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    Cldn10 claudin 10 [ Mus musculus (house mouse) ]

    Gene ID: 58187, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cldn10provided by MGI
    Official Full Name
    claudin 10provided by MGI
    Primary source
    MGI:MGI:1913101
    See related
    Ensembl:ENSMUSG00000022132 AllianceGenome:MGI:1913101
    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
    Also known as
    Cldn10a; Cldn10b; D14Ertd728e; 6720456I16Rik
    Summary
    This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight unction 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. Six alternatively spliced transcript variants have been identified, which encode different isoforms with distinct electric charge of the first extracellular loop and with or without the fourth transmembrane region. These isoforms exhibit distinct localization and function in paracellular anion or cation permeability. [provided by RefSeq, Aug 2010]
    Expression
    Biased expression in kidney adult (RPKM 74.8), genital fat pad adult (RPKM 19.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cldn10 in Genome Data Viewer
    Location:
    14 E4; 14 62.55 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (119025283..119111937)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (118787871..118874525)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_37660 Neighboring gene predicted gene, 46484 Neighboring gene STARR-positive B cell enhancer ABC_E7353 Neighboring gene STARR-seq mESC enhancer starr_37661 Neighboring gene STARR-seq mESC enhancer starr_37663 Neighboring gene predicted gene, 22379 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:119195428-119195629 Neighboring gene predicted gene, 52105 Neighboring gene predicted gene, 41248 Neighboring gene predicted gene, 32382 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:119237797-119237998 Neighboring gene DAZ interacting protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E4125 Neighboring gene DnaJ heat shock protein family (Hsp40) member C3 Neighboring gene coiled-coil domain-containing protein 58 pseudogene

    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 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?
    1. Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.
      Title: Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.
    2. Unrecognized role of claudin-10b in basolateral membrane infoldings of the thick ascending limb.
      Title: Unrecognized role of claudin-10b in basolateral membrane infoldings of the thick ascending limb.
    3. Claudin-10a Deficiency Shifts Proximal Tubular Cl(-) Permeability to Cation Selectivity via Claudin-2 Redistribution.
      Title: Claudin-10a Deficiency Shifts Proximal Tubular Cl(-) Permeability to Cation Selectivity via Claudin-2 Redistribution.
    4. Severe individual renal phenotypes in claudin-10 and claudin-16 knockout mice are corrected by the additional deletion of the other claudin.
      Title: Deletion of claudin-10 rescues claudin-16-deficient mice from hypomagnesemia and hypercalciuria.
    5. ConclusionCLDN10 mutations cause a dysfunction in TJs in several tissues and, subsequently, abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity.
      Title: Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
    6. findings suggest that the axis IL-10/claudin-10 is a promising target for the development of therapeutic agents against aggressive melanoma
      Title: The axis IL-10/claudin-10 is implicated in the modulation of aggressiveness of melanoma cells by B-1 lymphocytes.
    7. localization of Cldn3, Cldn7 and Cldn10 proteins in the different compartments of murine endometrium up to day 8.5 of pregnancy (dpc) as well as in human endometrium and first trimester decidua
      Title: Claudin-3, claudin-7, and claudin-10 show different distribution patterns during decidualization and trophoblast invasion in mouse and human.
    8. These data identify claudin-10 as a key factor in control of cation selectivity and transport in the thick ascending limb, and deficiency in this pathway as a cause of nephrocalcinosis.
      Title: Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis.
    9. Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function.
      Title: Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function.
    10. alternative splicing of claudin-10 generates unique permselectivities and might contribute to the variable paracellular transport observed along the nephron
      Title: Two splice variants of claudin-10 in the kidney create paracellular pores with different ion selectivities.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  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 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 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 monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in paracellular transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of monoatomic ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of monoatomic ion transport ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    claudin-10
    Names
    claudin 10B
    claudin-10A

    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_001160096.1 → NP_001153568.1  claudin-10 isoform a_i1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a_v1) lacks an alternate in-frame segment in the 5' coding region, compared to variant a. The resulting isoform (a_i1) lacks an internal segment within the first extracellular loop, compared to isoform a. This variant is expressed only in kidney and uterus.
      Source sequence(s)
      AI851016, CA467408, CA481582
      UniProtKB/Swiss-Prot
      Q9Z0S6
      Conserved Domains (1) summary
      cl21598
      Location:9 → 158
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001160097.1 → NP_001153569.1  claudin-10 isoform a_i2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a_v2) lacks an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (a_i2) lacks an internal segment including the entire fourth transmembrane region, compared to isoform a. This variant is expressed only in kidney and uterus.
      Source sequence(s)
      AI851016, AK020131, CA467408, CK332009
      Consensus CDS
      CCDS49566.1
      UniProtKB/Swiss-Prot
      Q9Z0S6
      Related
      ENSMUSP00000071476.7, ENSMUST00000071546.14
      Conserved Domains (1) summary
      cl21598
      Location:9 → 148
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    3. NM_001160098.1 → NP_001153570.1  claudin-10 isoform a_i3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a_v3) lacks an alternate in-frame segment in the 5' coding region and an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (a_i3) lacks an internal segment within the first extracellular loop and an internal segment including the entire fourth transmembrane region, compared to isoform a. This variant is expressed only in kidney and uterus.
      Source sequence(s)
      AI851016, CA467408, CA481582
      UniProtKB/Swiss-Prot
      Q9Z0S6
      Conserved Domains (1) summary
      cl21598
      Location:9 → 129
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    4. NM_001160099.1 → NP_001153571.1  claudin-10 isoform b_i1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b_v1) differs in the 5' UTR and 5' coding region, representing use of an alternate promoter, and lacks an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (b_i1) has a longer and distinct N-terminus and lacks an internal segment including the entire fourth transmembrane region, compared to isoform a. This variant is expressed in all tissues tested, with lowest expression in liver and highest expression in kidney.
      Source sequence(s)
      AI851016, CK794879
      UniProtKB/Swiss-Prot
      Q9Z0S6
      Conserved Domains (1) summary
      cl21598
      Location:4 → 150
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    5. NM_021386.4 → NP_067361.2  claudin-10 isoform b

      See identical proteins and their annotated locations for NP_067361.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) differs in the 5' UTR and 5' coding region, representing use of an alternate promoter, compared to variant a. The resulting isoform (b) has a longer and distinct N-terminus, compared to isoform a. This variant is expressed in all tissues tested, with lowest expression in liver and highest expression in kidney.
      Source sequence(s)
      AI851016, CK794879
      Consensus CDS
      CCDS37010.1
      UniProtKB/Swiss-Prot
      E9PVC8, E9PWP4, E9QMP1, Q8VC62, Q9CX57, Q9Z0S6
      Related
      ENSMUSP00000097889.4, ENSMUST00000100314.4
      Conserved Domains (1) summary
      pfam00822
      Location:4 → 179
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    6. NM_023878.3 → NP_076367.2  claudin-10 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longest transcript and encodes isoform a, which is predicted to span the membrane four times with a structure of two extracellular loops, four transmembrane regions and a cytoplasmic tail. This variant is expressed only in kidney and uterus.
      Source sequence(s)
      AI851016, AK020131, CA467408, CK332009
      Consensus CDS
      CCDS37009.1
      UniProtKB/Swiss-Prot
      Q9Z0S6
      Related
      ENSMUSP00000041616.6, ENSMUST00000047761.13
      Conserved Domains (1) summary
      cl21598
      Location:9 → 177
      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_000080.7 Reference GRCm39 C57BL/6J

      Range
      119025283..119111937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z0S6.2 GenPept UniProtKB/Swiss-Prot:Q9Z0S6

    Gene LinkOut

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

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