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Aliases for CLDN10 Gene

Aliases for CLDN10 Gene

  • Claudin 10 2 3 5
  • Oligodendrocyte-Specific Protein-Like 3 4
  • OSP-Like Protein 3
  • Claudin-10 3
  • OSP-Like 4
  • CPETRL3 3
  • HELIX 3
  • OSP-L 3
  • OSPL 3

External Ids for CLDN10 Gene

Previous GeneCards Identifiers for CLDN10 Gene

  • GC13P094445
  • GC13P090473
  • GC13P094922
  • GC13P093783
  • GC13P094883
  • GC13P096085
  • GC13P076683

Summaries for CLDN10 Gene

Entrez Gene Summary for CLDN10 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. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]

GeneCards Summary for CLDN10 Gene

CLDN10 (Claudin 10) is a Protein Coding gene. Diseases associated with CLDN10 include Helix Syndrome and Anhidrosis. 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. An important paralog of this gene is CLDN15.

UniProtKB/Swiss-Prot for CLDN10 Gene

  • Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henles loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28771254, PubMed:28686597).

Gene Wiki entry for CLDN10 Gene

Additional gene information for CLDN10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN10 Gene

Genomics for CLDN10 Gene

GeneHancer (GH) Regulatory Elements for CLDN10 Gene

Promoters and enhancers for CLDN10 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
GH13J095551 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 650.1 +119.3 119311 1.8 SP1 CTCF ZNF202 RNF2 POLR2A ZFP36 REST EZH2 CLDN10 TGDS DNAJC3 DNAJC3-DT GC13P095540 GC13M095580
GH13J095433 Promoter 0.5 EPDnew 650.7 0.0 -19 0.1 CLDN10 LOC105370321
GH13J095403 Enhancer 1 Ensembl ENCODE 11.2 -29.4 -29362 1.6 ELF3 SIN3A ZNF2 ZNF48 RAD21 ARID2 SCRT2 ZNF143 BCLAF1 ZNF654 LOC105370321 CLDN10 ABCC4
GH13J095485 Enhancer 1 Ensembl ENCODE 11.1 +51.7 51702 0.6 HDAC1 TCF12 GATA2 RCOR1 EGR2 ZBTB11 NFIC KLF16 GLIS1 MYNN CLDN10 ABCC4 CLDN10-AS1
GH13J095534 Enhancer 1 ENCODE 10.1 +101.4 101418 2 PKNOX1 FOXA2 ARID4B GLI4 ZNF2 GLIS2 FOS KLF13 ZNF202 YY2 CLDN10-AS1 TGDS RPL21P112 ABCC4 CLDN10 GC13P095540
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLDN10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLDN10 gene promoter:

Genomic Locations for CLDN10 Gene

Genomic Locations for CLDN10 Gene
chr13:95,433,599-95,579,759
(GRCh38/hg38)
Size:
146,161 bases
Orientation:
Plus strand
chr13:96,085,853-96,232,013
(GRCh37/hg19)

Genomic View for CLDN10 Gene

Genes around CLDN10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN10 Gene

Proteins for CLDN10 Gene

  • Protein details for CLDN10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78369-CLD10_HUMAN
    Recommended name:
    Claudin-10
    Protein Accession:
    P78369
    Secondary Accessions:
    • Q6IBF9
    • Q96N78

    Protein attributes for CLDN10 Gene

    Size:
    228 amino acids
    Molecular mass:
    24488 Da
    Quaternary structure:
    • Can form homodimers both in trans (interaction between CLDN10 molecules in opposing membranes) and in cis (interaction between CLDN10 molecules within one membrane).

    Alternative splice isoforms for CLDN10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLDN10 Gene

Post-translational modifications for CLDN10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLDN10 Gene

Domains & Families for CLDN10 Gene

Gene Families for CLDN10 Gene

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

Protein Domains for CLDN10 Gene

Graphical View of Domain Structure for InterPro Entry

P78369

UniProtKB/Swiss-Prot:

CLD10_HUMAN :
  • The fourth transmembrane region (161-181) is necessary for integration into tight junctions.
  • Belongs to the claudin family.
Domain:
  • The fourth transmembrane region (161-181) is necessary for integration into tight junctions.
Family:
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN10: view

Function for CLDN10 Gene

Molecular function for CLDN10 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henles loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28771254, PubMed:28686597).
GENATLAS Biochemistry:
claudin 10,clostridium perfringens enterotoxin receptor,integral membrane protein,claudin family of major structural components of tight junction (TJ) strands,widely expressed

Phenotypes From GWAS Catalog for CLDN10 Gene

Gene Ontology (GO) - Molecular Function for CLDN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN10: view
genes like me logo Genes that share phenotypes with CLDN10: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLDN10 Gene

Localization for CLDN10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN10 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 CLDN10 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CLDN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA,IEA 28771254
GO:0005923 bicellular tight junction ISS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLDN10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLDN10 Gene

Pathways & Interactions for CLDN10 Gene

genes like me logo Genes that share pathways with CLDN10: view

Gene Ontology (GO) - Biological Process for CLDN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007155 cell adhesion TAS 10508613
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0043269 regulation of ion transport IMP 28686597
genes like me logo Genes that share ontologies with CLDN10: view

No data available for SIGNOR curated interactions for CLDN10 Gene

Drugs & Compounds for CLDN10 Gene

(1) Drugs for CLDN10 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 CLDN10: view

Transcripts for CLDN10 Gene

Unigene Clusters for CLDN10 Gene

Claudin 10:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN10 Gene

No ASD Table

Relevant External Links for CLDN10 Gene

GeneLoc Exon Structure for
CLDN10
ECgene alternative splicing isoforms for
CLDN10

Expression for CLDN10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLDN10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLDN10 Gene

This gene is overexpressed in Pancreas (x12.7), Brain - Amygdala (x4.9), and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for CLDN10 Gene

This gene is overexpressed in Plasma (56.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLDN10 Gene



NURSA nuclear receptor signaling pathways regulating expression of CLDN10 Gene:

CLDN10

SOURCE GeneReport for Unigene cluster for CLDN10 Gene:

Hs.534377

mRNA Expression by UniProt/SwissProt for CLDN10 Gene:

P78369-CLD10_HUMAN
Tissue specificity: Expressed in the kidney, eccrine sweat glands and in all layers of the epidermis. In the kidney, it is detected in the thick ascending limb of Henles loop (TAL) (PubMed:28771254, PubMed:28686597). In the sweat glands, it is expressed in cells from secretory portions, corresponding to the clear cells (PubMed:28686597).

Evidence on tissue expression from TISSUES for CLDN10 Gene

  • Kidney(4.5)
  • Liver(4)
  • Muscle(4)
  • Nervous system(2.5)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with CLDN10: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLDN10 Gene

Orthologs for CLDN10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLDN10 34 33
  • 99.42 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLDN10 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN10 34 33
  • 93.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLDN10 34 33
  • 92.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn10 33
  • 88.6 (n)
mouse
(Mus musculus)
Mammalia Cldn10 16 34 33
  • 88.3 (n)
chicken
(Gallus gallus)
Aves CLDN10 34 33
  • 79.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN10 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496232 33
  • 69.15 (n)
zebrafish
(Danio rerio)
Actinopterygii cldn10a 34 33
  • 67.98 (n)
OneToMany
cldn10b 34
  • 63 (a)
OneToMany
CLDN10 (4 of 5) 34
  • 37 (a)
OneToMany
CLDN10 (3 of 5) 34
  • 31 (a)
OneToMany
cldn10l2 34
  • 26 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4877 33
Species where no ortholog for CLDN10 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)
  • 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 CLDN10 Gene

ENSEMBL:
Gene Tree for CLDN10 (if available)
TreeFam:
Gene Tree for CLDN10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLDN10: view image

Paralogs for CLDN10 Gene

Paralogs for CLDN10 Gene

(18) SIMAP similar genes for CLDN10 Gene using alignment to 2 proteins:

  • CLD10_HUMAN
  • Q5W075_HUMAN
genes like me logo Genes that share paralogs with CLDN10: view

Variants for CLDN10 Gene

Sequence variations from dbSNP and Humsavar for CLDN10 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs759408749 pathogenic, HELIX SYNDROME, HELIX syndrome (HELIX) [MIM:617671] 95,552,897(+) C/A/G coding_sequence_variant, intron_variant, missense_variant
rs930701747 pathogenic, HELIX SYNDROME 95,552,755(+) T/C/G initiator_codon_variant, intron_variant, missense_variant
VAR_080054 HELIX syndrome (HELIX) [MIM:617671] p.Ser131Leu
rs201348784 uncertain-significance, not provided 95,577,271(+) G/T coding_sequence_variant, missense_variant
rs374567220 uncertain-significance, not provided 95,560,229(+) C/A/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CLDN10 Gene

Variant ID Type Subtype PubMed ID
esv2747847 CNV deletion 23290073
esv3550921 CNV deletion 23714750
nsv1043019 CNV gain 25217958
nsv478384 CNV novel sequence insertion 20440878
nsv525760 CNV loss 19592680
nsv7246 OTHER inversion 18451855

Variation tolerance for CLDN10 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLDN10 Gene

Human Gene Mutation Database (HGMD)
CLDN10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLDN10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN10 Gene

Disorders for CLDN10 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CLDN10 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
helix syndrome
  • helix
anhidrosis
  • absence of sweating
biphasic synovial sarcoma
  • biphasic sarcoma of synovium
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CLD10_HUMAN
  • HELIX syndrome (HELIX) [MIM:617671]: An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. {ECO:0000269 PubMed:28686597, ECO:0000269 PubMed:28771254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CLDN10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CLDN10: view

No data available for Genatlas for CLDN10 Gene

Publications for CLDN10 Gene

  1. Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function. (PMID: 19383724) Günzel D … Müller D (Journal of cell science 2009) 3 4 22 58
  2. Inhibition of hepatocellular carcinoma invasion by suppression of claudin-10 in HLE cells. (PMID: 18025272) Ip YC … Fan ST (Molecular cancer therapeutics 2007) 2 3 22 58
  3. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. (PMID: 28771254) Hadj-Rabia S … El-Shanti H (Genetics in medicine : official journal of the American College of Medical Genetics 2018) 3 4 58
  4. Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. (PMID: 28686597) Klar J … Dahl N (PLoS genetics 2017) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for CLDN10 Gene

Sources for CLDN10 Gene

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