Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (27)

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

Show/Hide all (21)

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

MIM	HGNC	e!Ensembl
615799	2051	ENSG00000213937

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

Interactions

View interactions

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

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss	Likely pathogenic; Pathogenic	rs773682747	RCV001255162	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive 116	Likely pathogenic; Pathogenic	rs34769999, rs773682747, rs2072541692	RCV004585111 RCV001751522 RCV001265114	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CLDN9-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 116	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonsyndromic genetic hearing loss	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pendred syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENDREDS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	33714203	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31418417	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37719361	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36129146	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	31175426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31418417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26464708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	31175426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	31565884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31175426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26464708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CLDN9 (claudin 9)