FBXO4

Summary

FBXO4 (F-box protein 4, HGNC:13583) is a protein-coding gene on chromosome 5p13.1, encoding F-box only protein 4 (Q9UKT5). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 26272 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_012176

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13583
Approved symbol	FBXO4
Name	F-box protein 4
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Aliases	FBX4
Ensembl gene	ENSG00000151876
Ensembl biotype	protein_coding
OMIM	609090
Entrez	26272

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000281623, ENST00000296812, ENST00000504463, ENST00000505566, ENST00000506496, ENST00000509134, ENST00000513496, ENST00000897874, ENST00000897875, ENST00000897876, ENST00000897877, ENST00000970666

RefSeq mRNA: 3 — MANE Select: NM_012176 NM_001297437, NM_012176, NM_033484

CCDS: CCDS3938, CCDS3939, CCDS75238

Canonical transcript exons

ENST00000281623 — 7 exons

Exon	Start	End
ENSE00001002214	41939441	41939616
ENSE00001002216	41927013	41927248
ENSE00001083807	41934133	41934308
ENSE00001196950	41941192	41941743
ENSE00003598180	41929697	41929917
ENSE00003653448	41933946	41934021
ENSE00003848190	41925281	41925498

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 90.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6790 / max 88.6392, expressed in 1680 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56269	7.6790	1680

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	90.66	gold quality
body of pancreas	UBERON:0001150	89.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.27	gold quality
mucosa of stomach	UBERON:0001199	86.15	gold quality
right uterine tube	UBERON:0001302	85.81	gold quality
upper arm skin	UBERON:0004263	85.73	silver quality
pancreas	UBERON:0001264	85.23	gold quality
tibial nerve	UBERON:0001323	85.01	gold quality
right lobe of thyroid gland	UBERON:0001119	84.76	gold quality
right lobe of liver	UBERON:0001114	84.70	gold quality
left lobe of thyroid gland	UBERON:0001120	84.61	gold quality
spleen	UBERON:0002106	84.29	gold quality
subcutaneous adipose tissue	UBERON:0002190	84.22	gold quality
rectum	UBERON:0001052	84.05	gold quality
thyroid gland	UBERON:0002046	83.86	gold quality
skin of leg	UBERON:0001511	83.64	gold quality
right adrenal gland	UBERON:0001233	83.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.47	gold quality
right adrenal gland cortex	UBERON:0035827	83.43	gold quality
buccal mucosa cell	CL:0002336	83.28	silver quality
left adrenal gland	UBERON:0001234	83.25	gold quality
minor salivary gland	UBERON:0001830	82.94	gold quality
left adrenal gland cortex	UBERON:0035825	82.92	gold quality
descending thoracic aorta	UBERON:0002345	82.89	gold quality
epithelial cell of pancreas	CL:0000083	82.86	gold quality
right lung	UBERON:0002167	82.41	gold quality
ascending aorta	UBERON:0001496	82.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.37	gold quality
thoracic aorta	UBERON:0001515	82.36	gold quality
tibial artery	UBERON:0007610	82.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting FBXO4, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-664B-5P	96.74	67.50	509

Literature-anchored findings (GeneRIF, showing 11)

• Fbx4 is a central regulator of Pin2/TRF1 protein abundance and alterations in the stability of Pin2/TRF1 can have a dramatic impact on telomere length (PMID:16275645)
• SCF(FBX4-alphaB crystallin) is an E3 ubiquitin ligase that promotes ubiquitin-dependent degradation of Thr286-phosphorylated cyclin D1. (PMID:17081987)
• Mutations in Fbx4 inhibit dimerization of the SCF(Fbx4) ligase and contribute to cyclin D1 overexpression in human cancer. (PMID:18598945)
• results reveal an atypical small GTPase domain within Fbx4 as a substrate-binding motif for SCF(Fbx4) and uncover a mechanism for selective ubiquitination and degradation of TRF1 in telomere homeostasis control (PMID:20159592)
• Biochemical studies indicate that both the N-terminal domain and a loop connecting the linker and C-terminal domain of Fbx4 are critical for the dimerization and activation of the protein. (PMID:20181953)
• 14-3-3varepsilon binds to Ser12-phosphorylated Fbx4 to mediate dimerization and function. (PMID:21242966)
• The FBXO4 I377M mutant exhibits impaired cyclin D1 recruitment and ubiquitylation. (PMID:24019069)
• results define the impact of alternative splicing on Fbx4 function, and suggest that the attenuated cyclin D1 degradation by these novel Fbx4 isoforms provides a new insight for aberrant cyclin D1 expression in human cancers. (PMID:24704453)
• FBXO4 is the E3 ubiquitin ligase to interact with and promote Mcl-1 ubiquitination and degradation. (PMID:28776569)
• in head and neck squamous cell carcinoma, fragile X mental retardation syndrome related protein 1 (Fxr1) overexpression correlates with reduced F-box protein 4 (Fbxo4) levels. (PMID:29142209)
• FBX4 mediates rapid cyclin D1 proteolysis upon DNA damage in immortalized esophageal epithelial cells. (PMID:33784509)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxo4	ENSDARG00000074170
mus_musculus	Fbxo4	ENSMUSG00000022184
rattus_norvegicus	Fbxo4	ENSRNOG00000015622

Protein

Protein identifiers

F-box only protein 4 — Q9UKT5 (reviewed: Q9UKT5)

All UniProt accessions (4): Q9UKT5, D6RAJ6, D6RAU6, D6REP2

UniProt curated annotations — full annotation on UniProt →

Function. Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of cyclin-D1 (CCND1) and its subsequent proteasomal degradation. However, it does not act as a major regulator of CCND1 stability during the G1/S transition. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1. Promotes ubiquitination of FXR1 following phosphorylation of FXR1 by GSK3B, leading to FXR1 degradation by the proteasome.

Subunit / interactions. Homodimer. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO4) formed of CUL1, SKP1, RBX1 and FBXO4. Interacts with TERF1; this interaction is prevented in the presence of GNL3L. Identified in a complex with CRYAB and CCND1.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylation at Ser-12 varies during the cell cycle. It is low in resting cells and high in the S phase and the G2/M phase of the cell cycle. Phosphorylation is decreased during late G1 phase. Phosphorylation at Ser-12 promotes homodimerization and is necessary for optimal ubiquitin ligase activity towards CCND1.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UKT5-1	1	yes
Q9UKT5-2	2

RefSeq proteins (3): NP_001284366, NP_036308, NP_277019 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR039588	FBXO4	Family

Pfam: PF12937

UniProt features (59 total): helix 19, sequence conflict 12, strand 9, mutagenesis site 6, sequence variant 5, modified residue 2, splice variant 2, turn 2, chain 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3L82	X-RAY DIFFRACTION	2.4
3L2O	X-RAY DIFFRACTION	2.8
9JKB	ELECTRON MICROSCOPY	3.93

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKT5-F1	78.81	0.38

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 (2): 12, 48

Mutagenesis-validated functional residues (6):

Position	Phenotype
12	reduces homodimerization. reduces ubiquitination of ccnd1.
12	no effect on homodimerization.
13	reduces homodimerization.
23	abolishes homodimerization.
341	abolishes interaction with terf1.
345	abolishes interaction with terf1.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-390471	Association of TriC/CCT with target proteins during biosynthesis
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 232 (showing top): GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_POSITIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_CELLULAR_SENESCENCE

GO Biological Process (22): protein polyubiquitination (GO:0000209), telomere maintenance (GO:0000723), ubiquitin-dependent protein catabolic process (GO:0006511), post-transcriptional regulation of gene expression (GO:0010608), protein ubiquitination (GO:0016567), cellular homeostasis (GO:0019725), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), positive regulation of protein ubiquitination (GO:0031398), regulation of protein stability (GO:0031647), protein destabilization (GO:0031648), positive regulation of telomere maintenance via telomerase (GO:0032212), common myeloid progenitor cell proliferation (GO:0035726), negative regulation of fibroblast proliferation (GO:0048147), cellular response to ionizing radiation (GO:0071479), cellular senescence (GO:0090398), negative regulation of protein localization to nucleus (GO:1900181), positive regulation of protein polyubiquitination (GO:1902916), regulation of DNA damage checkpoint (GO:2000001), cytoplasmic translational initiation (GO:0002183), regulation of macromolecule biosynthetic process (GO:0010556), positive regulation of translation (GO:0045727), membraneless organelle assembly (GO:0140694)

GO Molecular Function (5): ubiquitin-protein transferase activity (GO:0004842), protein homodimerization activity (GO:0042803), ubiquitin protein ligase activity (GO:0061630), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (4): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Chaperonin-mediated protein folding	1
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	3
cellular anatomical structure	2
DNA metabolic process	1
telomere organization	1
modification-dependent protein catabolic process	1
regulation of gene expression	1
protein modification by small protein conjugation	1
homeostatic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
regulation of biological quality	1
regulation of protein stability	1
telomere maintenance via telomerase	1
regulation of telomere maintenance via telomerase	1
positive regulation of telomere maintenance via telomere lengthening	1
positive regulation of DNA biosynthetic process	1
cell population proliferation	1
negative regulation of cell population proliferation	1
fibroblast proliferation	1
regulation of fibroblast proliferation	1
response to ionizing radiation	1
cellular response to radiation	1
cellular process	1
cellular response to stress	1
protein localization to nucleus	1
regulation of protein localization to nucleus	1
negative regulation of protein localization	1
protein polyubiquitination	1
positive regulation of protein ubiquitination	1
regulation of protein polyubiquitination	1
DNA damage checkpoint signaling	1
regulation of cellular response to stress	1
regulation of cell cycle checkpoint	1
cytoplasmic translation	1
translational initiation	1
macromolecule biosynthetic process	1
regulation of biosynthetic process	1
regulation of macromolecule metabolic process	1
ubiquitin-like protein transferase activity	1

Protein interactions and networks

STRING

680 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXO4	SKP1	P34991	880
FBXO4	CUL1	Q13616	800
FBXO4	FBXW8	Q8N3Y1	776
FBXO4	CCND1	P24385	766
FBXO4	TERF1	P54274	741
FBXO4	CUL2	Q13617	725
FBXO4	FBXO9	Q9UK97	639
FBXO4	SKP2	Q13309	597
FBXO4	TINF2	Q9BSI4	595
FBXO4	FBXO11	Q86XK2	586
FBXO4	FBXL3	Q9UKT7	547
FBXO4	FBXW7	Q969H0	512
FBXO4	FBXW2	Q9UKT8	491
FBXO4	CCNF	P41002	490
FBXO4	FBXW5	Q969U6	487
FBXO4	FBXO28	Q9NVF7	487

IntAct

46 interactions, top by confidence:

A	B	Type	Score
FBXO4	SKP1	psi-mi:“MI:0914”(association)	0.930
SKP1	FBXO4	psi-mi:“MI:0915”(physical association)	0.930
FBXO4	CUL1	psi-mi:“MI:0915”(physical association)	0.810
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
FBXO4	YWHAE	psi-mi:“MI:0915”(physical association)	0.610
FBXO4	YWHAE	psi-mi:“MI:0914”(association)	0.610
TNNI3K	FBXO4	psi-mi:“MI:0915”(physical association)	0.560
FBXO4	WFS1	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	FBXO4	psi-mi:“MI:0915”(physical association)	0.560
FBXO4	AMD1	psi-mi:“MI:0914”(association)	0.530
Ywhae	FBXO4	psi-mi:“MI:0407”(direct interaction)	0.520
FBXO4	Ywhae	psi-mi:“MI:0914”(association)	0.520
FBXO4	SKP1	psi-mi:“MI:0915”(physical association)	0.510
FBXO4	Ywhae	psi-mi:“MI:0915”(physical association)	0.400
FBXO4	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.400
SKP1	BHLHE40	psi-mi:“MI:0914”(association)	0.350
SKP1	RNASET2	psi-mi:“MI:0914”(association)	0.350
FBXO4	PCBP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (105): SKP1 (Affinity Capture-Western), CCND1 (Biochemical Activity), SKP1 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), AMD1 (Affinity Capture-MS), DEFA1B (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), AP1M1 (Affinity Capture-MS), ESPL1 (Affinity Capture-MS), TERF1 (Affinity Capture-Western), FBXO4 (Affinity Capture-Western), Fmr1 (Affinity Capture-MS), Fxr1 (Affinity Capture-MS), Fxr2 (Affinity Capture-MS), FMR1 (Affinity Capture-Western)

ESM2 similar proteins: A1KXW8, A6QL50, E1BGQ2, H0Y354, O94955, P47224, Q08326, Q0IIH8, Q1JQA1, Q1RMS8, Q1RMZ1, Q2TBU5, Q3T1H6, Q4R372, Q4R528, Q4R9C4, Q5F480, Q5F4A1, Q5I0G3, Q5RCQ0, Q5RFG8, Q5TFE4, Q5TYM5, Q641X7, Q6L9T8, Q6PIP5, Q7L622, Q7Z6J8, Q7ZX59, Q86X60, Q8BFZ8, Q8BKW4, Q8BM85, Q8BX13, Q8CEL2, Q8N5C7, Q8N635, Q8NHU2, Q8TCF1, Q8TCJ0

Diamond homologs: A2VE78, D3Z902, F1MNN4, Q3T0J1, Q5R6E1, Q5XGI3, Q8C2S5, Q8CHQ0, Q8VBV4, Q969H0, Q9UKA1, Q9UKT5, A6H779, B8M7Q5, C0HAC0, Q09855, Q2YDQ5, Q58DG6, Q5R3Z8, Q6INS1, Q7TPD1, Q7TSL3, Q86XK2, Q8BH16, Q8IX29, Q94251, Q96IG2, Q9CZV8, Q9QZH7, Q9QZM9, Q9UKC9

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
GSK3B	up-regulates	FBXO4	phosphorylation
FBXO4	“down-regulates quantity by destabilization”	FXR1	binding
FBXO4	up-regulates	“Cullin 1-RBX1-Skp1”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1296 predictions. Top by Δscore:

Variant	Effect	Δscore
5:41925417:GTCA:G	donor_gain	1.0000
5:41925421:G:GG	donor_gain	1.0000
5:41927244:GCAGT:G	donor_gain	1.0000
5:41927247:GT:G	donor_gain	1.0000
5:41927249:G:GG	donor_gain	1.0000
5:41929695:A:AG	acceptor_gain	1.0000
5:41929696:G:A	acceptor_loss	1.0000
5:41929696:G:GA	acceptor_gain	1.0000
5:41929696:GCT:G	acceptor_gain	1.0000
5:41929696:GCTAT:G	acceptor_gain	1.0000
5:41934119:A:AG	acceptor_gain	1.0000
5:41934131:A:AG	acceptor_gain	1.0000
5:41934132:G:GA	acceptor_gain	1.0000
5:41934132:GAAA:G	acceptor_gain	1.0000
5:41934304:TAAAA:T	donor_gain	1.0000
5:41934305:AAAA:A	donor_gain	1.0000
5:41934306:AAA:A	donor_gain	1.0000
5:41934307:AA:A	donor_gain	1.0000
5:41934307:AAGT:A	donor_loss	1.0000
5:41934308:AGT:A	donor_loss	1.0000
5:41934309:G:C	donor_loss	1.0000
5:41934309:G:GG	donor_gain	1.0000
5:41934310:TAA:T	donor_loss	1.0000
5:41925431:A:T	donor_gain	0.9900
5:41925460:G:GT	donor_gain	0.9900
5:41925719:G:T	donor_gain	0.9900
5:41927008:TTCA:T	acceptor_loss	0.9900
5:41927011:A:AG	acceptor_gain	0.9900
5:41927011:AGATT:A	acceptor_gain	0.9900
5:41927012:G:GG	acceptor_gain	0.9900

AlphaMissense

2542 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:41929810:C:A	A180D	0.999
5:41929818:G:A	G183R	0.999
5:41929818:G:C	G183R	0.999
5:41929819:G:A	G183E	0.999
5:41934142:A:C	R244S	0.999
5:41934142:A:T	R244S	0.999
5:41929807:T:C	F179S	0.998
5:41929819:G:T	G183V	0.998
5:41934141:G:C	R244T	0.998
5:41934272:G:T	G288W	0.998
5:41934273:G:A	G288E	0.998
5:41927118:T:A	W99R	0.997
5:41927118:T:C	W99R	0.997
5:41929828:T:C	L186S	0.997
5:41933952:G:A	G218E	0.997
5:41933967:T:C	F223S	0.997
5:41934006:T:C	L236S	0.997
5:41934008:T:C	Y237H	0.997
5:41934276:T:C	F289S	0.997
5:41939522:T:A	V327D	0.997
5:41929824:G:C	G185R	0.996
5:41929825:G:A	G185D	0.996
5:41934008:T:G	Y237D	0.996
5:41934141:G:T	R244I	0.996
5:41934279:T:A	I290N	0.996
5:41934281:T:G	Y291D	0.996
5:41934285:T:A	V292D	0.996
5:41939611:T:A	W357R	0.996
5:41939611:T:C	W357R	0.996
5:41941193:T:A	V359D	0.996

dbSNP variants (sampled 300 via entrez): RS1000005762 (5:42021582 A>G), RS1000066688 (5:41928059 G>T), RS1000092793 (5:42025563 A>C), RS1000094961 (5:41964595 T>TC,TG), RS1000150655 (5:41939655 TG>T), RS1000159105 (5:41924789 T>G), RS1000181552 (5:42022584 T>G), RS1000192565 (5:41981864 G>A), RS1000227811 (5:41961748 G>A), RS1000233475 (5:42027378 C>T), RS1000249523 (5:42028714 G>A,C), RS1000267303 (5:41939316 T>C), RS1000293682 (5:42015110 C>T), RS1000320268 (5:41981588 A>T), RS1000353995 (5:41974614 T>C)

Disease associations

OMIM: gene MIM:609090 | 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	4
Arsenic	decreases expression, increases abundance, affects cotreatment, increases expression	3
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
glycidyl methacrylate	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
trichostatin A	affects expression	1
sulforaphane	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
nickel sulfate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Acetylglucosamine	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	decreases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Phthalic Acids	decreases methylation	1
Testosterone	affects cotreatment, decreases expression	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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