 in Genome Data Viewer
Location:
4; 4 D2.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (118928046..118935043)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene expressed sequence AU022252 Neighboring gene prolyl 3-hydroxylase 1 Neighboring gene predicted gene 12927 Neighboring gene Y box protein 1 Neighboring gene peptidyl prolyl isomerase H

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

General gene information

Markers

Homology

Clone Names

  • MGC141195

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
 
Component Evidence Code Pubs
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
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

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)

  1. NM_001038590.1NP_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
    Q9ET38
    Related
    ENSMUSP00000081334.6, ENSMUST00000084309.12
    Conserved Domains (1) summary
    cl21598
    Location:4182
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_153105.7NP_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/Swiss-Prot
    Q9ET38
    UniProtKB/TrEMBL
    Q3UNX6
    Related
    ENSMUSP00000092418.4, ENSMUST00000094823.4
    Conserved Domains (1) summary
    cl21598
    Location:4182
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    119112638..119119635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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