CH25H

Summary

CH25H (cholesterol 25-hydroxylase, HGNC:1907) is a protein-coding gene on chromosome 10q23.31, encoding Cholesterol 25-hydroxylase (O95992). Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes.

This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates.

Source: NCBI Gene 9023 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_003956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1907
Approved symbol	CH25H
Name	cholesterol 25-hydroxylase
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000138135
Ensembl biotype	protein_coding
OMIM	604551
Entrez	9023

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000371852

RefSeq mRNA: 1 — MANE Select: NM_003956 NM_003956

CCDS: CCDS7400

Canonical transcript exons

ENST00000371852 — 1 exons

Exon	Start	End
ENSE00001456308	89205629	89207317

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 93.42.

FANTOM5 (CAGE): breadth broad, TPM avg 8.1118 / max 490.1276, expressed in 711 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110524	8.0425	711
110523	0.0693	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of paranasal sinus	UBERON:0005030	93.42	gold quality
mucosa of stomach	UBERON:0001199	90.92	gold quality
vena cava	UBERON:0004087	89.93	gold quality
endothelial cell	CL:0000115	89.77	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.86	gold quality
epithelium of nasopharynx	UBERON:0001951	85.98	gold quality
lower lobe of lung	UBERON:0008949	85.91	gold quality
gall bladder	UBERON:0002110	85.38	gold quality
gingival epithelium	UBERON:0001949	85.16	gold quality
trachea	UBERON:0003126	84.48	gold quality
cauda epididymis	UBERON:0004360	83.90	gold quality
gingiva	UBERON:0001828	82.57	gold quality
choroid plexus epithelium	UBERON:0003911	82.28	silver quality
omental fat pad	UBERON:0010414	81.89	gold quality
peritoneum	UBERON:0002358	81.82	gold quality
esophagus squamous epithelium	UBERON:0006920	81.35	gold quality
corpus epididymis	UBERON:0004359	80.99	gold quality
parietal pleura	UBERON:0002400	80.96	gold quality
pleura	UBERON:0000977	80.85	gold quality
lower esophagus mucosa	UBERON:0035834	80.43	gold quality
visceral pleura	UBERON:0002401	80.15	gold quality
esophagus mucosa	UBERON:0002469	79.91	gold quality
adipose tissue of abdominal region	UBERON:0007808	79.74	gold quality
spinal cord	UBERON:0002240	79.72	gold quality
epithelial cell of pancreas	CL:0000083	79.26	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	79.17	gold quality
epithelium of esophagus	UBERON:0001976	78.56	gold quality
squamous epithelium	UBERON:0006914	77.22	gold quality
vermiform appendix	UBERON:0001154	77.08	gold quality
upper lobe of left lung	UBERON:0008952	76.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7051	yes	275.82
E-ANND-3	yes	6.59

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATF3, FOXL2, STAT1

miRNA regulators (miRDB)

35 targeting CH25H, 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-1277-5P	100.00	73.95	5056
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-4711-5P	98.89	68.00	965
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-7705	98.69	67.47	543
HSA-MIR-4703-5P	98.53	70.13	1645
HSA-MIR-3942-5P	98.52	69.51	1517

Literature-anchored findings (GeneRIF, showing 21)

• Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H). (PMID:16157450)
• Cholesterol 25-hydroxylase production by dendritic cells and macrophages is regulated by type I interferons. (PMID:20699362)
• These results demonstrate that CH25H constitutes a primary innate response against hepatitis C virus infection through regulating host lipid metabolism. (PMID:25903345)
• Infection with HCV causes up-regulation of interferon-inducible CH25H in vivo. (PMID:25999047)
• Exome analysis in 212 multiple sclerosis and 14 neuromyelitis optica patients identified a rare CH25H p.Q17H mutation in two NMO patients of Asian ancestry. In addition, association analysis of common CH25H variants. (PMID:26857497)
• We detected Cholesterol 25-hydroxylase, the enzyme responsible for 25-HC production, in human spermatozoa at the level of the neck and the post acrosomal area. Upon incubation with spermatozoa, 25-HC induced calcium and cholesterol transients in connection with the acrosomal reaction. (PMID:27912195)
• We examined whether 25HC restricts infection by mammalian reovirus. Results suggest that 25HC inhibits the efficiency of cellular entry of reovirus virions, which may require specific endosomal membrane dynamics for efficient membrane penetration. (PMID:29950420)
• Limited analysis of leukocytes from melanoma patients is suggestive of an association between the loss of CH25H and poor disease outcome. CH25H acts to restrict tumor-derived extracellular vesicles uptake and limit the education of healthy cells to promote metastases. (PMID:30645975)
• The CH25H rs13500 polymorphism is associated with an increased Alzheimer’s disease (AD) risk in the Turkish population and co-occurrence of CH25H ‘T’ and APOE epsilon4 alleles is a strong risk factor for AD. Based on our overall results, it can be concluded that CH25H might have a role in the pathogenesis of AD together with, and independently from APOE (PMID:30684189)
• we observed that cAMP-dependent transcription factor (ATF3) weakly binds to the CH25H promoter, suggesting cooperation with STAT1. However, ZIKV-induced CH25H was independent of type I interferon. These findings provide important information for understanding how the Zika virus induces innate inflammatory responses and promotes the expression of anti-viral CH25H protein. (PMID:31375561)
• Overexpression of both human and murine CH25H inhibited rabies virus (RABV) infection in HEK-293T cells. (PMID:31552533)
• Cholesterol 25-hydroxylase (CH25H) as a promoter of adipose tissue inflammation in obesity and diabetes. (PMID:32229247)
• Cholesterol 25-hydroxylase expression following immune activation in response to SARS-CoV-2 infection. (PMID:34227577)
• Tumor-Suppressive and Immune-Stimulating Roles of Cholesterol 25-hydroxylase in Pancreatic Cancer Cells. (PMID:36378658)
• Involvement of CCL2 and CH25H Genes and TNF signaling pathways in mast cell activation and pathogenesis of chronic spontaneous urticaria. (PMID:37646031)
• The role of cholesterol 25-hydroxylase in viral infections: Mechanisms and implications. (PMID:37660656)
• Research progress on the mechanism of cholesterol-25-hydroxylase in intestinal immunity. (PMID:37720208)
• Expression Pattern of Cholesterol 25-Hydroxylase and Serum Level of 25-Hydroxycholesterol and Relevant Inflammatory Cytokines in Patients with Varying Disease Severity of COVID-19. (PMID:37831916)
• Hypoxia-induced ALKBH5 aggravates synovial aggression and inflammation in rheumatoid arthritis by regulating the m6A modification of CH25H. (PMID:38331303)
• Cholesterol 25-Hydroxylase Protects Against Diabetic Kidney Disease by Regulating ADP Ribosylation Factor 4. (PMID:38816950)
• CH25H Promotes Autophagy and Regulates the Malignant Progression of Laryngeal Squamous Cell Carcinoma Through the PI3K-AKT Pathway. (PMID:39428922)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ch25h	ENSDARG00000045190
mus_musculus	Ch25h	ENSMUSG00000050370
rattus_norvegicus	Ch25h	ENSRNOG00000019141
caenorhabditis_elegans		WBGENE00018036

Paralogs (3): MSMO1 (ENSG00000052802), SC5D (ENSG00000109929), FAXDC2 (ENSG00000170271)

Protein

Protein identifiers

Cholesterol 25-hydroxylase — O95992 (reviewed: O95992)

Alternative names: Cholesterol 25-monooxygenase

All UniProt accessions (1): O95992

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. As an interferon-stimulated gene, has broad antiviral activities against a wide range of enveloped viruses, such as vesicular stomatitis virus (VSV) and SARS coronavirus-2 (SARS-CoV-2). Its product, 25-hydroxycholesterol, activates the ER-localized enzyme ACAT to induce internalization of accessible cholesterol on the plasma membrane and restricts SARS-CoV-2 S protein-mediated fusion which inhibits virus replication. In testis, production of 25-hydroxycholesterol by macrophages plays a role in Leydig cell differentiation. Required to restrain inflammation in macrophages: production of 25-hydroxycholesterol protects macrophages from cholesterol overload, thereby preventing mitochondrial DNA release and subsequent activation of the AIM2 inflammasome.

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. N-glycosylated.

Induction. Induced by interferon (IFN) upon infection by virus like SARS-CoV-2.

Similarity. Belongs to the sterol desaturase family.

RefSeq proteins (1): NP_003947* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006694	Fatty_acid_hydroxylase	Domain
IPR050307	Sterol_desaturase-rel	Family

Pfam: PF04116

Enzyme classification (BRENDA):

• EC 1.14.99.38 — cholesterol 25-monooxygenase (BRENDA: 12 organisms, 12 substrates, 2 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 2 shown:

• cholesterol + AH2 + O2 = 25-hydroxycholesterol + A + H2O (RHEA:21104)
• cholesterol + NADPH + O2 + H(+) = 25-hydroxycholesterol + NADP(+) + H2O (RHEA:46132)

UniProt features (13 total): transmembrane region 3, glycosylation site 3, short sequence motif 3, chain 1, sequence variant 1, mutagenesis site 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95992-F1	92.40	0.87

Functional residue map

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

Glycosylation sites (3): 189, 5, 163

Mutagenesis-validated functional residues (1):

Position	Phenotype
242–243	loss of cholesterol 25-hydroxylase activity. loss of inhibition of infection by sars-cov-2.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-192105	Synthesis of bile acids and bile salts

MSigDB gene sets: 268 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, MODULE_93, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, BENPORATH_ES_WITH_H3K27ME3, TSENG_IRS1_TARGETS_UP, GOBP_CELL_CHEMOTAXIS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_MEMBRANE_FUSION, GOBP_NEGATIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS, GOBP_RESPONSE_TO_TYPE_I_INTERFERON

GO Biological Process (10): lipid metabolic process (GO:0006629), cholesterol metabolic process (GO:0008203), sterol biosynthetic process (GO:0016126), response to type I interferon (GO:0034340), B cell chemotaxis (GO:0035754), negative regulation of cholesterol metabolic process (GO:0090206), negative regulation of fusion of virus membrane with host plasma membrane (GO:1903914), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), lipid biosynthetic process (GO:0008610)

GO Molecular Function (8): C-4 methylsterol oxidase activity (GO:0000254), cholesterol 25-hydroxylase activity (GO:0001567), iron ion binding (GO:0005506), steroid hydroxylase activity (GO:0008395), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872)

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Bile acid and bile salt metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sterol metabolic process	2
lipid metabolic process	2
cytoplasm	2
cellular anatomical structure	2
primary metabolic process	1
secondary alcohol metabolic process	1
steroid biosynthetic process	1
response to cytokine	1
innate immune response	1
lymphocyte chemotaxis	1
cholesterol metabolic process	1
negative regulation of steroid metabolic process	1
negative regulation of small molecule metabolic process	1
regulation of cholesterol metabolic process	1
fusion of virus membrane with host plasma membrane	1
symbiont entry into host cell	1
negative regulation of viral process	1
negative regulation of cellular component organization	1
regulation of fusion of virus membrane with host plasma membrane	1
steroid metabolic process	1
lipid biosynthetic process	1
biosynthetic process	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen	1
steroid hydroxylase activity	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	1
transition metal ion binding	1
monooxygenase activity	1
oxidoreductase activity	1
binding	1
catalytic activity	1
cation binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1486 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CH25H	HSD3B7	Q9H2F3	732
CH25H	CYP7B1	O75881	729
CH25H	CYP46A1	Q9Y6A2	686
CH25H	GPR183	P32249	669
CH25H	SQLE	Q14534	632
CH25H	CYP27A1	Q02318	603
CH25H	SREBF2	Q12772	570
CH25H	CYP39A1	Q9NYL5	568
CH25H	DHCR7	Q9UBM7	562
CH25H	HMGCR	P04035	557
CH25H	APOE	P02649	530
CH25H	RSAD2	Q8WXG1	516
CH25H	CYP51A1	Q16850	510
CH25H	DHCR24	Q15392	509
CH25H	FDFT1	P37268	504

IntAct

9 interactions, top by confidence:

A	B	Type	Score
CH25H	OTX1	psi-mi:“MI:0915”(physical association)	0.560
CH25H	KRTAP12-4	psi-mi:“MI:0915”(physical association)	0.560
CH25H	CCR4	psi-mi:“MI:0915”(physical association)	0.370
CH25H	GPR35	psi-mi:“MI:0915”(physical association)	0.370
OTX1	CH25H	psi-mi:“MI:0915”(physical association)	0.000
KRTAP12-4	CH25H	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): CH25H (Two-hybrid), KRTAP12-4 (Two-hybrid), CH25H (Two-hybrid), CH25H (Two-hybrid)

ESM2 similar proteins: A0A0C5Q309, A0A0E0SNE8, A0JPQ8, A3F5L2, A8WGT1, I1S1Q3, O02858, O13666, O35532, O59715, O62849, O94298, O94457, O95992, P13011, P48618, P50860, P53045, Q1LX59, Q20027, Q2KIA4, Q2LAM0, Q4G1G8, Q4QQV7, Q4R4P4, Q4WB51, Q4WBI8, Q4WIX5, Q567X1, Q594P3, Q5MPP0, Q5PRC0, Q618G2, Q64420, Q6NYE4, Q6P7B9, Q6T707, Q754B9, Q79EF1, Q7L5A8

Diamond homologs: A8WGT1, B8BIM2, F4JLZ6, O95992, Q1LX59, Q20027, Q2QZ14, Q4G1G8, Q4QQV7, Q4W9I3, Q4WBI8, Q55D52, Q567X1, Q5PRC0, Q618G2, Q8VWZ8, Q9Z0F5, Q9ZW22, A0A0D1DT68, A2XAY1, B8B4W4, B8B6I2, O35532, O59933, P53045, Q0D4G3, Q15800, Q1EC69, Q4R4Q4, Q55D54, Q5R574, Q5ZLL6, Q67WQ7, Q69L93, Q6K3D8, Q6UGB2, Q7ZW77, Q8L7W5, Q96IV6, Q9AV39

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

98 predictions. Top by Δscore:

Variant	Effect	Δscore
10:89206524:A:T	acceptor_gain	0.5700
10:89206523:CAGTG:C	acceptor_gain	0.5600
10:89206678:C:CT	donor_gain	0.5600
10:89206760:T:TA	donor_gain	0.4700
10:89206707:G:GC	donor_gain	0.4600
10:89206522:CCAG:C	acceptor_gain	0.4500
10:89206776:A:AC	donor_gain	0.4200
10:89206777:C:CC	donor_gain	0.4200
10:89206641:AG:A	donor_gain	0.4000
10:89206527:G:C	acceptor_gain	0.3800
10:89206652:T:TA	donor_gain	0.3800
10:89206761:C:A	donor_gain	0.3800
10:89207002:CA:C	donor_gain	0.3800
10:89206747:C:CT	acceptor_gain	0.3700
10:89206770:TCATA:T	donor_gain	0.3500
10:89206590:CCCCG:C	donor_gain	0.3400
10:89206728:T:A	donor_gain	0.3400
10:89207003:A:AC	donor_gain	0.3300
10:89206642:G:C	donor_gain	0.3200
10:89206677:C:CT	donor_gain	0.3200
10:89206881:C:CA	donor_gain	0.3200
10:89206507:T:A	donor_gain	0.3100
10:89206523:C:T	acceptor_gain	0.3100
10:89206592:C:CA	donor_gain	0.3100
10:89206598:C:CT	donor_gain	0.3100
10:89206600:C:A	donor_gain	0.3100
10:89206733:A:C	acceptor_gain	0.3100
10:89206404:G:C	donor_gain	0.3000
10:89206521:CCCAG:C	acceptor_gain	0.3000
10:89206527:G:GC	acceptor_gain	0.3000

AlphaMissense

1787 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:89206520:T:G	D258A	0.991
10:89206521:C:G	D258H	0.989
10:89206520:T:A	D258V	0.988
10:89206886:T:A	D136V	0.987
10:89206886:T:G	D136A	0.986
10:89206684:G:C	F203L	0.985
10:89206684:G:T	F203L	0.985
10:89206686:A:G	F203L	0.985
10:89206546:G:C	N249K	0.984
10:89206546:G:T	N249K	0.984
10:89206569:G:C	H242D	0.984
10:89206888:G:C	F135L	0.983
10:89206888:G:T	F135L	0.983
10:89206890:A:G	F135L	0.983
10:89206792:G:C	F167L	0.982
10:89206792:G:T	F167L	0.982
10:89206794:A:G	F167L	0.982
10:89206824:G:C	H157D	0.982
10:89206543:G:C	F250L	0.980
10:89206543:G:T	F250L	0.980
10:89206545:A:G	F250L	0.980
10:89206815:G:C	H160D	0.979
10:89206812:G:C	H161D	0.977
10:89206569:G:T	H242N	0.975
10:89206648:G:C	H215Q	0.975
10:89206648:G:T	H215Q	0.975
10:89206524:A:G	W257R	0.972
10:89206524:A:T	W257R	0.972
10:89206869:A:G	W142R	0.972
10:89206869:A:T	W142R	0.972

dbSNP variants (sampled 300 via entrez): RS1002245025 (10:89205232 A>C), RS1002840588 (10:89208663 T>C), RS1002896433 (10:89208455 C>G,T), RS1003911504 (10:89206263 C>G), RS1004805134 (10:89205958 T>C), RS1005342576 (10:89207586 T>A), RS1005520555 (10:89208959 C>A), RS1005804974 (10:89207486 C>A,T), RS1005857880 (10:89207793 T>C), RS1006300604 (10:89208759 T>C), RS1006351406 (10:89208487 C>T), RS1007850359 (10:89209151 T>G), RS1009447962 (10:89205722 A>T), RS1009660649 (10:89206830 T>C,G), RS1009849600 (10:89205655 T>C)

Disease associations

OMIM: gene MIM:604551 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000675_13	Heart failure	8.000000e-06
GCST000852_5	Atrioventricular conduction	7.000000e-07

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
bisphenol A	decreases expression, decreases methylation, increases expression, affects cotreatment	4
Dexamethasone	decreases expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression, affects expression	2
arsenite	decreases reaction, affects binding	1
sodium arsenite	affects acetylation, affects methylation	1
tetrabromobisphenol A	increases expression	1
hydroquinone	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression, decreases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	affects acetylation, affects methylation	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	affects expression	1
bisphenol S	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Fulvestrant	increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Indomethacin	affects cotreatment, decreases expression	1
Lipopolysaccharides	increases expression, decreases reaction	1
Malathion	increases expression	1
Nickel	increases expression	1
Progesterone	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	increases abundance, decreases expression	1
Dronabinol	decreases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SI73	HAP1 CH25H (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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