CLDN14 (claudin 14)

Gene

• 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

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)

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
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007155	Process	Cell adhesion	IBA
GO:0016020	Component	Membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0042802	Function	Identical protein binding	ISS
GO:0065003	Process	Protein-containing complex assembly	TAS	7644498
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA

Other IDs

• MIM: 605608
• HGNC: 2035
• e!Ensembl: ENSG00000159261

Protein

• 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:

  MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTG
  IYQCQIYRSLLALPQDLQAARALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAIL
  GGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEIGQALYLGFISSSLSLIGGTL
  LCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV

• Sequence length: 239

Pathways

KEGG:

Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive nonsyndromic hearing loss 29	Likely pathogenic; Pathogenic	rs1273842424, rs368027306, rs371100799, rs786204841, rs786200885, rs74315437, rs1568839335	RCV006249749 RCV000169747 RCV000169748 RCV000169749 RCV000005123 RCV000005124 RCV000735776	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLDN14-related disorder	Likely pathogenic; Pathogenic	rs368027306, rs371100799	RCV003422062 RCV003390886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1273842424, rs368027306, rs74315437	RCV001375278 RCV001375151 RCV000417186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Pathogenic	rs74315437	RCV001291511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs2146412304	RCV001353201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Alport syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 29	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEIN OF GALEN ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vein of Galen aneurysmal malformation	Uncertain significance; association; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33714203	Stimulate	★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	11163249		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	20811388, 23235333, 27573290, 29434063	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	31527509	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness Autosomal Recessive	Deafness	Pubtator	11163249	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	11163249		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	11163249		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 29	Deafness	UNIPROT_DG	11163249, 22246673, 23235333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 29	Deafness	GENOMICS_ENGLAND_DG	22246673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 29	Deafness	CLINVAR_DG	26969326, 27838790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 29	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32747424	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	22246673	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23322640	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	27629923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	20811388, 22246673, 23235333, 23590985, 27573290, 27870113, 29434063, 31527509	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	23235333, 27838790	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	27191348		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28373577		★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	28229505		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17241765		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	17241765	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	19561606, 20728256, 20962745, 24948743, 26107257, 27191348, 27878608, 27915449, 28229505, 29782346		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	CTD_human_DG	19561606		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	GWASCAT_DG	19561606, 26272126		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	GWASDB_DG	19561606		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27207647		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	26842849	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30980423	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17241765		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27207647		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	19561606, 20728256, 20962745, 24948743, 26107257, 27191348, 27878608, 27915449, 28229505, 29782346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11163249, 12913076, 15880785, 20811388, 22246673, 23235333, 27838790, 27870113, 28811056		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	11163249		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	26842849		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24325792	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	27539983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	GWASCAT_DG	30975718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations