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Aliases for CLDN12 Gene

Aliases for CLDN12 Gene

  • Claudin 12 2 3 5
  • Claudin-12 3

External Ids for CLDN12 Gene

Previous GeneCards Identifiers for CLDN12 Gene

  • GC07P088568
  • GC07P089630
  • GC07P089644
  • GC07P089677
  • GC07P089871
  • GC07P090013
  • GC07P084642

Summaries for CLDN12 Gene

Entrez Gene Summary for CLDN12 Gene

  • 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]

GeneCards Summary for CLDN12 Gene

CLDN12 (Claudin 12) is a Protein Coding gene. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity.

UniProtKB/Swiss-Prot for CLDN12 Gene

  • Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

Gene Wiki entry for CLDN12 Gene

Additional gene information for CLDN12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN12 Gene

Genomics for CLDN12 Gene

GeneHancer (GH) Regulatory Elements for CLDN12 Gene

Promoters and enhancers for CLDN12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J090402 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 650.3 +20.4 20400 3 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF766 ENSG00000273299 CLDN12 CDK14 GTPBP10 STEAP2 GC07P090415
GH07J090382 Enhancer 0.5 Ensembl ENCODE 650.7 +0.2 158 2.5 JUND CLDN12 STEAP2 GTPBP10 GC07P090388
GH07J090623 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.3 +241.5 241518 3.2 JUN CEBPB E2F4 EP300 SP1 JUND POLR2A FOS RCOR1 CHD2 ENSG00000223969 CDK14 ENSG00000251154 CLDN12 GTPBP10 TVP23CP1 GC07P090613
GH07J090629 Enhancer 0.6 ENCODE 10.9 +245.8 245791 0.1 SMARCA5 CTCF ZNF654 RAD21 RFX5 ZNF217 ZNF143 SMC3 DEK ENSG00000223969 CDK14 ENSG00000251154 CLDN12 TVP23CP1 GC07P090613
GH07J090574 Enhancer 0.4 ENCODE 9.8 +190.8 190829 0.9 SP1 HNF4A YY1 ENSG00000223969 CDK14 ENSG00000251154 CLDN12 LOC102723899
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLDN12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLDN12 gene promoter:
  • ZIC2
  • AP-1
  • C/EBPbeta
  • ER-alpha
  • E47
  • AML1a
  • STAT5B
  • c-Myc
  • Max
  • GATA-1

Genomic Locations for CLDN12 Gene

Genomic Locations for CLDN12 Gene
chr7:90,383,721-90,513,402
(GRCh38/hg38)
Size:
129,682 bases
Orientation:
Plus strand
chr7:90,013,035-90,142,716
(GRCh37/hg19)
Size:
129,682 bases
Orientation:
Plus strand

Genomic View for CLDN12 Gene

Genes around CLDN12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN12 Gene

Proteins for CLDN12 Gene

  • Protein details for CLDN12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56749-CLD12_HUMAN
    Recommended name:
    Claudin-12
    Protein Accession:
    P56749
    Secondary Accessions:
    • D6W5Q4
    • Q7LDZ0

    Protein attributes for CLDN12 Gene

    Size:
    244 amino acids
    Molecular mass:
    27110 Da
    Quaternary structure:
    • Interacts with OCLN (PubMed:20375010).

neXtProt entry for CLDN12 Gene

Post-translational modifications for CLDN12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN12 Gene

No data available for DME Specific Peptides for CLDN12 Gene

Domains & Families for CLDN12 Gene

Gene Families for CLDN12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CLDN12 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLDN12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56749

UniProtKB/Swiss-Prot:

CLD12_HUMAN :
  • Belongs to the claudin family.
Family:
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN12: view

Function for CLDN12 Gene

Molecular function for CLDN12 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
GENATLAS Biochemistry:
claudin 12,clostridium perfringens enterotoxin receptor,integral membrane protein,claudin family of major structural components of tight junction (TJ) strands

Gene Ontology (GO) - Molecular Function for CLDN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 20375010
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN12: view
genes like me logo Genes that share phenotypes with CLDN12: view

Animal Model Products

CRISPR Products

miRNA for CLDN12 Gene

miRTarBase miRNAs that target CLDN12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN12

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLDN12 Gene

Localization for CLDN12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN12 Gene

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLDN12 gene
Compartment Confidence
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for CLDN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 20375010
GO:0005923 bicellular tight junction IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016328 lateral plasma membrane IEA --
genes like me logo Genes that share ontologies with CLDN12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLDN12 Gene

Pathways & Interactions for CLDN12 Gene

genes like me logo Genes that share pathways with CLDN12: view

Gene Ontology (GO) - Biological Process for CLDN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
genes like me logo Genes that share ontologies with CLDN12: view

No data available for SIGNOR curated interactions for CLDN12 Gene

Drugs & Compounds for CLDN12 Gene

(1) Drugs for CLDN12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with CLDN12: view

Transcripts for CLDN12 Gene

mRNA/cDNA for CLDN12 Gene

Unigene Clusters for CLDN12 Gene

Claudin 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN12

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN12 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: - - - - -
SP5: - -
SP6: - - - - -
SP7: - - - -
SP8: - - -

Relevant External Links for CLDN12 Gene

GeneLoc Exon Structure for
CLDN12
ECgene alternative splicing isoforms for
CLDN12

Expression for CLDN12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLDN12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLDN12 Gene

This gene is overexpressed in Frontal cortex (39.0) and Retina (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLDN12 Gene



Protein tissue co-expression partners for CLDN12 Gene

NURSA nuclear receptor signaling pathways regulating expression of CLDN12 Gene:

CLDN12

SOURCE GeneReport for Unigene cluster for CLDN12 Gene:

Hs.731917

Evidence on tissue expression from TISSUES for CLDN12 Gene

  • Nervous system(4.9)
  • Intestine(3.1)
  • Lung(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CLDN12: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLDN12 Gene

Orthologs for CLDN12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLDN12 34 33
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN12 34 33
  • 93.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLDN12 34 33
  • 89.07 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLDN12 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn12 33
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia Cldn12 16 34 33
  • 87.43 (n)
chicken
(Gallus gallus)
Aves CLDN12 34 33
  • 73.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN12 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cldn12 33
  • 69.55 (n)
Str.7430 33
zebrafish
(Danio rerio)
Actinopterygii cldn12 34 33
  • 58 (n)
OneToOne
Species where no ortholog for CLDN12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLDN12 Gene

ENSEMBL:
Gene Tree for CLDN12 (if available)
TreeFam:
Gene Tree for CLDN12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLDN12: view image

Paralogs for CLDN12 Gene

No data available for Paralogs for CLDN12 Gene

Variants for CLDN12 Gene

Sequence variations from dbSNP and Humsavar for CLDN12 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000392476 -- 90,406,135(+) T/C intron_variant
rs1000492826 -- 90,410,517(+) TTTTTTT/TTTTTT intron_variant
rs1000602051 -- 90,403,743(+) G/A intron_variant
rs1000928956 -- 90,411,590(+) G/T intron_variant
rs1000960142 -- 90,404,778(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CLDN12 Gene

Variant ID Type Subtype PubMed ID
esv24241 CNV loss 19812545
esv3891163 CNV loss 25118596
nsv607785 CNV loss 21841781

Variation tolerance for CLDN12 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLDN12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLDN12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN12 Gene

Disorders for CLDN12 Gene

Additional Disease Information for CLDN12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CLDN12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLDN12 Gene

Publications for CLDN12 Gene

  1. Claudin association with CD81 defines hepatitis C virus entry. (PMID: 20375010) Harris HJ … McKeating JA (The Journal of biological chemistry 2010) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58

Products for CLDN12 Gene

Sources for CLDN12 Gene

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