CLDN14 (claudin 14)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23562
Gene name Gene Name - the full gene name approved by the HGNC.
Claudin 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLDN14
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB29
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.13
Summary Summary of gene provided in NCBI Entrez Gene.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT017930 hsa-miR-335-5p Microarray 18185580
MIRT895128 hsa-miR-1290 CLIP-seq
MIRT895129 hsa-miR-622 CLIP-seq
MIRT895130 hsa-miR-9 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605608 2035 ENSG00000159261
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95500
Protein name Claudin-14
Protein function Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 → 181 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Liver, kidney. Also found in ear.
Sequence
Sequence length 239
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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 29 rs371100799, rs786204841, rs143797113, rs1568839335, rs786200885, rs74315437, rs368027306 N/A
hearing impairment Hearing impairment rs74315437, rs368027306 N/A
Hearing Loss Hearing loss, autosomal recessive rs74315437 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Urolithiasis Urolithiasis N/A N/A GWAS
Vein Of Galen Aneurysm Vein of Galen aneurysmal malformation N/A N/A ClinVar
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Stimulate 33714203
Carcinoma Non Small Cell Lung Associate 30980423, 36098705
Deafness Associate 20811388, 23235333, 27573290, 29434063
Deafness Stimulate 31527509
Deafness Autosomal Recessive Associate 11163249
Diabetes Mellitus Type 2 Associate 32747424
Drug Related Side Effects and Adverse Reactions Associate 23322640
Dystonic Disorders Associate 22246673
Gastrointestinal Diseases Associate 23322640
Hearing Loss Associate 20811388, 22246673, 23235333, 23590985, 27573290, 27870113, 29434063, 31527509