CLDN14 (claudin 14)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23562
Gene name Claudin 14
Gene symbol CLDN14
Synonyms (NCBI Gene)
DFNB29
Chromosome 21
Chromosome location 21q22.13
Summary 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.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605608 2035 ENSG00000159261
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.
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 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
95
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 29 Likely pathogenic; Pathogenic rs1273842424, rs368027306, rs371100799, rs786204841, rs786200885, rs74315437, rs1568839335 RCV006249749
RCV000169747
RCV000169748
RCV000169749
RCV000005123
RCV000005124
RCV000735776
CLDN14-related disorder Likely pathogenic; Pathogenic rs368027306, rs371100799 RCV003422062
RCV003390886
Hearing impairment Likely pathogenic; Pathogenic rs1273842424, rs368027306, rs74315437 RCV001375278
RCV001375151
RCV000417186
Hearing loss, autosomal recessive Pathogenic rs74315437 RCV001291511
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alport syndrome Uncertain significance rs1270823192 RCV001375234
Monogenic hearing loss Conflicting classifications of pathogenicity rs143797113 RCV005645044
Vein of Galen aneurysmal malformation Uncertain significance; association; Conflicting classifications of pathogenicity rs776564488, rs138631461, rs148223897, rs752639706 RCV001849633
RCV001849634
RCV003458356
RCV003458966
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease 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