RIOX1

Summary

RIOX1 (ribosomal oxygenase 1, HGNC:20968) is a protein-coding gene on chromosome 14q24.3, encoding Ribosomal oxygenase 1 (Q9H6W3). Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase.

Enables peptidyl-histidine dioxygenase activity and protein demethylase activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of osteoblast differentiation; and regulation of DNA repair. Located in nucleolus.

Source: NCBI Gene 79697 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_024644

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20968
Approved symbol	RIOX1
Name	ribosomal oxygenase 1
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21802, NO66, MAPJD, JMJD9
Ensembl gene	ENSG00000170468
Ensembl biotype	protein_coding
OMIM	611919
Entrez	79697

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000304061

RefSeq mRNA: 1 — MANE Select: NM_024644 NM_024644

CCDS: CCDS73660

Canonical transcript exons

ENST00000304061 — 1 exons

Exon	Start	End
ENSE00001130445	73490933	73493394

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 87.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8688 / max 85.7018, expressed in 1775 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140534	10.8688	1775

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	87.73	gold quality
sperm	CL:0000019	86.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.22	gold quality
secondary oocyte	CL:0000655	84.43	gold quality
male germ cell	CL:0000015	84.18	silver quality
oviduct epithelium	UBERON:0004804	82.77	silver quality
granulocyte	CL:0000094	82.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.21	gold quality
cortical plate	UBERON:0005343	81.56	gold quality
testis	UBERON:0000473	79.83	gold quality
right testis	UBERON:0004534	79.43	gold quality
ganglionic eminence	UBERON:0004023	79.38	gold quality
ileal mucosa	UBERON:0000331	79.31	gold quality
left testis	UBERON:0004533	79.16	gold quality
islet of Langerhans	UBERON:0000006	79.08	gold quality
heart right ventricle	UBERON:0002080	79.08	gold quality
mucosa of transverse colon	UBERON:0004991	78.90	gold quality
hair follicle	UBERON:0002073	78.29	gold quality
ventricular zone	UBERON:0003053	78.21	gold quality
mucosa of sigmoid colon	UBERON:0004993	78.19	gold quality
buccal mucosa cell	CL:0002336	78.15	gold quality
colonic mucosa	UBERON:0000317	78.05	gold quality
fallopian tube	UBERON:0003889	77.74	gold quality
cauda epididymis	UBERON:0004360	77.12	gold quality
embryo	UBERON:0000922	77.07	gold quality
medial globus pallidus	UBERON:0002477	77.01	gold quality
tongue squamous epithelium	UBERON:0006919	76.87	gold quality
stromal cell of endometrium	CL:0002255	76.71	gold quality
choroid plexus epithelium	UBERON:0003911	76.64	gold quality
myocardium	UBERON:0002349	76.56	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting RIOX1, 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-3120-5P	100.00	65.56	965
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-548B-3P	99.38	67.26	1000
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-4511	98.32	67.97	1500
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-1245B-3P	98.01	68.91	1387

Literature-anchored findings (GeneRIF, showing 12)

• NO66 has functions in ribosome biogenesis and in the replication or remodeling of certain heterochromatic regions (PMID:14742713)
• interactions between NO66 and Osx regulate Osx-target genes in osteoblasts by modulating histone methylation states (PMID:19927124)
• NO66 crystallized in space group P3(1) or P3(2), with unit-cell parameters a = 89.35, b = 89.35, c = 304.86 A, alpha = beta = 90, gamma = 120 degrees , and the crystal is likely to contain four molecules in the asymmetric unit (PMID:22750859)
• hinge domain-dependent oligomerization of NO66 is essential for inhibition of Osx-dependent gene activation. (PMID:23620590)
• confirmed the hydroxylase activity of NO66 and showed that oligomerization is required for NO66 to efficiently catalyze the hydroxylation of Rpl8 (PMID:26327385)
• Results show that high expression levels of SMYD2, SETD3, and NO66 in renal cell tumors. Their low expression levels were significantly associated with shorter disease-specific and disease-free survival. (PMID:26488939)
• our findings clearly indicated that epigenetic regulation by NO66 plays an important role in cancer metastatic processes in CRC. (PMID:27473587)
• The role of NO66 as a key oncogenic driver in Prostate cancer, causing osteolytic lesions through upstream epigenetic regulation of key genes for survival, invasion and metastasis, and pro-osteoclastic factors. (PMID:30858546)
• High NO66 expression is associated with Glioma. (PMID:31704826)
• Mechanisms Regulating Muscle Protein Synthesis in CKD. (PMID:32764136)
• NO66 overexpression rescues ethanol-induced cell apoptosis in human AC16 cardiomyocytes by suppressing PTEN and activating the PI3K/Akt signaling. (PMID:33085743)
• The JmjC-domain protein NO66/RIOX-1 affects the balance between proliferation and maturation in acute myeloid leukemia. (PMID:33745927)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	riox1	ENSDARG00000067838
mus_musculus	Riox1	ENSMUSG00000046791
rattus_norvegicus	Riox1	ENSRNOG00000010126
drosophila_melanogaster	NO66	FBGN0266570
caenorhabditis_elegans	jmjc-1	WBGENE00020902

Paralogs (1): RIOX2 (ENSG00000170854)

Protein

Protein identifiers

Ribosomal oxygenase 1 — Q9H6W3 (reviewed: Q9H6W3)

Alternative names: 60S ribosomal protein L8 histidine hydroxylase, Bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66, Myc-associated protein with JmjC domain, Nucleolar protein 66, Ribosomal oxygenase NO66

All UniProt accessions (1): Q9H6W3

UniProt curated annotations — full annotation on UniProt →

Function. Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates ‘Lys-4’ (H3K4me) and ‘Lys-36’ (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 ‘Lys-4’ (H3K4me3) and monomethylated H3 ‘Lys-4’ (H3K4me1) residues, while it has weaker activity for dimethylated H3 ‘Lys-36’ (H3K36me2). Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation. Also catalyzes demethylation of non-histone proteins, such as CGAS: demethylation of monomethylated CGAS promotes interaction between CGAS and PARP1, followed by PARP1 inactivation. Also catalyzes the hydroxylation of 60S ribosomal protein L8 on ‘His-216’, thereby playing a role in ribosome biogenesis. Participates in MYC-induced transcriptional activation.

Subunit / interactions. Interacts with SP7/OSX; the interaction is direct. Interacts with MYC. Interacts with PHF19; leading to its recruitment to H3K36me3 sites.

Subcellular location. Nucleus. Nucleolus. Nucleoplasm.

Tissue specificity. Widely expressed. Overexpressed in lung carcinomas.

Cofactor. Binds 1 Fe(2+) ion per subunit.

Similarity. Belongs to the ROX family. NO66 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H6W3-1	1	yes
Q9H6W3-2	2

RefSeq proteins (1): NP_078920* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003347	JmjC_dom	Domain
IPR039994	NO66-like	Family
IPR049043	WHD_RIOX1	Domain

Pfam: PF08007, PF21233

Catalyzed reactions (Rhea), 3 shown:

• N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 2-oxoglutarate + 2 O2 = L-lysyl(36)-[histone H3] + 2 formaldehyde + 2 succinate + 2 CO2 (RHEA:42032)
• L-histidyl-[protein] + 2-oxoglutarate + O2 = (3S)-3-hydroxy-L-histidyl-[protein] + succinate + CO2 (RHEA:54256)
• N(6)-methyl-L-lysyl-[protein] + 2-oxoglutarate + O2 = L-lysyl-[protein] + formaldehyde + succinate + CO2 (RHEA:60924)

UniProt features (64 total): helix 21, strand 20, turn 5, modified residue 4, sequence variant 4, binding site 3, region of interest 2, chain 1, domain 1, splice variant 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
4CCJ	X-RAY DIFFRACTION	2.15
4CCK	X-RAY DIFFRACTION	2.15
4Y3O	X-RAY DIFFRACTION	2.2
4CCN	X-RAY DIFFRACTION	2.23
4E4H	X-RAY DIFFRACTION	2.28
4CCO	X-RAY DIFFRACTION	2.3
4DIQ	X-RAY DIFFRACTION	2.4
4CCM	X-RAY DIFFRACTION	2.51
4Y33	X-RAY DIFFRACTION	2.7
4Y4R	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6W3-F1	81.24	0.73

Functional residue map

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

Ligand- & substrate-binding residues (3): 340; 342; 405

Post-translational modifications (4): 63, 109, 1, 60

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9629569	Protein hydroxylation

MSigDB gene sets: 146 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, ELVIDGE_HYPOXIA_DN, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_OSTEOBLAST_DIFFERENTIATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_REGULATION_OF_DNA_REPAIR, chr14q24, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_OSSIFICATION, GOBP_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GOBP_NEGATIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION, GOBP_CHROMATIN_REMODELING

GO Biological Process (7): DNA repair (GO:0006281), negative regulation of osteoblast differentiation (GO:0045668), negative regulation of DNA repair (GO:0045738), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA repair (GO:0006282), chromatin organization (GO:0006325), chromatin remodeling (GO:0006338)

GO Molecular Function (12): iron ion binding (GO:0005506), 2-oxoglutarate-dependent dioxygenase activity (GO:0016706), histone H3K4 demethylase activity (GO:0032453), histone H3K4me/H3K4me2/H3K4me3 demethylase activity (GO:0034647), peptidyl-histidine dioxygenase activity (GO:0036139), histone H3K36 demethylase activity (GO:0051864), protein demethylase activity (GO:0140457), histone H3K36me/H3K36me2 demethylase activity (GO:0140680), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872), dioxygenase activity (GO:0051213)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
2-oxoglutarate-dependent dioxygenase activity	3
DNA repair	2
histone H3 demethylase activity	2
catalytic activity, acting on a protein	2
nuclear lumen	2
DNA metabolic process	1
DNA damage response	1
osteoblast differentiation	1
negative regulation of cell differentiation	1
regulation of osteoblast differentiation	1
regulation of DNA repair	1
negative regulation of response to stimulus	1
negative regulation of DNA metabolic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
cellular component organization	1
chromatin organization	1
transition metal ion binding	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	1
dioxygenase activity	1
histone H3K4 demethylase activity	1
demethylase activity	1
histone H3K36 demethylase activity	1
binding	1
catalytic activity	1
cation binding	1
oxidoreductase activity	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

554 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RIOX1	PHF19	Q5T6S3	941
RIOX1	SP7	Q8TDD2	916
RIOX1	RIOK1	Q9BRS2	806
RIOX1	RASGEF1A	Q8N9B8	797
RIOX1	SBNO1	A3KN83	796
RIOX1	TGFBRAP1	Q8WUH2	777
RIOX1	JMJD4	Q9H9V9	737
RIOX1	TYW5	A2RUC4	702
RIOX1	HSPBAP1	Q96EW2	681
RIOX1	RPL8	P25120	672
RIOX1	RPL27A	P46776	655
RIOX1	KDM8	Q8N371	648
RIOX1	KDM2B	Q8NHM5	614
RIOX1	OGFOD1	Q8N543	582
RIOX1	KDM4A	O75164	570

IntAct

54 interactions, top by confidence:

A	B	Type	Score
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
RIOX1	Sp7	psi-mi:“MI:0915”(physical association)	0.540
Sp7	RIOX1	psi-mi:“MI:0915”(physical association)	0.540
RIOX1	Sp7	psi-mi:“MI:0407”(direct interaction)	0.540
Sp7	RIOX1	psi-mi:“MI:0407”(direct interaction)	0.540
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZSCAN5A	KDM1A	psi-mi:“MI:0914”(association)	0.530
RIOX1	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
NOP56	C12orf43	psi-mi:“MI:0914”(association)	0.350
VIM	PSIP1	psi-mi:“MI:0914”(association)	0.350
C1qbp		psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
USP42	KPNA3	psi-mi:“MI:0914”(association)	0.350
RIOX1	NDUFS7	psi-mi:“MI:0914”(association)	0.350
MTDH	NOP56	psi-mi:“MI:0914”(association)	0.350
CEP192	WASL	psi-mi:“MI:0914”(association)	0.350
CCP110	A2ML1	psi-mi:“MI:0914”(association)	0.350
rl3_rl3l_human	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Affinity Capture-MS), C14orf169 (Proximity Label-MS)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: A3KP59, A5PK74, A8QFQ3, A8XEA2, B0WMG3, B3MSI4, B3NU20, B4GUZ2, B4I100, B4JMQ2, B4L6Q5, B4M7P8, B4NP88, B4Q068, B4R4H1, B5DUH6, C3XRY1, D3ZU57, O01658, Q16W06, Q54K96, Q5EA24, Q5R673, Q5ZMM1, Q7K4H4, Q8CD15, Q8CFC1, Q8IUF8, Q9H6W3, Q9JJF3, P27431, P44683

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
2-oxoglutarate(2-)	“up-regulates activity”	RIOX1	“chemical activation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
Peptide chain elongation	9	25.9×	3e-09
Viral mRNA Translation	9	25.9×	3e-09
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	9	25.7×	3e-09
Selenocysteine synthesis	9	24.6×	3e-09
Eukaryotic Translation Termination	9	24.6×	3e-09
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	9	24.1×	3e-09
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	9	24.1×	3e-09
Formation of a pool of free 40S subunits	9	22.9×	4e-09

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	9	29.8×	6e-09
translation	10	18.4×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

345 predictions. Top by Δscore:

Variant	Effect	Δscore
14:73493125:C:CC	acceptor_gain	0.9500
14:73491482:AGCGG:A	donor_gain	0.9200
14:73493120:CTCAT:C	acceptor_gain	0.9000
14:73493122:CAT:C	acceptor_gain	0.9000
14:73491483:G:C	donor_gain	0.8800
14:73492158:G:GT	donor_gain	0.8500
14:73492338:CAGG:C	acceptor_gain	0.8300
14:73493121:TCATC:T	acceptor_loss	0.8300
14:73493124:TC:T	acceptor_loss	0.8300
14:73493126:T:C	acceptor_loss	0.8300
14:73493127:A:C	acceptor_loss	0.8200
14:73492147:T:TA	donor_gain	0.7700
14:73492342:C:CC	acceptor_gain	0.7300
14:73493129:G:C	acceptor_gain	0.7000
14:73493132:C:CT	acceptor_gain	0.6900
14:73492157:C:CT	donor_gain	0.6600
14:73491753:G:T	donor_gain	0.6400
14:73493094:TCGG:T	acceptor_loss	0.6400
14:73493062:TTA:T	donor_gain	0.6300
14:73493129:G:GC	acceptor_gain	0.6300
14:73493061:TTTA:T	donor_gain	0.6100
14:73493063:TAC:T	donor_gain	0.6100
14:73493064:A:T	donor_gain	0.6000
14:73493061:TTTAC:T	donor_loss	0.5900
14:73493063:TA:T	donor_loss	0.5900
14:73493065:C:CG	donor_loss	0.5900
14:73493066:C:T	donor_loss	0.5900
14:73493067:T:C	donor_loss	0.5800
14:73493059:CATT:C	donor_loss	0.5700
14:73490971:G:C	donor_gain	0.5500

AlphaMissense

4079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:73492026:T:C	F337L	1.000
14:73492027:T:C	F337S	1.000
14:73492028:T:A	F337L	1.000
14:73492028:T:G	F337L	1.000
14:73492035:C:G	H340D	1.000
14:73492042:A:T	D342V	1.000
14:73492086:T:A	W357R	1.000
14:73492086:T:C	W357R	1.000
14:73492230:C:G	H405D	1.000
14:73491999:T:C	Y328H	0.999
14:73492003:T:C	L329P	0.999
14:73492026:T:A	F337I	0.999
14:73492026:T:G	F337V	0.999
14:73492027:T:G	F337C	0.999
14:73492037:C:A	H340Q	0.999
14:73492037:C:G	H340Q	0.999
14:73492041:G:C	D342H	0.999
14:73492042:A:C	D342A	0.999
14:73492042:A:G	D342G	0.999
14:73492043:C:A	D342E	0.999
14:73492043:C:G	D342E	0.999
14:73492051:A:T	E345V	0.999
14:73492057:T:C	F347S	0.999
14:73492075:G:T	G353V	0.999
14:73492080:A:G	K355E	0.999
14:73492081:A:T	K355I	0.999
14:73492082:A:C	K355N	0.999
14:73492082:A:T	K355N	0.999
14:73492087:G:C	W357S	0.999
14:73492088:G:C	W357C	0.999

dbSNP variants (sampled 300 via entrez): RS1000414511 (14:73491297 C>A,G), RS1000468253 (14:73491491 C>G,T), RS1000764213 (14:73490900 C>A,G,T), RS1000801752 (14:73493195 C>T), RS1002535409 (14:73489108 A>G), RS1002996514 (14:73489623 A>C,G), RS1003215807 (14:73493096 G>A), RS1003703772 (14:73492668 C>G,T), RS1004159714 (14:73490820 G>A,C), RS1004726973 (14:73493519 G>C,T), RS1006228614 (14:73493856 A>C,T), RS1006364679 (14:73493438 A>AATGCAGGAGC), RS1006734372 (14:73490472 G>A,T), RS1007114225 (14:73490840 C>A,G), RS1007511668 (14:73489026 A>G)

Disease associations

OMIM: gene MIM:611919 | 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)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs758109	ACOT1, HEATR4, RIOX1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
nivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Rosiglitazone	affects cotreatment, decreases expression, decreases reaction	1
Temozolomide	decreases expression	1
Pioglitazone	affects cotreatment, decreases expression	1
Troglitazone	decreases reaction, decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Copper	affects binding, decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Silver	decreases expression	1

Clinical trials (associated diseases)

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