CLDN8 (claudin 8)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9073
Gene name Claudin 8
Gene symbol CLDN8
Synonyms (NCBI Gene)
HEL-S-79
Chromosome 21
Chromosome location 21q22.11
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 paracellula
miRNA miRNA information provided by mirtarbase database.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
miRTarBase ID miRNA Experiments Reference
MIRT895568 hsa-miR-3119 CLIP-seq
MIRT895569 hsa-miR-3920 CLIP-seq
MIRT895570 hsa-miR-4728-3p CLIP-seq
MIRT895571 hsa-miR-561 CLIP-seq
MIRT2201489 hsa-miR-1273e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005783 Component Endoplasmic reticulum HDA 16780588
GO:0005886 Component Plasma membrane HDA 16780588
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611231 2050 ENSG00000156284
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56748
Protein name Claudin-8
Protein function Can associate with other claudins to regulate tight junction structural and functional strand dynamics (By similarity). May coassemble with CLDN4 into tight junction strands containing anion-selective channels that convey paracellular chloride p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 → 182 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the epididymis, mainly in the caput segment. {ECO:0000269|PubMed:17287494}.
Sequence
Sequence length 225
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (42)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32639640 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA Gordon syndrome BEFREE 27490784
★★★★★
★☆☆☆☆
Found in Text Mining only
Bartter Syndrome Bartter syndrome Pubtator 19538297 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 18854598 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15750830, 40508219 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33714203 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 27029486
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31118793
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 17047970
★★★★★
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 17145811, 21204715
★★★★★
★☆☆☆☆
Found in Text Mining only