CLDN9 (claudin 9)

Gene

• Entrez ID: 9080
• Gene name: Claudin 9
• Gene symbol: CLDN9
• Synonyms (NCBI Gene): DFNB116
• Chromosome: 16
• Chromosome location: 16p13.3
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT045011	hsa-miR-186-5p	CLASH	23622248
MIRT1965519	hsa-miR-1252	CLIP-seq
MIRT1965520	hsa-miR-1343	CLIP-seq
MIRT1965521	hsa-miR-199a-5p	CLIP-seq
MIRT1965522	hsa-miR-199b-5p	CLIP-seq
MIRT1965523	hsa-miR-3194-5p	CLIP-seq
MIRT1965524	hsa-miR-4275	CLIP-seq
MIRT1965525	hsa-miR-4316	CLIP-seq
MIRT738249	hsa-miR-4437	CLIP-seq
MIRT1965526	hsa-miR-4476	CLIP-seq
MIRT1965527	hsa-miR-4493	CLIP-seq
MIRT1965528	hsa-miR-4674	CLIP-seq
MIRT1965529	hsa-miR-4676-5p	CLIP-seq
MIRT1965530	hsa-miR-4710	CLIP-seq
MIRT1965531	hsa-miR-4753-5p	CLIP-seq
MIRT1965532	hsa-miR-575	CLIP-seq
MIRT1965523	hsa-miR-3194-5p	CLIP-seq
MIRT1965529	hsa-miR-4676-5p	CLIP-seq
MIRT1965532	hsa-miR-575	CLIP-seq
MIRT2386154	hsa-miR-1184	CLIP-seq
MIRT2386155	hsa-miR-1587	CLIP-seq
MIRT2386156	hsa-miR-3173-5p	CLIP-seq
MIRT2386157	hsa-miR-3934	CLIP-seq
MIRT2386158	hsa-miR-4453	CLIP-seq
MIRT2386159	hsa-miR-4538	CLIP-seq
MIRT1965528	hsa-miR-4674	CLIP-seq
MIRT2386160	hsa-miR-635	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001618	Function	Virus receptor activity	IMP	20375010
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	20375010, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20375010
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	31175426
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:0030054	Component	Cell junction	IDA
GO:0042802	Function	Identical protein binding	ISS
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0120193	Process	Tight junction organization	IEA

Other IDs

• MIM: 615799
• HGNC: 2051
• e!Ensembl: ENSG00000213937

Protein

• UniProt ID: O95484
• Protein name: Claudin-9
• Protein function: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. ; (Microbial infection) Acts as a receptor for hepatitis C virus
• PDB: 6OV2, 6OV3
• 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: Expressed in the liver, in peripheral blood mononuclear cells and hepatocarcinoma cell lines. {ECO:0000269|PubMed:17804490}.
• Sequence:

  MASTGLELLGMTLAVLGWLGTLVSCALPLWKVTAFIGNSIVVAQVVWEGLWMSCVVQSTG
  QMQCKVYDSLLALPQDLQAARALCVIALLLALLGLLVAITGAQCTTCVEDEGAKARIVLT
  AGVILLLAGILVLIPVCWTAHAIIQDFYNPLVAEALKRELGASLYLGWAAAALLMLGGGL
  LCCTCPPPQVERPRGPRLGYSIPSRSGASGLDKRDYV

• Sequence length: 217

Pathways

KEGG:

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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hearing loss	Likely pathogenic; Pathogenic	rs773682747	RCV001255162
Hearing loss, autosomal recessive 116	Likely pathogenic; Pathogenic	rs34769999, rs773682747, rs2072541692	RCV004585111 RCV001751522 RCV001265114

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CLDN9-related disorder	Uncertain significance; Likely benign	rs199855287, rs200866651, rs760288322	RCV003906683 RCV003906757 RCV003904478
Hearing impairment	Uncertain significance	rs571860251	RCV001375122
Nonsyndromic genetic hearing loss	Uncertain significance	rs1388025205	RCV001093595
Pendred syndrome	Conflicting classifications of pathogenicity	rs1567404609	RCV001375106

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	33234735
Breast Neoplasms	Stimulate	33714203
Carcinoma Hepatocellular	Stimulate	31418417
Colorectal Neoplasms	Associate	37719361
Endometrial Neoplasms	Stimulate	36129146
Hearing Loss Sensorineural	Associate	31175426
Infections	Associate	25820616
Lymphatic Metastasis	Associate	26464708
Neoplasm Invasiveness	Associate	31565884
Neoplasms	Associate	36129146
Nonsyndromic Deafness	Associate	31175426
Personality Disorders	Associate	31418417
Pituitary Neoplasms	Associate	31565884
Uterine Cervical Neoplasms	Associate	26464708