Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9071
Gene name Gene Name - the full gene name approved by the HGNC.
Claudin 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLDN10
Synonyms (NCBI Gene) Gene synonyms aliases
CPETRL3, HELIX, OSP-L, OSPL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HELIX
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q32.1
Summary Summary of gene provided in NCBI Entrez 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 paracellula
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs759408749 C>A,G Pathogenic Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, upstream transcript variant
rs930701747 T>C,G Pathogenic Upstream transcript variant, intron variant, missense variant, initiator codon variant, genic upstream transcript variant
rs1555299783 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT722037 hsa-miR-3925-5p HITS-CLIP 19536157
MIRT722036 hsa-miR-3919 HITS-CLIP 19536157
MIRT722035 hsa-miR-4756-3p HITS-CLIP 19536157
MIRT722034 hsa-miR-6729-3p HITS-CLIP 19536157
MIRT722033 hsa-miR-6801-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 28771254
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617579 2033 ENSG00000134873
Protein
UniProt ID P78369
Protein name Claudin-10 (Oligodendrocyte-specific protein-like) (OSP-like)
Protein function Forms paracellular channels: polymerizes in tight junction strands with cation- and anion-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability. {ECO:0000269|PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 179 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity 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 Henle's loop (TAL) (PubMed:28686597, PubMed:28771254). In the sweat glands, it is expressed
Sequence
Sequence length 228
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Helix syndrome HELIX SYNDROME rs759408749, rs1555299783, rs930701747 28771254, 19307729, 28686597
Renal insufficiency Renal Insufficiency rs1596536873
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Gout Gout GWAS
Urolithiasis Urolithiasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acid Base Imbalance Associate 33675844
Adenocarcinoma Associate 23591077
Adenocarcinoma in Situ Associate 23591077
Adenocarcinoma of Lung Associate 22076167, 23591077, 32149133
Alacrima Associate 30482581
Aplasia of Lacrimal and Salivary Glands Associate 33675844
Autism Spectrum Disorder Associate 27957319
Bartter Syndrome Associate 28674042
Bartter Syndrome Type 3 with Hypocalciuria Associate 30482581
Bile Duct Neoplasms Associate 18854598