FBXW5

Summary

FBXW5 (F-box and WD repeat domain containing 5, HGNC:13613) is a protein-coding gene on chromosome 9q34.3, encoding F-box/WD repeat-containing protein 5 (Q969U6). Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes.

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented.

Source: NCBI Gene 54461 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 185 total
• MANE Select transcript: NM_018998

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13613
Approved symbol	FBXW5
Name	F-box and WD repeat domain containing 5
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434B205, MGC20962, Fbw5
Ensembl gene	ENSG00000159069
Ensembl biotype	protein_coding
OMIM	609072
Entrez	54461

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 27 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000325285, ENST00000428398, ENST00000443788, ENST00000459905, ENST00000480818, ENST00000483559, ENST00000487794, ENST00000491246, ENST00000858260, ENST00000858261, ENST00000858262, ENST00000858263, ENST00000858264, ENST00000858265, ENST00000858266, ENST00000858267, ENST00000858268, ENST00000858269, ENST00000940104, ENST00000940105, ENST00000940106, ENST00000940107, ENST00000940108, ENST00000970223, ENST00000970224, ENST00000970225, ENST00000970226, ENST00000970227, ENST00000970228, ENST00000970229, ENST00000970230, ENST00000970231

RefSeq mRNA: 1 — MANE Select: NM_018998 NM_018998

CCDS: CCDS7014

Canonical transcript exons

ENST00000325285 — 9 exons

Exon	Start	End
ENSE00001228505	136942046	136942466
ENSE00001851335	136944594	136944738
ENSE00003463107	136942547	136942695
ENSE00003524700	136941251	136941463
ENSE00003530463	136941537	136941684
ENSE00003558379	136943349	136943506
ENSE00003559347	136940435	136941171
ENSE00003616695	136943891	136944106
ENSE00003642833	136942769	136942943

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 99.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8786 / max 312.3710, expressed in 1811 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103239	12.8175	1801
103241	2.6105	1334
103238	2.2389	1299
103240	0.9791	618
103235	0.1390	30
103236	0.0714	12
103237	0.0222	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.38	gold quality
left testis	UBERON:0004533	99.37	gold quality
apex of heart	UBERON:0002098	98.60	gold quality
popliteal artery	UBERON:0002250	98.36	gold quality
tibial artery	UBERON:0007610	98.35	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.34	gold quality
gastrocnemius	UBERON:0001388	98.21	gold quality
lower esophagus mucosa	UBERON:0035834	98.19	gold quality
granulocyte	CL:0000094	98.14	gold quality
right lobe of liver	UBERON:0001114	97.71	gold quality
lower esophagus	UBERON:0013473	97.71	gold quality
aorta	UBERON:0000947	97.70	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.70	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.56	gold quality
muscle of leg	UBERON:0001383	97.45	gold quality
right coronary artery	UBERON:0001625	97.42	gold quality
mucosa of transverse colon	UBERON:0004991	97.38	gold quality
left coronary artery	UBERON:0001626	97.31	gold quality
transverse colon	UBERON:0001157	97.21	gold quality
right atrium auricular region	UBERON:0006631	97.19	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.19	gold quality
thoracic aorta	UBERON:0001515	97.13	gold quality
ascending aorta	UBERON:0001496	97.12	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.04	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.97	gold quality
heart left ventricle	UBERON:0002084	96.92	gold quality
descending thoracic aorta	UBERON:0002345	96.91	gold quality
body of stomach	UBERON:0001161	96.88	gold quality
right frontal lobe	UBERON:0002810	96.87	gold quality
testis	UBERON:0000473	96.78	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)

19 targeting FBXW5, 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-6867-5P	100.00	82.21	3464
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-6787-5P	97.54	63.85	457
HSA-MIR-5189-3P	97.52	66.33	487
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-6501-5P	97.41	68.24	712
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-6775-3P	95.76	65.91	982
HSA-MIR-10396B-5P	94.99	63.57	358
HSA-MIR-1908-5P	94.99	63.41	352
HSA-MIR-663A	94.99	63.54	378
HSA-MIR-10396A-3P	93.99	62.06	94
HSA-MIR-10396B-3P	93.99	62.06	94

Literature-anchored findings (GeneRIF, showing 9)

• Results indicate that FBW5-DDB1-CUL4-ROC1 is an E3 ubiquitin ligase regulating TSC2 protein stability and TSC complex turnover. (PMID:18381890)
• These results suggest that FBXW5 negatively regulates TAK1 in the IL-1beta signaling pathway. (PMID:19232515)
• FBXW5 levels are controlled by the anaphase-promoting (APC/C) complex, which targets FBXW5 for degradation during mitosis and G1, thereby helping to reset the centrosome duplication machinery. (PMID:21725316)
• Fbxw5 enhances sumoylation of nuclear c-Myb (PMID:22910413)
• Identify Fbxw5-driven fluctuation of Eps8 levels as an important mechanism that contributes to cell-shape changes during entry into-and exit from-mitosis. (PMID:23314863)
• DLC1 was ubiquitinated and degraded by cullin 4A-RING ubiquitin ligase (CRL4A) complex interaction with DDB1 and the FBXW5 substrate receptor. (PMID:24082123)
• oxidative stress induces Tnfaip8 l1/Oxi-beta, which results in increased autophagy by its exclusive binding with FBXW5 to stabilize TSC2 (PMID:24444419)
• Here, the authors show that the F-box protein FBXW5 targets SEC23B, a component of COPII, for proteasomal degradation and that this event limits the autophagic flux in the presence of nutrients. In response to starvation, ULK1 phosphorylates SEC23B on Serine 186, preventing the interaction of SEC23B with FBXW5 and, therefore, inhibiting SEC23B degradation. (PMID:30596474)
• SCF(Fbxw5) targets kinesin-13 proteins to facilitate ciliogenesis. (PMID:34368969)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxw5	ENSDARG00000099139
mus_musculus	Fbxw5	ENSMUSG00000015095
rattus_norvegicus	Fbxw5	ENSRNOG00000028674
drosophila_melanogaster	Fbw5	FBGN0031773

Paralogs (1): FBXO15 (ENSG00000141665)

Protein

Protein identifiers

F-box/WD repeat-containing protein 5 — Q969U6 (reviewed: Q969U6)

Alternative names: F-box and WD-40 domain-containing protein 5

All UniProt accessions (5): Q969U6, A0A096LNM2, A0A096LP04, A0A0A0MSK7, A0A0A0MSV8

UniProt curated annotations — full annotation on UniProt →

Function. Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin-protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway.

Subunit / interactions. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXW5) composed of CUL1, SKP1, RBX1 and FBXW5. Component of the DCX(FBXW5) E3 ubiquitin ligase complex, at least composed of (CUL4A or CUL4B), DDB1, FBXW5 and RBX1. Interacts with CDC20, EPS8, TSC1, TSC2 and SASS6. Interacts with TNFAIP8L1; TNFAIP8L1 competes with TSC2 to bind FBXW5 increasing TSC2 stability by preventing its ubiquitination.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylated at Ser-151 by PLK4 during the G1/S transition, leading to inhibit its ability to ubiquitinate SASS6. Ubiquitinated and degraded by the APC/C complex during mitosis and G1 phase.

Domain organisation. The F-box domain mediates interaction with components of SCF (SKP1-CUL1-F-box protein) complexes, while WD repeats mediate interaction with components of DCX (DDB1-CUL4-X-box) complexes. The D-box (destruction box) mediate the interaction with APC proteins, and acts as a recognition signal for degradation via the ubiquitin-proteasome pathway.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the FBXW5 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q969U6-1	1	yes
Q969U6-2	2

RefSeq proteins (1): NP_061871* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR001810	F-box_dom	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR042508	FBXW5	Family

Pfam: PF00400, PF12937

UniProt features (18 total): repeat 7, modified residue 2, splice variant 2, sequence conflict 2, chain 1, domain 1, sequence variant 1, mutagenesis site 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969U6-F1	84.64	0.63

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): 151, 284

Mutagenesis-validated functional residues (1):

Position	Phenotype
151	impairs phosphorylation by plk4 and enhances ubiquitination of sass6.

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: 105 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_NUCLEAR_DIVISION, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CAGCAGG_MIR370, GOBP_ORGANELLE_FISSION, GOBP_CILIUM_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_ORGANELLE_ASSEMBLY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_MITOTIC_CELL_CYCLE

GO Biological Process (6): regulation of mitotic nuclear division (GO:0007088), regulation of centrosome duplication (GO:0010824), protein ubiquitination (GO:0016567), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), regulation of cell cycle process (GO:0010564)

GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)

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
cellular anatomical structure	2
cullin-RING ubiquitin ligase complex	2
regulation of mitotic cell cycle	1
regulation of cell cycle process	1
regulation of nuclear division	1
mitotic nuclear division	1
regulation of centrosome cycle	1
centrosome duplication	1
protein modification by small protein conjugation	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cell cycle process	1
regulation of cell cycle	1
kinase binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1038 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXW5	DDB1	Q16531	976
FBXW5	CUL4A	Q13619	887
FBXW5	TSC2	P49815	806
FBXW5	CUL1	Q13616	745
FBXW5	SKP1	P34991	728
FBXW5	RBX1	P62877	688
FBXW5	SASS6	Q6UVJ0	677
FBXW5	FBXW9	Q5XUX1	634
FBXW5	SEC23B	Q15437	608
FBXW5	PLK4	O00444	606
FBXW5	FBXW4	P57775	598
FBXW5	TSC1	Q92574	594
FBXW5	FBXW2	Q9UKT8	556
FBXW5	FBXW8	Q8N3Y1	552
FBXW5	ANAPC2	Q9UJX6	499

IntAct

147 interactions, top by confidence:

A	B	Type	Score
SEC23B	SEC24D	psi-mi:“MI:0914”(association)	0.920
SKP1	FBXW5	psi-mi:“MI:0915”(physical association)	0.860
FBXW5	SKP1	psi-mi:“MI:0915”(physical association)	0.860
WDR20	USP12	psi-mi:“MI:0914”(association)	0.800
TRIM27	FBXW5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	FBXW5	psi-mi:“MI:0915”(physical association)	0.720
KRT31	FBXW5	psi-mi:“MI:0915”(physical association)	0.720
FBXW5	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.720
FBXW5	TRIM27	psi-mi:“MI:0915”(physical association)	0.720
FBXW5	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
FBXW5	KRT31	psi-mi:“MI:0915”(physical association)	0.720
ADAMTSL4	FBXW5	psi-mi:“MI:0915”(physical association)	0.720
WDR20	PHLPP1	psi-mi:“MI:0914”(association)	0.670
WDR20	YWHAH	psi-mi:“MI:0914”(association)	0.640
SRFBP1	DDX10	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
CUL1	FBXO21	psi-mi:“MI:0914”(association)	0.600
FBXW5		psi-mi:“MI:0915”(physical association)	0.560
KRT40	FBXW5	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	FBXW5	psi-mi:“MI:0915”(physical association)	0.560
KRTAP9-4	FBXW5	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (761): CUL1 (Affinity Capture-Western), FBXW5 (Two-hybrid), FBXW5 (Two-hybrid), ADAMTSL4 (Two-hybrid), KRTAP9-4 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), FBXW5 (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), KRTAP4-12 (Two-hybrid), FBXW5 (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), FBXW5 (Two-hybrid)

ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7

Diamond homologs: A1CUD6, A2AH22, A7TLU2, A8IZG4, A8X8C6, B0R0D7, B0XAF3, B4GDM7, B4JW81, B4LJT7, E7FAG6, F1LTR1, G0SA60, G0SC29, O13046, O13923, O22468, O75717, O76071, O93377, O94527, P0CS38, P0CS39, P0DPA1, P25382, P25569, P26309, P57737, Q06440, Q08E38, Q09028, Q16576, Q1DZQ0, Q24572, Q28D01, Q28DW0, Q292E8, Q3MHL3, Q3SWX8, Q4KLI9

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
FBXW5	“down-regulates quantity by destabilization”	SEC23B	ubiquitination
PLK4	“down-regulates activity”	FBXW5	phosphorylation
APC-c	“down-regulates quantity by destabilization”	FBXW5	ubiquitination
FBXW5	“down-regulates quantity by destabilization”	SASS6	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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
Keratinization	12	10.0×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein K48-linked ubiquitination	6	12.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	160
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1557 predictions. Top by Δscore:

Variant	Effect	Δscore
9:136941264:C:A	donor_gain	1.0000
9:136941275:T:TA	donor_gain	1.0000
9:136941685:C:CC	acceptor_gain	1.0000
9:136942045:CCGAT:C	donor_gain	1.0000
9:136942049:T:C	donor_gain	1.0000
9:136942279:T:TA	donor_gain	1.0000
9:136942542:CGCA:C	donor_loss	1.0000
9:136942543:GCACC:G	donor_loss	1.0000
9:136942544:CACC:C	donor_loss	1.0000
9:136942696:C:CC	acceptor_gain	1.0000
9:136942939:CAGAT:C	acceptor_gain	1.0000
9:136943347:ACCT:A	donor_loss	1.0000
9:136943502:GGCCG:G	acceptor_gain	1.0000
9:136943504:CCG:C	acceptor_gain	1.0000
9:136943505:CG:C	acceptor_gain	1.0000
9:136943505:CGC:C	acceptor_gain	1.0000
9:136943507:C:CC	acceptor_gain	1.0000
9:136943887:TGAC:T	donor_loss	1.0000
9:136943888:GAC:G	donor_loss	1.0000
9:136943889:ACCT:A	donor_loss	1.0000
9:136941167:CCCCG:C	acceptor_gain	0.9900
9:136941168:CCCG:C	acceptor_gain	0.9900
9:136941168:CCCGC:C	acceptor_gain	0.9900
9:136941169:CCG:C	acceptor_gain	0.9900
9:136941169:CCGC:C	acceptor_gain	0.9900
9:136941170:CG:C	acceptor_gain	0.9900
9:136941170:CGC:C	acceptor_gain	0.9900
9:136941172:C:CC	acceptor_gain	0.9900
9:136941261:AGTC:A	donor_gain	0.9900
9:136941460:GTAC:G	acceptor_loss	0.9900

AlphaMissense

3706 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136941458:A:G	L417P	1.000
9:136942620:A:G	L201P	1.000
9:136942639:A:G	W195R	1.000
9:136942639:A:T	W195R	1.000
9:136942883:A:G	W138R	1.000
9:136942883:A:T	W138R	1.000
9:136941091:A:T	V513D	0.999
9:136941143:A:G	W496R	0.999
9:136941143:A:T	W496R	0.999
9:136941170:C:A	G487W	0.999
9:136941456:A:C	Y418D	0.999
9:136941562:C:G	G407R	0.999
9:136942563:A:G	L220P	0.999
9:136942567:A:G	W219R	0.999
9:136942567:A:T	W219R	0.999
9:136942637:C:A	W195C	0.999
9:136942637:C:G	W195C	0.999
9:136942644:C:T	G193D	0.999
9:136942645:C:G	G193R	0.999
9:136942780:A:T	V172D	0.999
9:136942783:G:T	A171D	0.999
9:136942792:C:T	G168D	0.999
9:136942825:C:T	G157E	0.999
9:136942826:C:A	G157W	0.999
9:136942834:A:G	L154P	0.999
9:136942837:A:G	L153P	0.999
9:136942858:A:G	F146S	0.999
9:136942881:C:A	W138C	0.999
9:136942881:C:G	W138C	0.999
9:136943368:G:A	S111F	0.999

dbSNP variants (sampled 300 via entrez): RS1000019177 (9:136941658 T>C,G), RS1000096153 (9:136944601 G>A), RS1000297928 (9:136940594 A>G,T), RS1000391706 (9:136940491 A>C,G), RS1000862310 (9:136943052 C>T), RS1001147315 (9:136943759 C>A,G), RS1001178432 (9:136943836 A>G,T), RS1001268439 (9:136944754 G>C,T), RS1001896979 (9:136943263 A>C,T), RS1002126296 (9:136940056 G>A), RS1002303627 (9:136945307 C>A), RS1002827378 (9:136943113 A>G), RS1002930194 (9:136945990 C>A,G,T), RS1002945387 (9:136943812 C>G), RS1003159558 (9:136940647 C>T)

Disease associations

OMIM: gene MIM:609072 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006979_557	Heel bone mineral density	6.000000e-09
GCST90002400_695	Plateletcrit	4.000000e-11
GCST90013442_14	Keratoconus	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	3
FR900359	decreases phosphorylation	1
bisphenol F	increases expression, affects cotreatment	1
bisphenol A	affects cotreatment, increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
(+)-JQ1 compound	increases expression	1
MT19c compound	decreases expression	1
Irinotecan	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Bucladesine	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Medroxyprogesterone Acetate	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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