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    Cldn14 claudin 14 [ Mus musculus (house mouse) ]

    Gene ID: 56173, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cldn14provided by MGI
    Official Full Name
    claudin 14provided by MGI
    Primary source
    MGI:MGI:1860425
    See related
    Ensembl:ENSMUSG00000047109 AllianceGenome:MGI:1860425
    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 of tight junction proteins. The encoded protein is an integral membrane protein that may function in maintaining apical membrane polarization in tight junctions located between outer hair cells and supporting cells. Loss of function of this gene is associated with hearing problems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in genital fat pad adult (RPKM 18.8), liver adult (RPKM 9.9) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cldn14 in Genome Data Viewer
    Location:
    16 C4; 16 54.99 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (93715919..93809733, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (93919031..94008837, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30881 Neighboring gene STARR-positive B cell enhancer ABC_E3176 Neighboring gene STARR-seq mESC enhancer starr_41545 Neighboring gene microrchidia 3 Neighboring gene STARR-positive B cell enhancer ABC_E3177 Neighboring gene STARR-seq mESC enhancer starr_41548 Neighboring gene chromatin assembly factor 1, subunit B Neighboring gene STARR-positive B cell enhancer mm9_chr16:93914500-93914801 Neighboring gene STARR-positive B cell enhancer ABC_E10925 Neighboring gene STARR-seq mESC enhancer starr_41549 Neighboring gene predicted gene, 31012 Neighboring gene STARR-seq mESC enhancer starr_41555 Neighboring gene RIKEN cDNA 2410003I16 gene Neighboring gene STARR-seq mESC enhancer starr_41557 Neighboring gene predicted gene, 31175 Neighboring gene single-minded family bHLH transcription factor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Ben-Yosef T, et al. Hum Mol Genet, 2003 Aug 15. PMID 12913076
    2. Loss of inner hair cell ribbon synapses and auditory nerve fiber regression in Cldn14 knockout mice. Claußen M, et al. Hear Res, 2020 Jun. PMID 32251970
    3. Stromal Claudin14-heterozygosity, but not deletion, increases tumour blood leakage without affecting tumour growth. Baker M, et al. PLoS One, 2013. PMID 23675413, Free PMC Article
    4. Measurements of ionic concentrations along with endocochlear potential in wild-type and claudin 14 knockout mice. Shiraiwa Y, et al. Auris Nasus Larynx, 2018 Jun. PMID 28811056
    5. Parathyroid hormone controls paracellular Ca(2+) transport in the thick ascending limb by regulating the tight-junction protein Claudin14. Sato T, et al. Proc Natl Acad Sci U S A, 2017 Apr 18. PMID 28373577, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diabetes compromises tight junction protein claudin 14 in the urinary bladder.
      Title: Diabetes compromises tight junction protein claudin 14 in the urinary bladder.
    2. Loss of inner hair cell ribbon synapses and auditory nerve fiber regression in Cldn14 knockout mice.
      Title: Loss of inner hair cell ribbon synapses and auditory nerve fiber regression in Cldn14 knockout mice.
    3. Localization and regulation of claudin-14 in experimental models of hypercalcemia.
      Title: Localization and regulation of claudin-14 in experimental models of hypercalcemia.
    4. These findings suggest that (1) the changes in endolymphatic ion concentrations might not be involved in hair cells degeneration in Cldn14(-/-), (2) [Ca]e might be regulated by endocochlear potential in both Wt and Cldn14(-/-).
      Title: Measurements of ionic concentrations along with endocochlear potential in wild-type and claudin 14 knockout mice.
    5. High Cldn14 is associated with hypoparathyroidism.
      Title: Parathyroid hormone controls paracellular Ca(2+) transport in the thick ascending limb by regulating the tight-junction protein Claudin14.
    6. claudin-14-targeting miR-9 and miR-374, rather than promoter of the claudin-14 gene itself, regulated through histone deacetylation
      Title: Epigenetic regulation of microRNAs controlling CLDN14 expression as a mechanism for renal calcium handling.
    7. describe a CaSR-NFATc1-microRNA-claudin-14 signaling pathway in the kidney that underlies paracellular Ca(++) reabsorption through the tight junction
      Title: Claudin-14 underlies Ca⁺⁺-sensing receptor-mediated Ca⁺⁺ metabolism via NFAT-microRNA-based mechanisms.
    8. Stromal Claudin14-heterozygosity, but not deletion, increases tumor blood leakage without affecting tumor growth.
      Title: Stromal Claudin14-heterozygosity, but not deletion, increases tumour blood leakage without affecting tumour growth.
    9. Activation of the Ca(2+)-sensing receptor in the thick ascending limb increases Cldn14 expression, which in turn blocks the paracellular reabsorption of Ca(2+).
      Title: Activation of the Ca(2+)-sensing receptor increases renal claudin-14 expression and urinary Ca(2+) excretion.
    10. MiR-9 and miR-374 transcript levels are regulated by extracellular Ca(++) in a reciprocal manner as claudin-14.
      Title: Claudin-14 regulates renal Ca⁺⁺ transport in response to CaSR signalling via a novel microRNA pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 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
    		  
    Component Evidence Code Pubs
    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
    		  
    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 

    General protein information

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    Preferred Names
    claudin-14

    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_001165925.1 → NP_001159397.1  claudin-14

      See identical proteins and their annotated locations for NP_001159397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC168220, AI851731, BX522097
      Consensus CDS
      CCDS28345.1
      UniProtKB/Swiss-Prot
      Q9D284, Q9Z0S3
      UniProtKB/TrEMBL
      A2RSP0
      Related
      ENSMUSP00000136156.2, ENSMUST00000177648.8
      Conserved Domains (1) summary
      cl21598
      Location:23 → 181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001165926.1 → NP_001159398.1  claudin-14

      See identical proteins and their annotated locations for NP_001159398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC168220
      Consensus CDS
      CCDS28345.1
      UniProtKB/Swiss-Prot
      Q9D284, Q9Z0S3
      UniProtKB/TrEMBL
      A2RSP0
      Related
      ENSMUSP00000126455.2, ENSMUST00000169391.8
      Conserved Domains (1) summary
      cl21598
      Location:23 → 181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    3. NM_019500.4 → NP_062373.3  claudin-14

      See identical proteins and their annotated locations for NP_062373.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC165961, AC168220, AI851731, BE863348
      Consensus CDS
      CCDS28345.1
      UniProtKB/Swiss-Prot
      Q9D284, Q9Z0S3
      UniProtKB/TrEMBL
      A2RSP0
      Related
      ENSMUSP00000062045.5, ENSMUST00000050962.5
      Conserved Domains (1) summary
      cl21598
      Location:23 → 181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      93715919..93809733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160034.1 → XP_036015927.1  claudin-14 isoform X1

      UniProtKB/Swiss-Prot
      Q9D284, Q9Z0S3
      UniProtKB/TrEMBL
      A2RSP0
      Conserved Domains (1) summary
      cl21598
      Location:23 → 181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. XM_006523067.5 → XP_006523130.1  claudin-14 isoform X1

      See identical proteins and their annotated locations for XP_006523130.1

      UniProtKB/Swiss-Prot
      Q9D284, Q9Z0S3
      UniProtKB/TrEMBL
      A2RSP0
      Conserved Domains (1) summary
      cl21598
      Location:23 → 181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z0S3.2 GenPept UniProtKB/Swiss-Prot:Q9Z0S3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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