Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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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

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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 Pathway
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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (7)
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	17013881	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
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)

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