CLDN6

Summary

CLDN6 (claudin 6, HGNC:2048) is a protein-coding gene on chromosome 16p13.3, encoding Claudin-6 (P56747). Plays a major role in tight junction-specific obliteration of the intercellular space. It is a selective cancer dependency (DepMap: 10.0% of cell lines).

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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.

Source: NCBI Gene 9074 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 45 total
• Cancer dependency (DepMap): dependent in 10.0% of screened cell lines
• MANE Select transcript: NM_021195

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2048
Approved symbol	CLDN6
Name	claudin 6
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184697
Ensembl biotype	protein_coding
OMIM	615798
Entrez	9074

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000328796, ENST00000396925, ENST00000572154, ENST00000939715, ENST00000939716, ENST00000939717, ENST00000939718, ENST00000939719

RefSeq mRNA: 1 — MANE Select: NM_021195 NM_021195

CCDS: CCDS10488

Canonical transcript exons

ENST00000328796 — 2 exons

Exon	Start	End
ENSE00001297087	3014712	3016042
ENSE00001432497	3018149	3018183

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 83.86.

FANTOM5 (CAGE): breadth broad, TPM avg 29.6392 / max 2127.8243, expressed in 380 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155977	29.2504	259
155979	0.3888	132

Top tissues by expression

235 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.86	gold quality
buccal mucosa cell	CL:0002336	71.49	silver quality
cortical plate	UBERON:0005343	70.43	gold quality
islet of Langerhans	UBERON:0000006	68.24	gold quality
epithelial cell of pancreas	CL:0000083	67.03	gold quality
kidney epithelium	UBERON:0004819	66.70	gold quality
upper arm skin	UBERON:0004263	65.53	gold quality
epithelium of nasopharynx	UBERON:0001951	62.82	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	62.58	gold quality
vena cava	UBERON:0004087	61.58	gold quality
saphenous vein	UBERON:0007318	60.45	gold quality
nasal cavity epithelium	UBERON:0005384	59.84	gold quality
inferior vagus X ganglion	UBERON:0005363	59.34	gold quality
gingival epithelium	UBERON:0001949	59.00	gold quality
layer of synovial tissue	UBERON:0007616	58.56	gold quality
dorsal plus ventral thalamus	UBERON:0001897	58.38	gold quality
subthalamic nucleus	UBERON:0001906	58.32	gold quality
pericardium	UBERON:0002407	58.00	gold quality
trigeminal ganglion	UBERON:0001675	57.97	gold quality
ventral tegmental area	UBERON:0002691	57.96	gold quality
putamen	UBERON:0001874	57.93	gold quality
medulla oblongata	UBERON:0001896	57.90	gold quality
dorsal root ganglion	UBERON:0000044	57.85	gold quality
substantia nigra pars reticulata	UBERON:0001966	57.70	gold quality
nipple	UBERON:0002030	57.47	gold quality
superior surface of tongue	UBERON:0007371	57.47	gold quality
pylorus	UBERON:0001166	57.43	gold quality
pons	UBERON:0000988	57.35	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	57.34	gold quality
synovial joint	UBERON:0002217	57.31	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	1088.16
E-MTAB-9388	yes	832.43
E-MTAB-6701	yes	741.03
E-MTAB-10485	yes	579.28
E-MTAB-10662	yes	392.76
E-MTAB-8221	yes	390.74
E-GEOD-124472	yes	375.55
E-MTAB-8205	yes	316.74
E-MTAB-8271	yes	121.52
E-HCAD-10	yes	26.08
E-ANND-3	no	1.83

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A

miRNA regulators (miRDB)

19 targeting CLDN6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-8057	97.64	66.54	897
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-1910-5P	97.42	66.36	844
HSA-MIR-4264	96.35	64.76	1480
HSA-MIR-3943	95.87	64.57	523

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• CLDN6, clustered with CLDN9 at human chromosome 16p13.3, is a four-transmembrane protein with WWCC motif, defined by W-X(17-22)-W-X(2)-C-X(8-10)-C. (PMID:12736707)
• CLDN6 and CLDN9, but not CLDN1, are expressed in peripheral blood mononuclear cells, an additional site of HCV replication. (PMID:17804490)
• claudin-6 and claudin-9 expressed in CD81+ cells also enable the entry of HCV pseudoparticles derived from six of the major genotypes. (PMID:18234789)
• CLDN6 may be a useful positive marker to help further identify atypical teratoid/rhabdoid tumors for diagnostic and treatment purposes (PMID:19220299)
• Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma. (PMID:19288010)
• Claudins 6, 7, and 9 expressions are closely related to gastric carcinogenesis (PMID:19960275)
• Claudin 6 was not found in epithelioid glioblastomas or rhabdoid glioblastomas. (PMID:20118769)
• claudin-6, downregulates the malignant phenotype of breast carcinoma. (PMID:20215972)
• The up-regulation of claudin-6 expression in MCF-7 breast cancer cells suppresses their malignant phenotypes with a correlation with the restoration of tight junction integrity. (PMID:20367941)
• 17beta-E2 might regulate the expression of claudin-6 and inhibit the proliferation and migration of MCF-7 cells. (PMID:20388399)
• Increased expression of claudin-6, claudin-7, or claudin-9 is sufficient to enhance tumorigenic properties of a gastric adenocarcinoma cell line. (PMID:20874001)
• CLDN6 is not a specific biomarker for atypical teratoid rhabdoid tumors as it is expressed in a variety of other pediatric CNS and soft tissue tumors. (PMID:21989342)
• Our results show that claudin-6 protein is significantly down-regulated in breast invasive ductal carcinomas (PMID:22455563)
• ASK1 signal may play a positive role in the inhibitory effect of claudin-6 in breast cancer. (PMID:22925655)
• Only some hepatitis C virus strains efficiently use CLDN6 for infection. (PMID:23775920)
• This work provides a proof of concept for the use of Claudin-6 to eliminate residual undifferentiated human pluripotent stem cells from culture. (PMID:23778593)
• Although claudin-6 and claudin-9 can serve as entry factors in cell lines, hepatitis C virus infection into human hepatocytes is not dependent on claudin-6 and claudin-9. (PMID:23864633)
• The expression of claudin-6 was down regulated in gastric cancer tissue. (PMID:23919729)
• High levels of CLDN6 are associated with non-small-cell lung cancer. (PMID:24710653)
• The expression of ASK1 is correlated with the level of claudin-6 in cervical carcinoma cells and tissues. (PMID:26191261)
• Data show that claudin-6 (CLDN6) R209Q and occludin (OCLN) P24A mutations do not affect HCV pseudoparticles (HCVpp) entry. (PMID:26561856)
• Results show that DNA methylation down-regulates CLDN6 expression through MeCP2 binding to the CLDN6 promoter, deacetylating H3 and H4, and altering chromatin structure, consequently promoting migratory and invasive phenotype in breast cancer cells. (PMID:27461117)
• suggest that claudin-6 induces MMP-2 activation through claudin-1 membrane expression (PMID:27914788)
• Cldn6 was decreased in alveolar type II-like epithelial cells (A549) and primary small airway epithelial cells when exposed to cigarette smoke ext (PMID:27982694)
• high expression of CLDN 6 was observed in approx. 65% of the myxofibrosarcomas, whereas the benign soft tissue tumors did not show a high expression of CLDN 6. The expression of CLDN 6 in the myxofibrosarcomas was significantly higher than those of other tumor specimens. Among the myxofibrosarcomas, the high expression of CLDN 6 was correlated with high FNCLCC grades and high AJCC stages. (PMID:28476380)
• In conclusion, this information from bioinformatics analysis will help future attempts to better understand CLDN6 regulation and functions. (PMID:28656265)
• we demonstrated that the downregulation of CLDN6 is regulated through promoter methylation by DNMT1, which depends on the SMAD2 pathway, and that CLDN6 is a key regulator in the SMAD2/DNMT1/CLDN6 pathway to inhibit EMT, migration and invasion of breast cancer cells (PMID:28867761)
• these results suggest that Helicobacter pylori lipopolysaccharide induces TLR2 expression in the gastric adenocarcinoma cells, and that the longer the exposure to lipopolysaccharide, the greater the expression of TLR2 in the cell membrane; consequently the expression of claudin-4, -6, -7 and -9 also increases (PMID:29031421)
• Study provides evidence that high expression of CLDN6 confers chemoresistance on breast cancer which is mediated by GSTP1, the activity of which is regulated by p53. (PMID:29116019)
• Antibodies recognizing native CLDN6 as displayed on cell surfaces and mediating complement-dependent cytotoxicity were elicited in vaccinated animals. The data suggest applications of CLDN6 displaying Virus-like particles in cancer immunotherapy. (PMID:29131519)
• CLDN6 enhances the chemoresistance to ADM via activating the AF-6/ERK signaling pathway and up-regulating cancer stem cell characters in MDAMB231 cells. (PMID:29159771)
• this is the first study to demonstrate that the inhibitory effect of ERbeta on the migration and invasion of breast cancer cells was mediated by CLDN6, which induced the beclin1-dependent autophagic cascade. (PMID:31412908)
• Claudin-6 is a single prognostic marker and functions as a tumor-promoting gene in a subgroup of intestinal type gastric cancer. (PMID:31654186)
• CLDN6 promotes tumor progression through the YAP1-snail1 axis in gastric cancer. (PMID:31827075)
• Downregulation of CLDN6 inhibits cell proliferation, migration, and invasion via regulating EGFR/AKT/mTOR signalling pathway in hepatocellular carcinoma. (PMID:32056244)
• A SUMOylation-dependent HIF-1alpha/CLDN6 negative feedback mitigates hypoxia-induced breast cancer metastasis. (PMID:32093760)
• Claudin-6 is down-regulated in gastric cancer and its potential pathway. (PMID:32390606)
• Aberrant Claudin-6-Adhesion Signaling Promotes Endometrial Cancer Progression via Estrogen Receptor alpha. (PMID:33727343)
• Effects of the Tight Junction Protein CLDN6 on Cell Migration and Invasion in High-Grade Meningioma. (PMID:33862296)
• Claudin 6: Therapeutic prospects for tumours, and mechanisms of expression and regulation (Review). (PMID:34296304)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cldn6	ENSMUSG00000023906
rattus_norvegicus	Cldn6	ENSRNOG00000077752

Paralogs (22): CLDN11 (ENSG00000013297), CLDN18 (ENSG00000066405), CLDN15 (ENSG00000106404), CLDN16 (ENSG00000113946), CLDN10 (ENSG00000134873), CLDN17 (ENSG00000156282), CLDN8 (ENSG00000156284), CLDN14 (ENSG00000159261), CLDN1 (ENSG00000163347), CLDN19 (ENSG00000164007), CLDN3 (ENSG00000165215), CLDN2 (ENSG00000165376), CLDN20 (ENSG00000171217), CLDN22 (ENSG00000177300), CLDN7 (ENSG00000181885), CLDN5 (ENSG00000184113), CLDN24 (ENSG00000185758), CLDN4 (ENSG00000189143), CLDN9 (ENSG00000213937), CLDN25 (ENSG00000228607), CLDN34 (ENSG00000234469), CLDN23 (ENSG00000253958)

Protein

Protein identifiers

Claudin-6 — P56747 (reviewed: P56747)

Alternative names: Skullin

All UniProt accessions (2): P56747, I3L1E7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a major role in tight junction-specific obliteration of the intercellular space. (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells.

Subunit / interactions. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with CLDN1, CD81 and OCLN.

Subcellular location. Cell junction. Tight junction. Cell membrane.

Tissue specificity. Expressed in the liver, in peripheral blood mononuclear cells and hepatocarcinoma cell lines.

Similarity. Belongs to the claudin family.

RefSeq proteins (1): NP_067018* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003925	Claudin6	Family
IPR004031	PMP22/EMP/MP20/Claudin	Family
IPR006187	Claudin	Family
IPR017974	Claudin_CS	Conserved_site

Pfam: PF00822

UniProt features (16 total): topological domain 5, modified residue 4, transmembrane region 4, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56747-F1	80.36	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 201, 203, 208, 212

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-420029	Tight junction interactions

MSigDB gene sets: 127 (showing top): ATF_B, PEREZ_TP63_TARGETS, GOBP_APICAL_JUNCTION_ASSEMBLY, KEGG_TIGHT_JUNCTION, CREBP1_Q2, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_HOST, GOBP_VIRAL_LIFE_CYCLE, JIANG_TIP30_TARGETS_DN, ATF3_Q6, CREB_Q2_01, GOCC_APICOLATERAL_PLASMA_MEMBRANE, YAMASHITA_METHYLATED_IN_PROSTATE_CANCER, GOBP_CELL_JUNCTION_ASSEMBLY

GO Biological Process (5): cell adhesion (GO:0007155), calcium-independent cell-cell adhesion (GO:0016338), bicellular tight junction assembly (GO:0070830), cell-cell junction organization (GO:0045216), symbiont entry into host cell (GO:0046718)

GO Molecular Function (4): virus receptor activity (GO:0001618), structural molecule activity (GO:0005198), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), apicolateral plasma membrane (GO:0016327), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cell-cell junction organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
cell-cell adhesion	1
apical junction assembly	1
tight junction assembly	1
cell junction organization	1
viral life cycle	1
symbiont entry into host	1
symbiont entry into host cell	1
exogenous protein binding	1
molecular_function	1
protein binding	1
binding	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
plasma membrane region	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

919 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLDN6	OCLN	Q16625	743
CLDN6	TJP1	Q07157	726
CLDN6	TJP2	Q9UDY2	713
CLDN6	CLDN12	P56749	650
CLDN6	CLDN9	O95484	648
CLDN6	CD81	P18582	601
CLDN6	LATS1	O95835	488
CLDN6	TJP3	O95049	468
CLDN6	CLDN14	O95500	467
CLDN6	MARVELD2	Q8N4S9	432
CLDN6	F11R	Q9Y624	410
CLDN6	LIN28A	Q9H9Z2	408
CLDN6	CLDN1	O95832	407
CLDN6	DPPA5	A6NC42	379
CLDN6	BPIFB2	Q8N4F0	374

IntAct

24 interactions, top by confidence:

A	B	Type	Score
SLC30A8	CLDN6	psi-mi:“MI:0915”(physical association)	0.560
CLDN6	PMP22	psi-mi:“MI:0915”(physical association)	0.560
CLDN6	SLC30A8	psi-mi:“MI:0915”(physical association)	0.560
CLDN6	MS4A3	psi-mi:“MI:0915”(physical association)	0.560
MUC1	CLDN6	psi-mi:“MI:0915”(physical association)	0.560
CLDN6	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
IGFBP5	CLDN6	psi-mi:“MI:0915”(physical association)	0.560
CLDN6	MAPK8	psi-mi:“MI:0915”(physical association)	0.490
MAPK8	CLDN6	psi-mi:“MI:0915”(physical association)	0.490
PMP22	CLDN6	psi-mi:“MI:0915”(physical association)	0.000
CLDN6	MS4A3	psi-mi:“MI:0915”(physical association)	0.000
CLDN6	MUC1	psi-mi:“MI:0915”(physical association)	0.000
CLDN6	TMEM179B	psi-mi:“MI:0915”(physical association)	0.000
IGFBP5	CLDN6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): CLDN6 (Two-hybrid), CLDN6 (Two-hybrid), CLDN6 (Two-hybrid), TMEM179B (Two-hybrid), MUC1 (Two-hybrid), TJP1 (Reconstituted Complex), PTEN (Affinity Capture-Western), TJP1 (Affinity Capture-Western), CLDN6 (Affinity Capture-Western), CLDN6 (Affinity Capture-Western), CLDN6 (Proximity Label-MS)

ESM2 similar proteins: A0A8C0N7E5, C3VMW3, D3ZQJ0, O00501, O14493, O15551, O19005, O35054, O35912, O54942, O88551, O95471, O95484, O95832, P56745, P56746, P56747, P56748, P56750, P78369, Q2HJ22, Q2KIY2, Q3B7N4, Q5E9L0, Q5QT56, Q5R8E5, Q63400, Q6BBL6, Q6DHB5, Q6DHP1, Q6L708, Q765N9, Q8BXA6, Q8N6F1, Q95KM5, Q9D1D1, Q9ET38, Q9JKD6, Q9QYW5, Q9YH90

Diamond homologs: A0A8C0N7E5, A6NM45, C3VMW3, C9JDP6, D3ZQJ0, O00501, O14493, O15551, O19005, O35054, O54942, O75508, O88551, O88552, O95471, O95484, O95500, O95832, P56745, P56746, P56747, P56748, P56750, P56856, P56857, P56880, P57739, P78369, Q0VCN0, Q2HJ22, Q2KIY2, Q3B7N4, Q3MHK4, Q4R3L1, Q5E9L0, Q5I0E5, Q5QT56, Q5R8E5, Q60771, Q63400

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

489 predictions. Top by Δscore:

Variant	Effect	Δscore
16:3016038:CTGCA:C	acceptor_gain	0.9900
16:3016039:TGCA:T	acceptor_gain	0.9900
16:3016041:CA:C	acceptor_gain	0.9900
16:3016041:CACTG:C	acceptor_gain	0.9900
16:3016043:C:CC	acceptor_gain	0.9900
16:3016045:G:C	acceptor_gain	0.9900
16:3016045:G:GC	acceptor_gain	0.9900
16:3016049:T:C	acceptor_gain	0.9800
16:3016049:T:TC	acceptor_gain	0.9800
16:3016040:GCA:G	acceptor_gain	0.9700
16:3016047:G:C	acceptor_gain	0.9700
16:3016047:G:GC	acceptor_gain	0.9700
16:3016048:T:C	acceptor_gain	0.9700
16:3016048:T:TC	acceptor_gain	0.9700
16:3018483:CT:C	acceptor_gain	0.9700
16:3018480:CTACT:C	acceptor_gain	0.9600
16:3018144:CTCA:C	donor_loss	0.9500
16:3018145:TCAC:T	donor_loss	0.9500
16:3018146:CAC:C	donor_loss	0.9500
16:3018147:A:C	donor_loss	0.9500
16:3018148:C:T	donor_loss	0.9500
16:3018485:C:CC	acceptor_gain	0.9500
16:3019801:CT:C	donor_gain	0.9400
16:3019967:C:CT	donor_gain	0.9300
16:3019890:T:TA	donor_gain	0.9200
16:3018143:ACTC:A	donor_loss	0.9100
16:3019800:A:AC	donor_gain	0.9000
16:3019801:C:CC	donor_gain	0.9000
16:3016055:C:CT	acceptor_gain	0.8900
16:3018211:T:TG	acceptor_gain	0.8800

AlphaMissense

1377 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:3015581:G:C	F147L	0.998
16:3015581:G:T	F147L	0.998
16:3015583:A:G	F147L	0.998
16:3015877:C:G	G49R	0.997
16:3015917:G:C	F35L	0.996
16:3015917:G:T	F35L	0.996
16:3015919:A:G	F35L	0.996
16:3015932:C:A	W30C	0.996
16:3015932:C:G	W30C	0.996
16:3015520:A:G	W168R	0.995
16:3015520:A:T	W168R	0.995
16:3015869:C:A	W51C	0.995
16:3015869:C:G	W51C	0.995
16:3015871:A:G	W51R	0.995
16:3015871:A:T	W51R	0.995
16:3015540:C:T	G161E	0.994
16:3015551:C:A	K157N	0.994
16:3015551:C:G	K157N	0.994
16:3015831:C:G	C64S	0.994
16:3015832:A:T	C64S	0.994
16:3015861:C:T	C54Y	0.994
16:3015877:C:A	G49C	0.994
16:3015934:A:G	W30R	0.994
16:3015934:A:T	W30R	0.994
16:3015541:C:G	G161R	0.993
16:3015541:C:T	G161R	0.993
16:3015541:C:A	G161W	0.992
16:3015613:A:G	C137R	0.991
16:3015832:A:G	C64R	0.991
16:3015862:A:G	C54R	0.991

dbSNP variants (sampled 300 via entrez): RS1000512408 (16:3019365 CTTTT>C,CTTT,CTTTTT), RS1000881626 (16:3018111 A>T), RS1001172979 (16:3019173 G>A), RS1001562802 (16:3017900 G>T), RS1001614680 (16:3017151 C>A,G,T), RS1001933083 (16:3018881 GGTT>G), RS1001950218 (16:3018142 G>A), RS1002111012 (16:3014343 A>C), RS1002663492 (16:3019389 G>A,C), RS1003350431 (16:3018148 C>A), RS1004752764 (16:3017833 C>T), RS1005340736 (16:3018665 C>G,T), RS1005591189 (16:3019600 A>G), RS1005622187 (16:3019861 C>G,T), RS1006473058 (16:3016800 A>G)

Disease associations

OMIM: gene MIM:615798 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment	6
trichostatin A	affects cotreatment, increases expression, decreases methylation	4
Tobacco Smoke Pollution	increases expression	3
methylmercuric chloride	affects cotreatment, increases expression	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tetrachlorodibenzodioxin	increases expression	2
Triclosan	increases methylation, decreases expression	2
aristolochic acid I	increases expression	1
terbufos	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Azacitidine	decreases methylation, increases expression, affects cotreatment	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression, affects cotreatment	1
Diazinon	increases methylation	1
Diethylhexyl Phthalate	increases expression	1
Dimethyl Sulfoxide	decreases expression, decreases reaction, decreases methylation, increases expression	1
Dimethylnitrosamine	decreases reaction, increases expression	1

Cellosaurus cell lines

4 cell lines: 2 transformed cell line, 1 cancer cell line, 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C3VC	HT-1080/hCLDN-6	Cancer cell line	Male
CVCL_D3PQ	CHO/CLDN6	Transformed cell line	Female
CVCL_E6PZ	Genomeditech CHO-K1 H_CLDN6	Spontaneously immortalized cell line	Female
CVCL_E6TQ	Genomeditech HEK-293 H_CLDN6	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.