FBXO2

Summary

FBXO2 (F-box protein 2, HGNC:13581) is a protein-coding gene on chromosome 1p36.22, encoding F-box only protein 2 (Q9UK22). 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. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state.

Source: NCBI Gene 26232 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_012168

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13581
Approved symbol	FBXO2
Name	F-box protein 2
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	FBX2, Nfb42, Fbs1, Fbg1
Ensembl gene	ENSG00000116661
Ensembl biotype	protein_coding
OMIM	607112
Entrez	26232

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000354287, ENST00000465901, ENST00000466919, ENST00000471501, ENST00000475961, ENST00000642025, ENST00000858439, ENST00000858440, ENST00000858441

RefSeq mRNA: 1 — MANE Select: NM_012168 NM_012168

CCDS: CCDS130

Canonical transcript exons

ENST00000354287 — 6 exons

Exon	Start	End
ENSE00000743829	11649779	11649874
ENSE00001042700	11649087	11649225
ENSE00001042704	11654319	11654429
ENSE00001817500	11648387	11648828
ENSE00003469555	11650466	11650834
ENSE00003570974	11649945	11650074

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 98.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1574 / max 200.8343, expressed in 945 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10299	4.2717	543
10296	2.0185	479
10300	1.5013	520
10297	0.5437	201
10301	0.4316	179
10298	0.2842	146
201350	0.1064	67

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amygdala	UBERON:0001876	98.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.67	gold quality
right frontal lobe	UBERON:0002810	98.57	gold quality
anterior cingulate cortex	UBERON:0009835	98.49	gold quality
spinal cord	UBERON:0002240	98.47	gold quality
cingulate cortex	UBERON:0003027	98.42	gold quality
caudate nucleus	UBERON:0001873	98.24	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.11	gold quality
putamen	UBERON:0001874	98.10	gold quality
nucleus accumbens	UBERON:0001882	98.09	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.07	gold quality
prefrontal cortex	UBERON:0000451	97.87	gold quality
cerebellar hemisphere	UBERON:0002245	97.79	gold quality
cerebellar cortex	UBERON:0002129	97.78	gold quality
cerebellar vermis	UBERON:0004720	97.73	gold quality
hypothalamus	UBERON:0001898	97.62	gold quality
pons	UBERON:0000988	97.29	gold quality
dorsal root ganglion	UBERON:0000044	97.14	gold quality
pituitary gland	UBERON:0000007	97.07	gold quality
cerebellum	UBERON:0002037	97.06	gold quality
superior vestibular nucleus	UBERON:0007227	96.97	gold quality
cranial nerve II	UBERON:0000941	96.89	gold quality
adenohypophysis	UBERON:0002196	96.76	gold quality
substantia nigra	UBERON:0002038	96.73	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.73	gold quality
midbrain	UBERON:0001891	96.67	gold quality
frontal cortex	UBERON:0001870	96.52	gold quality
ventral tegmental area	UBERON:0002691	96.37	gold quality
temporal lobe	UBERON:0001871	96.36	gold quality
body of pancreas	UBERON:0001150	95.78	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-ENAD-21	yes	249.88
E-CURD-7	yes	240.18
E-CURD-114	yes	65.16
E-ANND-3	yes	12.67
E-GEOD-84465	yes	11.54
E-HCAD-25	yes	7.59
E-MTAB-7316	yes	7.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting FBXO2, 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-7110-3P	100.00	73.18	2486
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-4474-3P	96.97	65.87	870
HSA-MIR-644A	96.02	66.52	786

Literature-anchored findings (GeneRIF, showing 13)

• interaction of the HSV-1 UL9 protein with NFB42 results in its polyubiquitination and subsequent degradation by the 26S proteasome (PMID:12904574)
• FBG1 is unique among known F-box proteins in that it contains a non-canonical D-Box within F-box domain, required for the growth arrest. (PMID:21135578)
• FBG1 degrades A1AT-Z through a Beclin1-dependent arm of autophagy. (PMID:26295339)
• Although the overall structure of FBG3 is similar to that of Fbs1, the residues that form the Fbs1 carbohydrate-binding pocket failed to be superposed with the corresponding residues of FBG3. (PMID:26460611)
• Structural analysis of a function-associated loop mutant of the substrate-recognition domain of Fbs1 ubiquitin ligase has been presented. (PMID:27487926)
• This study provides new knowledge of the CFTR biosynthetic pathway. It suggests that SYVN1 and FBXO2 represent two distinct multiprotein complexes that may degrade DeltaF508-CFTR in airway epithelia and identifies a new role for NEDD8 in regulating DeltaF508-CFTR ubiquitination. (PMID:27756846)
• These results suggest that the FBXO2 variant rs9614 C allele may decrease the Parkinson Disease risk in mainland Han Chinese and may be a biomarker for PD. (PMID:28341977)
• Fbs1 GYR variant may be employed for substantially unbiased enrichment of N-linked glycopeptides from human serum (PMID:28534482)
• summary, our findings suggest that FBXO2-regulated EMT led to carcinogenicity in gastric cancer and may be a novel target in the diagnosis and treatment of gastric cancer. (PMID:29269301)
• Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain. (PMID:32931479)
• FBXO2 targets glycosylated SUN2 for ubiquitination and degradation to promote ovarian cancer development. (PMID:35525855)
• F-box only protein 2 exacerbates non-alcoholic fatty liver disease by targeting the hydroxyl CoA dehydrogenase alpha subunit. (PMID:37576703)
• FBXO2 promotes the progression of papillary thyroid carcinoma through the p53 pathway. (PMID:39343799)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxo2	ENSDARG00000099306
mus_musculus	Fbxo2	ENSMUSG00000041556
rattus_norvegicus	Fbxo2	ENSRNOG00000009409

Paralogs (5): FBXO6 (ENSG00000116663), FBXO44 (ENSG00000132879), FBXO27 (ENSG00000161243), NCCRP1 (ENSG00000188505), FBXO17 (ENSG00000269190)

Protein

Protein identifiers

F-box only protein 2 — Q9UK22 (reviewed: Q9UK22)

All UniProt accessions (3): Q9UK22, A0A286YF37, R4GNH2

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. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type.

Subunit / interactions. Component of the SCF(FBXO2) complex consisting of CUL1, RBX1, SKP1 and FBXO2. Predominantly detected as heterodimer with SKP1; the heterodimer with SKP1 is not part of the SCF(FBXO2) complex.

Subcellular location. Cytoplasm. Microsome membrane.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_036300* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR007397	F-box-assoc_dom	Domain
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR039752	F-box_only	Family

Pfam: PF04300, PF12937

UniProt features (13 total): sequence conflict 4, domain 2, binding site 2, chain 1, region of interest 1, compositionally biased region 1, site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UK22-F1	88.69	0.76

Functional residue map

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

Catalytic / active sites (1): 173 (important for carbohydrate binding)

Ligand- & substrate-binding residues (2): 210–212; 278–279

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 149 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_XENOPHAGY, CHANDRAN_METASTASIS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODRIGUES_NTN1_TARGETS_DN, GOBP_MACROAUTOPHAGY

GO Biological Process (10): proteolysis (GO:0006508), glycoprotein catabolic process (GO:0006516), negative regulation of cell population proliferation (GO:0008285), protein ubiquitination (GO:0016567), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), regulation of protein ubiquitination (GO:0031396), protein modification process (GO:0036211), ERAD pathway (GO:0036503), regulation of protein catabolic process at postsynapse, modulating synaptic transmission (GO:0099576), ubiquitin-dependent protein catabolic process (GO:0006511)

GO Molecular Function (6): amyloid-beta binding (GO:0001540), ubiquitin-protein transferase activity (GO:0004842), carbohydrate binding (GO:0030246), obsolete denatured protein binding (GO:0031249), protein binding (GO:0005515), ubiquitin protein ligase activity (GO:0061630)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), dendritic spine (GO:0043197), extrinsic component of postsynaptic membrane (GO:0098890), glutamatergic synapse (GO:0098978), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
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
cellular anatomical structure	3
protein metabolic process	2
protein ubiquitination	2
postsynapse	2
binding	2
cytoplasm	2
glycoprotein metabolic process	1
protein catabolic process	1
carbohydrate derivative catabolic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
protein modification by small protein conjugation	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
regulation of protein modification by small protein conjugation or removal	1
macromolecule modification	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
chemical synaptic transmission	1
regulation of protein catabolic process	1
postsynaptic modulation of chemical synaptic transmission	1
modification-dependent protein catabolic process	1
peptide binding	1
ubiquitin-like protein transferase activity	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
intracellular anatomical structure	1
cullin-RING ubiquitin ligase complex	1
dendrite	1
neuron spine	1
postsynaptic membrane	1
extrinsic component of synaptic membrane	1
synapse	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1010 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXO2	SKP1	P34991	935
FBXO2	DISP3	Q9P2K9	872
FBXO2	STUB1	Q9UNE7	833
FBXO2	UBIAD1	Q9Y5Z9	830
FBXO2	BTRC	Q9Y297	824
FBXO2	CUL1	Q13616	751
FBXO2	CCNF	P41002	643
FBXO2	PRKN	O60260	638
FBXO2	ITGB1	P05556	630
FBXO2	FBXO6	Q9NRD1	627
FBXO2	SMURF1	Q9HCE7	604
FBXO2	SKP2	Q13309	548
FBXO2	RBX1	P62877	539
FBXO2	RNF41	Q9H4P4	521
FBXO2	FBXO16	Q8IX29	521

IntAct

159 interactions, top by confidence:

A	B	Type	Score
SKP1	FBXO2	psi-mi:“MI:0915”(physical association)	0.890
FBXO2	SKP1	psi-mi:“MI:0915”(physical association)	0.890
CTSV	CTSL	psi-mi:“MI:0914”(association)	0.720
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
EMC1	EMC8	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
BCHE	ENTPD5	psi-mi:“MI:0914”(association)	0.640
PAX4	FBXO2	psi-mi:“MI:0915”(physical association)	0.560
PFDN6	FBXO2	psi-mi:“MI:0915”(physical association)	0.560
VSTM1	FBXO2	psi-mi:“MI:0915”(physical association)	0.560
VASN	AP3B1	psi-mi:“MI:0914”(association)	0.530
SERPINA5	ZZEF1	psi-mi:“MI:0914”(association)	0.530
ADAM33	LRP5	psi-mi:“MI:0914”(association)	0.530
ST6GALNAC5	FBP1	psi-mi:“MI:0914”(association)	0.530
ERO1B	ATP4A	psi-mi:“MI:0914”(association)	0.530
AMIGO3	CANX	psi-mi:“MI:0914”(association)	0.530
GDF9	MYH11	psi-mi:“MI:0914”(association)	0.530
RNASET2	PDIA5	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
CHST10	B4GAT1	psi-mi:“MI:0914”(association)	0.530
CBLN4	C1QL1	psi-mi:“MI:0914”(association)	0.530
PLOD3	COL4A1	psi-mi:“MI:0914”(association)	0.530
OPCML	CANX	psi-mi:“MI:0914”(association)	0.530

BioGRID (491): FBXO2 (Reconstituted Complex), FBXO2 (Two-hybrid), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Two-hybrid), SERPINA1 (Affinity Capture-Western), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS)

ESM2 similar proteins: A5PK74, A9JRD8, D3YY23, D3ZBP4, D3ZU57, O08644, O15197, O95382, P0C0K6, P0C0K7, P0C7A1, P0DPD7, P10937, P10938, P11086, P17105, P23677, P40935, P52824, Q00653, Q01841, Q17QK6, Q1L5Z9, Q568P9, Q5E9L5, Q5JZY3, Q5ZMM1, Q6AY27, Q6DIA9, Q6NZB1, Q80UW2, Q8BX80, Q8BYG9, Q8K2J9, Q8NFI3, Q8R071, Q8TDZ2, Q8VDP3, Q96CM4, Q96EF6

Diamond homologs: G3X9C2, Q17QK6, Q3SX24, Q568V3, Q6AY27, Q6DIA9, Q6ZVX7, Q80UW2, Q8NI29, Q923V4, Q96EF6, Q9H4M3, Q9N0C8, Q9NRD1, Q9QZM8, Q9UK22, Q8BK26, Q9QZN4

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
FBXO2	“down-regulates quantity by destabilization”	PIK3R2	binding
FBXO2	“up-regulates activity”	“Cullin 1-RBX1-Skp1”	binding
FBXO2	“down-regulates quantity by destabilization”	BACE1	binding
FBXO2	“up-regulates activity”	STUB1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1071 predictions. Top by Δscore:

Variant	Effect	Δscore
1:11648826:GATCT:G	acceptor_loss	1.0000
1:11648827:ATC:A	acceptor_loss	1.0000
1:11648828:TCTG:T	acceptor_loss	1.0000
1:11648829:C:CA	acceptor_loss	1.0000
1:11648829:C:CC	acceptor_gain	1.0000
1:11649083:TCA:T	donor_loss	1.0000
1:11649084:CACC:C	donor_loss	1.0000
1:11649085:ACCT:A	donor_gain	1.0000
1:11649086:CCTC:C	donor_gain	1.0000
1:11649123:TGC:T	donor_gain	1.0000
1:11649226:C:CA	acceptor_loss	1.0000
1:11649227:T:G	acceptor_loss	1.0000
1:11649943:A:AC	donor_gain	1.0000
1:11649944:C:CA	donor_gain	1.0000
1:11649944:CT:C	donor_gain	1.0000
1:11649947:A:AC	donor_gain	1.0000
1:11649948:A:C	donor_gain	1.0000
1:11649964:A:AC	donor_gain	1.0000
1:11649965:C:CC	donor_gain	1.0000
1:11649965:CTT:C	donor_gain	1.0000
1:11649967:T:TA	donor_gain	1.0000
1:11649967:TCTTG:T	donor_gain	1.0000
1:11650070:GTCCT:G	acceptor_gain	1.0000
1:11650073:CT:C	acceptor_gain	1.0000
1:11650075:C:CC	acceptor_gain	1.0000
1:11650461:CTCAC:C	donor_loss	1.0000
1:11650462:TCAC:T	donor_loss	1.0000
1:11650463:CACC:C	donor_loss	1.0000
1:11650465:C:T	donor_loss	1.0000
1:11650468:T:A	donor_gain	1.0000

AlphaMissense

1937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:11648715:G:C	S290R	0.999
1:11648715:G:T	S290R	0.999
1:11648717:T:G	S290R	0.999
1:11648785:A:T	V267D	0.999
1:11649794:A:T	I201N	0.999
1:11650030:A:G	W146R	0.999
1:11650030:A:T	W146R	0.999
1:11650060:A:G	W136R	0.999
1:11650060:A:T	W136R	0.999
1:11650625:A:G	W78R	0.999
1:11650625:A:T	W78R	0.999
1:11648734:C:T	G284E	0.998
1:11648736:G:C	F283L	0.998
1:11648736:G:T	F283L	0.998
1:11648738:A:G	F283L	0.998
1:11648815:A:G	F257S	0.998
1:11649862:T:A	K178N	0.998
1:11649862:T:G	K178N	0.998
1:11649947:A:C	F173L	0.998
1:11649947:A:T	F173L	0.998
1:11649949:A:G	F173L	0.998
1:11650028:C:A	W146C	0.998
1:11650028:C:G	W146C	0.998
1:11650058:C:A	W136C	0.998
1:11650058:C:G	W136C	0.998
1:11650595:A:G	W88R	0.998
1:11650595:A:T	W88R	0.998
1:11650623:C:A	W78C	0.998
1:11650623:C:G	W78C	0.998
1:11648735:C:A	G284W	0.997

dbSNP variants (sampled 300 via entrez): RS1000975714 (1:11648060 T>TG), RS1001006791 (1:11648240 C>T), RS1001074408 (1:11656176 T>A), RS1001165716 (1:11653494 A>T), RS1001500822 (1:11650522 T>C), RS1002202050 (1:11655771 G>A), RS1002231126 (1:11647961 G>A,T), RS1002303826 (1:11652748 G>C), RS1002378695 (1:11655587 G>T), RS1002676847 (1:11650241 G>A,T), RS1003165609 (1:11654142 G>A), RS1003208461 (1:11654965 A>G), RS1003316936 (1:11648916 C>A,T), RS1003385444 (1:11653929 A>C), RS1003676942 (1:11649175 A>G)

Disease associations

OMIM: gene MIM:607112 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	9
Benzo(a)pyrene	increases methylation, increases expression	4
Tetrachlorodibenzodioxin	increases expression, affects expression	4
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	3
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Smoke	decreases expression, increases abundance	2
Cyclosporine	decreases expression, increases expression	2
GSK-J4	decreases expression	1
afuresertib	increases expression	1
dicrotophos	decreases expression	1
propionaldehyde	increases expression	1
deoxynivalenol	decreases expression	1
trichostatin A	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
cupric chloride	decreases expression	1
nivalenol	decreases expression	1
isobutyl alcohol	increases expression, affects cotreatment, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases expression, increases secretion	1
ICG 001	increases expression	1
abrine	decreases expression	1
ON 01910	affects expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1

Clinical trials (associated diseases)

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