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    Cldn12 claudin 12 [ Mus musculus (house mouse) ]

    Gene ID: 64945, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Cldn12provided by MGI
    Official Full Name
    claudin 12provided by MGI
    Primary source
    MGI:MGI:1929288
    See related
    Ensembl:ENSMUSG00000046798 AllianceGenome:MGI:1929288
    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. This gene, along with several other family members, is expressed in the inner ear. The protein encoded by this gene and another family member, claudin 2, are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in kidney adult (RPKM 18.9), liver adult (RPKM 14.7) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cldn12 in Genome Data Viewer
    Location:
    5 A1; 5 2.98 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (5555109..5564953, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (5505015..5514976, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene PTTG1IP family member 2 Neighboring gene STARR-seq mESC enhancer starr_12343 Neighboring gene predicted gene, 30325 Neighboring gene GTP-binding protein 10 (putative) Neighboring gene family with sequence similarity 237, member B

    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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    Related articles in PubMed

    1. Myelin barrier breakdown, mechanical hypersensitivity, and painfulness in polyneuropathy with claudin-12 deficiency. Chen JT, et al. Neurobiol Dis, 2023 Sep. PMID 37527762
    2. Targeted Deletion of the Claudin12 Gene in Mice Increases Articular Cartilage and Inhibits Chondrocyte Differentiation. Xing W, et al. Front Endocrinol (Lausanne), 2022. PMID 35937800, Free PMC Article
    3. Claudin-12 Deficiency Inhibits Tumor Growth by Impairing Transendothelial Migration of Myeloid-Derived Suppressor Cells. Cao H, et al. Cancer Res, 2022 Jul 5. PMID 35580275
    4. Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability. Plain A, et al. Int J Mol Sci, 2020 Mar 18. PMID 32197346, Free PMC Article
    5. The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities. Troy TC, et al. Mol Biotechnol, 2007 Jun. PMID 17914196

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myelin barrier breakdown, mechanical hypersensitivity, and painfulness in polyneuropathy with claudin-12 deficiency.
      Title: Myelin barrier breakdown, mechanical hypersensitivity, and painfulness in polyneuropathy with claudin-12 deficiency.
    2. Claudin-2 and claudin-12 form independent, complementary pores required to maintain calcium homeostasis.
      Title: Claudin-2 and claudin-12 form independent, complementary pores required to maintain calcium homeostasis.
    3. Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability.
      Title: Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability.
    4. Present study thus shows that claudin-12 is not essential in establishing or maintaining blood-brain barrier tight juctionss (TJs) integrity. Claudin-12 is rather expressed in cells that typically lack TJs suggesting that claudin-12 plays a role other than forming classical TJs
      Title: Claudin-12 is not required for blood-brain barrier tight junction function.
    5. 1,25(OH)2D3 downregulates cadherin-17 and upregulates claudin-2 and claudin-12 in the intestine, suggesting that 1,25(OH)2D3, by regulating these epithelial cell junction proteins, can route calcium through the paracellular path
      Title: Mechanisms involved in vitamin D mediated intestinal calcium absorption and in non-classical actions of vitamin D.
    6. These findings strongly suggest that claudin-2- and/or claudin-12-based tight junctions form paracellular Ca(2+) channels in intestinal epithelia, and they highlight a novel mechanism behind vitamin D-dependent calcium homeostasis.
      Title: Tight junction proteins claudin-2 and -12 are critical for vitamin D-dependent Ca2+ absorption between enterocytes.
    7. Claudin-12 is expressed at the variety of epithelial tissues in inner ear including Organ of Corti, stria vascularis, Reissner's membrane, spiral limbus, vestibular sensory epithelia, and dark cell area.
      Title: Expression patterns of claudins, tight junction adhesion molecules, in the inner ear.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  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
    		  
    Process Evidence Code Pubs
    involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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-12

    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_001193659.2 → NP_001180588.1  claudin-12

      See identical proteins and their annotated locations for NP_001180588.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC068663
      Consensus CDS
      CCDS19074.1
      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43
      Related
      ENSMUSP00000111105.2, ENSMUST00000115445.8

    2. NM_001193660.2 → NP_001180589.1  claudin-12

      See identical proteins and their annotated locations for NP_001180589.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC068663
      Consensus CDS
      CCDS19074.1
      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43
      Related
      ENSMUSP00000136988.2, ENSMUST00000179804.8

    3. NM_001193661.2 → NP_001180590.1  claudin-12

      See identical proteins and their annotated locations for NP_001180590.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC068663
      Consensus CDS
      CCDS19074.1
      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43
      Related
      ENSMUSP00000111106.2, ENSMUST00000115446.8

    4. NM_001425672.1 → NP_001412601.1  claudin-12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC068663
      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43

    5. NM_001425673.1 → NP_001412602.1  claudin-12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC068663
      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43

    6. NM_022890.3 → NP_075028.1  claudin-12

      See identical proteins and their annotated locations for NP_075028.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variants 2-6 encode the same protein.
      Source sequence(s)
      AC068663
      Consensus CDS
      CCDS19074.1
      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43
      Related
      ENSMUSP00000061928.8, ENSMUST00000060947.14

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      5555109..5564953 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240674.1 → XP_011238976.1  claudin-12 isoform X1

      See identical proteins and their annotated locations for XP_011238976.1

      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43

    2. XM_006503598.5 → XP_006503661.1  claudin-12 isoform X1

      See identical proteins and their annotated locations for XP_006503661.1

      UniProtKB/Swiss-Prot
      Q3TM65, Q8BH13, Q9ET43
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ET43.2 GenPept UniProtKB/Swiss-Prot:Q9ET43

    Gene LinkOut

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

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