CLDN8

Summary

CLDN8 (claudin 8, HGNC:2050) is a protein-coding gene on chromosome 21q22.11, encoding Claudin-8 (P56748). Can associate with other claudins to regulate tight junction structural and functional strand dynamics.

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 paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.

Source: NCBI Gene 9073 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_199328

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2050
Approved symbol	CLDN8
Name	claudin 8
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000156284
Ensembl biotype	protein_coding
OMIM	611231
Entrez	9073

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000399899

RefSeq mRNA: 1 — MANE Select: NM_199328 NM_199328

CCDS: CCDS13587

Canonical transcript exons

ENST00000399899 — 1 exons

Exon	Start	End
ENSE00001540688	30214006	30216097

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 97.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3842 / max 181.0446, expressed in 51 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190110	0.1435	32
190112	0.1165	34
190113	0.1047	32
190109	0.0101	4
190111	0.0094	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	97.11	gold quality
nephron tubule	UBERON:0001231	95.82	gold quality
parotid gland	UBERON:0001831	95.75	gold quality
colonic mucosa	UBERON:0000317	94.99	gold quality
rectum	UBERON:0001052	94.97	gold quality
renal medulla	UBERON:0000362	94.62	gold quality
bronchial epithelial cell	CL:0002328	93.06	gold quality
adult mammalian kidney	UBERON:0000082	90.79	gold quality
kidney epithelium	UBERON:0004819	90.33	gold quality
hair follicle	UBERON:0002073	89.93	gold quality
kidney	UBERON:0002113	88.90	gold quality
upper leg skin	UBERON:0004262	88.85	gold quality
epithelium of bronchus	UBERON:0002031	88.18	gold quality
seminal vesicle	UBERON:0000998	88.06	gold quality
epithelium of mammary gland	UBERON:0003244	87.02	gold quality
bronchus	UBERON:0002185	86.66	gold quality
skin of hip	UBERON:0001554	86.19	gold quality
renal glomerulus	UBERON:0000074	86.11	gold quality
mammary duct	UBERON:0001765	86.02	gold quality
saliva-secreting gland	UBERON:0001044	85.81	gold quality
corpus epididymis	UBERON:0004359	84.95	gold quality
metanephric glomerulus	UBERON:0004736	84.95	gold quality
buccal mucosa cell	CL:0002336	84.63	silver quality
metanephros cortex	UBERON:0010533	84.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.27	gold quality
cauda epididymis	UBERON:0004360	84.18	gold quality
minor salivary gland	UBERON:0001830	83.74	gold quality
cortex of kidney	UBERON:0001225	82.72	gold quality
metanephros	UBERON:0000081	82.33	gold quality
mammary gland	UBERON:0001911	81.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

97 targeting CLDN8, 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-1252-5P	100.00	69.80	2774
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590

Literature-anchored findings (GeneRIF, showing 18)

• CLDN8, clustered with CLDN17 at human chromosome 21q22.11, is a four-transmembrane protein with WWCC motif, defined by W-X(17-22)-W-X(2)-C-X(8-10)-C. (PMID:12736707)
• Differential expression of genes encoding claudins in colorectal cancer suggests that these tight junction proteins may be associated to and involved in tumorigenesis. (PMID:17047970)
• claudin-7 and claudin-8 have potential use as immunohistochemical biomarkers in the differential diagnosis of chromophobe renal cell carcinoma and oncocytoma (PMID:18799195)
• Na(+) absorption is paralleled by claudin-8-mediated sealing of the paracellular barrier to prevent Na(+) back-leakage, supporting steep Na(+) gradients in distal colon. (PMID:19000657)
• the combination of CK7, S100A1 and claudin 8 immunohistochemistry can be useful for classifying tumours of overlapping histology as chromophobe renal cell carcinoma or renal oncocytomas. (PMID:19302533)
• Human Cldn-8 and -14 were shown to convey Clostridium perfringens enterotoxin-mediated cytotoxicity at pathophysiologically relevant concentrations of this toxin, although ~2-to-10-fold less efficiently than Cldn-4. (PMID:23322640)
• the expression of claudin-5 and claudin-9 was down-regulated while the expression of claudin-8 was up-regulated in cervical carcinoma tissues compared with adjacent non-neoplastic tissues. (PMID:26464708)
• High Claudin 8 Contributes to Malignant Proliferation in Osteosarcoma. (PMID:26560196)
• Findings suggest a new mechanistic pathway in inflammatory bowel disease in which MiR-223 functions as a proinflammatory molecule targeting CLDN8 in the IL23 pathway. (PMID:27029486)
• Epithelial barrier dysfunction in lymphocytic colitis occurs through downregulation of claudin-4, -5, and -8, and redistribution of claudin-5 and -8 off the tight junction, which contributes to diarrhea by a leak-flux mechanism. (PMID:28138755)
• these results indicate that CLDN8 functions as an androgen receptordownstream signal to facilitate the progression of prostate cancer (PMID:28474805)
• data support that the tight junction protein claudin 8 exon 1 is a predictor for the plasma levels of IP-10 in MMT patients with urine test positive for morphine (PMID:29145422)
• Low CLDN8 expression is associated with Crohn’s disease. (PMID:29788092)
• the present study revealed the distinct expression profiles of claudin5, 7 and 8 in nonneoplastic mucosal tissues and gastric carcinoma tissues. Furthermore, the expression of these claudin proteins was highly associated with metastatic progression and prognosis in patients with gastric carcinoma (PMID:29901188)
• the findings of the present study demonstrated that the expression levels of CLDN1, 3, 7 and 8 varied between laryngeal squamous carcinoma tissues and nonneoplastic tissues (PMID:31115553)
• MiR-361-5p inhibits cell proliferation and induces cell apoptosis in retinoblastoma by negatively regulating CLDN8. (PMID:31161266)
• MMP1 and CLDN8 were two key genes screened from the differentially expressed genes involved in the pathogenesis of Crohn’s disease. (PMID:31526198)
• Campylobacter concisus Impairs Sodium Absorption in Colonic Epithelium via ENaC Dysfunction and Claudin-8 Disruption. (PMID:31936044)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cldn8.3	ENSDARG00000099950
mus_musculus	Cldn8	ENSMUSG00000050520
rattus_norvegicus	Cldn8	ENSRNOG00000080263

Paralogs (22): CLDN11 (ENSG00000013297), CLDN18 (ENSG00000066405), CLDN15 (ENSG00000106404), CLDN16 (ENSG00000113946), CLDN10 (ENSG00000134873), CLDN17 (ENSG00000156282), CLDN14 (ENSG00000159261), CLDN1 (ENSG00000163347), CLDN19 (ENSG00000164007), CLDN3 (ENSG00000165215), CLDN2 (ENSG00000165376), CLDN20 (ENSG00000171217), CLDN22 (ENSG00000177300), CLDN7 (ENSG00000181885), CLDN5 (ENSG00000184113), CLDN6 (ENSG00000184697), CLDN24 (ENSG00000185758), CLDN4 (ENSG00000189143), CLDN9 (ENSG00000213937), CLDN25 (ENSG00000228607), CLDN34 (ENSG00000234469), CLDN23 (ENSG00000253958)

Protein

Protein identifiers

Claudin-8 — P56748 (reviewed: P56748)

All UniProt accessions (2): P56748, A0A0K0K1I9

UniProt curated annotations — full annotation on UniProt →

Function. Can associate with other claudins to regulate tight junction structural and functional strand dynamics. May coassemble with CLDN4 into tight junction strands containing anion-selective channels that convey paracellular chloride permeability in renal collecting ducts. Cannot form tight junction strands on its own.

Subunit / interactions. Can form heteropolymeric strands with other claudins. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with CLDN4; forms coassem. Interacts with KLHL3.

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

Tissue specificity. Expressed in the epididymis, mainly in the caput segment.

Post-translational modifications. Ubiquitinated by the BCR(KLHL3) E3 ubiquitin ligase complex in the kidney, leading to its degradation.

Similarity. Belongs to the claudin family.

RefSeq proteins (1): NP_955360* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00822

Catalyzed reactions (Rhea), 4 shown:

• chloride(in) = chloride(out) (RHEA:29823)
• iodide(out) = iodide(in) (RHEA:66324)
• bromide(in) = bromide(out) (RHEA:75383)
• fluoride(in) = fluoride(out) (RHEA:76159)

UniProt features (16 total): topological domain 5, transmembrane region 4, sequence variant 3, region of interest 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56748-F1	79.71	0.40

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-420029	Tight junction interactions

MSigDB gene sets: 153 (showing top): FREAC2_01, KEGG_TIGHT_JUNCTION, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, FOXD3_01, GOBP_CELL_CELL_ADHESION, CADWELL_ATG16L1_TARGETS_DN, HFH8_01, FOXJ2_01, HFH3_01, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOCC_APICOLATERAL_PLASMA_MEMBRANE, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, HFH1_01, MODULE_88, AACTTT_UNKNOWN

GO Biological Process (3): cell adhesion (GO:0007155), calcium-independent cell-cell adhesion (GO:0016338), bicellular tight junction assembly (GO:0070830)

GO Molecular Function (3): structural molecule activity (GO:0005198), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (7): endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), basolateral plasma membrane (GO:0016323), 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
plasma membrane region	2
cellular process	1
cell-cell adhesion	1
apical junction assembly	1
tight junction assembly	1
molecular_function	1
protein binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
basal plasma membrane	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

831 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLDN8	TJP1	Q07157	967
CLDN8	CLDN12	P56749	929
CLDN8	TJP3	O95049	915
CLDN8	OCLN	Q16625	913
CLDN8	TJP2	Q9UDY2	909
CLDN8	CLDN4	O14493	711
CLDN8	F11R	Q9Y624	654
CLDN8	CGN	Q9P2M7	644
CLDN8	SAFB	Q15424	549
CLDN8	IL22	Q9GZX6	544
CLDN8	PATJ	Q8NI35	509
CLDN8	MARVELD2	Q8N4S9	480
CLDN8	S100A8	P05109	478
CLDN8	PALS1	Q8N3R9	456
CLDN8	CLDN23	Q96B33	452

IntAct

152 interactions, top by confidence:

A	B	Type	Score
SYNE4	CLDN8	psi-mi:“MI:0915”(physical association)	0.560
KASH5	CLDN8	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	SYNE4	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	CLEC17A	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	SMIM3	psi-mi:“MI:0915”(physical association)	0.560
OPRM1	CLDN8	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	ADAM32	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	CLDN8	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	PKMYT1	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	ARL13B	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CLDN8	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	TJP2	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	GORASP1	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	HTRA2	psi-mi:“MI:0407”(direct interaction)	0.440
PATJ	CLDN8	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	FRMPD2	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
CLDN8	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF12	CLDN8	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (15): CCDC155 (Two-hybrid), SYNE4 (Two-hybrid), CLDN8 (Affinity Capture-Western), KLHL3 (Affinity Capture-Western), CLDN8 (Two-hybrid), CLDN8 (Two-hybrid), CLDN8 (Two-hybrid), ARL13B (Two-hybrid), TMEM80 (Two-hybrid), TUSC5 (Two-hybrid), CLEC17A (Two-hybrid), ADAM32 (Two-hybrid), SMIM3 (Two-hybrid), TJP1 (Co-localization), TJP1 (Reconstituted Complex)

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	50.1×	2e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	47.7×	2e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	47.7×	2e-06
Assembly and cell surface presentation of NMDA receptors	10	44.5×	1e-12
Dopamine Neurotransmitter Release Cycle	5	43.5×	3e-06
Long-term potentiation	5	41.7×	3e-06
Neurexins and neuroligins	11	38.0×	7e-13
Protein-protein interactions at synapses	7	32.6×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	69.2×	6e-14
protein localization to synapse	6	54.7×	2e-07
receptor clustering	7	52.0×	1e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	6	35.4×	2e-06
protein-containing complex assembly	9	12.2×	4e-06
cell-cell adhesion	9	10.9×	8e-06
regulation of small GTPase mediated signal transduction	5	8.6×	7e-03
chemical synaptic transmission	7	6.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

18 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30215260:A:AC	donor_gain	0.6700
21:30215261:C:CC	donor_gain	0.6700
21:30215257:CTGA:C	donor_gain	0.6200
21:30215259:G:T	donor_gain	0.6100
21:30215261:CTT:C	donor_gain	0.6100
21:30214128:T:C	acceptor_gain	0.5500
21:30215256:A:AC	donor_gain	0.5500
21:30215257:C:CC	donor_gain	0.5500
21:30215263:T:TA	donor_gain	0.4500
21:30215262:T:C	donor_gain	0.4400
21:30215258:T:C	donor_gain	0.3600
21:30215247:A:C	donor_gain	0.3300
21:30214128:T:TC	acceptor_gain	0.3200
21:30215243:CACAA:C	donor_gain	0.3200
21:30215254:A:T	donor_gain	0.3200
21:30215248:C:CT	donor_gain	0.2900
21:30215249:T:TT	donor_gain	0.2900
21:30215244:ACAAC:A	donor_gain	0.2300

AlphaMissense

1474 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30215482:G:C	F148L	0.993
21:30215482:G:T	F148L	0.993
21:30215484:A:G	F148L	0.993
21:30215836:C:A	W30C	0.992
21:30215836:C:G	W30C	0.992
21:30215781:C:G	G49R	0.990
21:30215781:C:T	G49R	0.990
21:30215838:A:G	W30R	0.990
21:30215838:A:T	W30R	0.990
21:30215512:G:C	S138R	0.987
21:30215512:G:T	S138R	0.987
21:30215514:T:G	S138R	0.987
21:30215735:C:G	C64S	0.987
21:30215736:A:T	C64S	0.987
21:30215441:C:A	G162V	0.984
21:30215773:C:A	W51C	0.983
21:30215773:C:G	W51C	0.983
21:30215421:A:G	W169R	0.982
21:30215421:A:T	W169R	0.982
21:30215775:A:G	W51R	0.982
21:30215775:A:T	W51R	0.982
21:30215452:T:A	K158N	0.979
21:30215452:T:G	K158N	0.979
21:30215765:C:G	C54S	0.978
21:30215766:A:T	C54S	0.978
21:30215780:C:T	G49E	0.976
21:30215441:C:T	G162E	0.975
21:30215736:A:G	C64R	0.975
21:30215764:G:C	C54W	0.972
21:30215821:G:C	F35L	0.972

dbSNP variants (sampled 300 via entrez): RS1000108779 (21:30214467 A>G), RS1000311791 (21:30216133 A>G), RS1000688416 (21:30216327 G>C), RS1001907881 (21:30217601 C>A,T), RS1002553525 (21:30214239 T>C), RS1003117593 (21:30214589 A>G), RS1003153436 (21:30217908 A>G), RS1003459325 (21:30217054 C>T), RS1003531893 (21:30218094 C>T), RS1003992063 (21:30213818 G>C), RS1006329503 (21:30215178 A>C), RS1006404238 (21:30214335 T>C), RS1006647979 (21:30214928 T>C), RS1007004333 (21:30217646 A>G), RS1007075432 (21:30216876 T>C)

Disease associations

OMIM: gene MIM:611231 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000635_20	Response to statin therapy	8.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, affects cotreatment, increases expression	3
sodium arsenite	decreases expression, affects expression	2
Benzo(a)pyrene	increases expression, affects methylation	2
Nickel	decreases expression	2
Testosterone	affects cotreatment, increases expression, decreases expression	2
bisphenol A	decreases expression	1
quercitrin	affects expression	1
trichostatin A	increases expression	1
perfluorooctanoic acid	decreases expression	1
hydroquinone	decreases expression	1
dibenzo(a,l)pyrene	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
Acetaminophen	decreases expression	1
Azacitidine	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Dimethyl Sulfoxide	increases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Progesterone	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Dihydrotestosterone	increases expression	1
Tetracycline	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Zearalenone	decreases expression	1
Leuprolide	decreases expression	1
Cadmium Chloride	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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