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    CLDN12 claudin 12 [ Homo sapiens (human) ]

    Gene ID: 9069, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CLDN12provided by HGNC
    Official Full Name
    claudin 12provided by HGNC
    Primary source
    HGNC:HGNC:2034
    See related
    Ensembl:ENSG00000157224 MIM:611232; AllianceGenome:HGNC:2034
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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 is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and 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, Sep 2011]
    Expression
    Ubiquitous expression in colon (RPKM 15.9), prostate (RPKM 14.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See CLDN12 in Genome Data Viewer
    Location:
    7q21.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (90403461..90415954)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (91651753..91664246)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (90032775..90045268)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26245 Neighboring gene cell division cycle 42 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:90032955-90033480 Neighboring gene GTP binding protein 10 Neighboring gene Sharpr-MPRA regulatory region 3343 Neighboring gene Sharpr-MPRA regulatory region 14602 Neighboring gene uncharacterized LOC124901693 Neighboring gene PTTG1IP family member 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:90208498-90209697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26246 Neighboring gene small nucleolar RNA U13 Neighboring gene cyclin dependent kinase 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Reduced Claudin-12 Expression Predicts Poor Prognosis in Cervical Cancer. Rahman A, et al. Int J Mol Sci, 2021 Apr 6. PMID 33917356, Free PMC Article
    2. Tight Junction Protein Claudin-12 Is Involved in Cell Migration during Metastasis. Kolchakova D, et al. Biomolecules, 2021 Apr 25. PMID 33922921, Free PMC Article
    3. COPII cargo claudin-12 promotes hepatitis C virus entry. Huang J, et al. J Viral Hepat, 2019 Feb. PMID 30339745
    4. Prognostic significance of Claudin 12 in estrogen receptor-negative breast cancer. Iravani O, et al. J Clin Pathol, 2016 Oct. PMID 26926102
    5. Distribution of the tight junction proteins ZO-1, occludin, and claudin-4, -8, and -12 in bladder epithelium. Acharya P, et al. Am J Physiol Renal Physiol, 2004 Aug. PMID 15068973

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tight Junction Protein Claudin-12 Is Involved in Cell Migration during Metastasis.
      Title: Tight Junction Protein Claudin-12 Is Involved in Cell Migration during Metastasis.
    2. Reduced Claudin-12 Expression Predicts Poor Prognosis in Cervical Cancer.
      Title: Reduced Claudin-12 Expression Predicts Poor Prognosis in Cervical Cancer.
    3. We found that COPII cargo CLDN12 is important for Hepatitis C Virus entry.
      Title: COPII cargo claudin-12 promotes hepatitis C virus entry.
    4. CLDN 12 expression could be clinically useful for predicting the survival of the estrogen receptor (ER)-negative subgroup of patients with breast cancer.
      Title: Prognostic significance of Claudin 12 in estrogen receptor-negative breast cancer.
    5. Knockdown of claudin-3, claudin-4, and claudin-12, but not claudin-1, increased breast cancer MCF-7 cell migration with maximal effects observed in claudin-12 siRNA-transfected cells.
      Title: Interleukin-18 enhances breast cancer cell migration via down-regulation of claudin-12 and induction of the p38 MAPK pathway.
    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. Differential expression of genes encoding claudins in colorectal cancer suggests that these tight junction proteins may be associated to and involved in tumorigenesis.
      Title: Differential expression of genes encoding tight junction proteins in colorectal cancer: frequent dysregulation of claudin-1, -8 and -12.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of claudin 12 (CLDN12) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    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 
    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
    		  
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    NOT involved_in tight junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lateral plasma membrane 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 

    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_001185072.3 → NP_001172001.1  claudin-12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC006153
      Consensus CDS
      CCDS5618.1
      UniProtKB/Swiss-Prot
      D6W5Q4, P56749, Q7LDZ0
      UniProtKB/TrEMBL
      B2R687
      Related
      ENSP00000419053.1, ENST00000496677.6

    2. NM_001185073.3 → NP_001172002.1  claudin-12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC006153
      Consensus CDS
      CCDS5618.1
      UniProtKB/Swiss-Prot
      D6W5Q4, P56749, Q7LDZ0
      UniProtKB/TrEMBL
      B2R687
      Related
      ENSP00000378103.1, ENST00000394605.2

    3. NM_012129.5 → NP_036261.1  claudin-12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC006153
      Consensus CDS
      CCDS5618.1
      UniProtKB/Swiss-Prot
      D6W5Q4, P56749, Q7LDZ0
      UniProtKB/TrEMBL
      B2R687
      Related
      ENSP00000287916.4, ENST00000287916.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      90403461..90415954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      91651753..91664246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56749.1 GenPept UniProtKB/Swiss-Prot:P56749

    Gene LinkOut

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

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