FBXO45

Summary

FBXO45 (F-box protein 45, HGNC:29148) is a protein-coding gene on chromosome 3q29, encoding F-box/SPRY domain-containing protein 1 (P0C2W1). Component of E3 ubiquitin ligase complex consisting of FBXO45, MYCBP2 and SKP1.

Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).

Source: NCBI Gene 200933 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_001105573

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29148
Approved symbol	FBXO45
Name	F-box protein 45
Location	3q29
Locus type	gene with protein product
Status	Approved
Aliases	Fbx45
Ensembl gene	ENSG00000174013
Ensembl biotype	protein_coding
OMIM	609112
Entrez	200933

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000311630, ENST00000440469

RefSeq mRNA: 1 — MANE Select: NM_001105573 NM_001105573

CCDS: CCDS46985

Canonical transcript exons

ENST00000311630 — 3 exons

Exon	Start	End
ENSE00001189600	196584133	196589059
ENSE00001304231	196568660	196569302
ENSE00003563735	196577453	196577809

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 99.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9230 / max 193.3725, expressed in 1777 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40729	9.6739	1753
40730	2.2491	1179

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.55	gold quality
oocyte	CL:0000023	97.65	gold quality
upper arm skin	UBERON:0004263	96.39	gold quality
penis	UBERON:0000989	93.80	gold quality
medial globus pallidus	UBERON:0002477	92.86	gold quality
globus pallidus	UBERON:0001875	92.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.68	gold quality
esophagus squamous epithelium	UBERON:0006920	91.51	gold quality
lateral globus pallidus	UBERON:0002476	91.18	gold quality
cortical plate	UBERON:0005343	90.99	gold quality
sperm	CL:0000019	90.90	gold quality
palpebral conjunctiva	UBERON:0001812	90.63	gold quality
postcentral gyrus	UBERON:0002581	90.54	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.44	gold quality
parietal lobe	UBERON:0001872	90.17	gold quality
nipple	UBERON:0002030	90.05	gold quality
amniotic fluid	UBERON:0000173	90.04	gold quality
inferior vagus X ganglion	UBERON:0005363	89.56	gold quality
gingival epithelium	UBERON:0001949	89.25	gold quality
superior frontal gyrus	UBERON:0002661	89.18	gold quality
gingiva	UBERON:0001828	89.13	gold quality
mammalian vulva	UBERON:0000997	89.00	gold quality
visceral pleura	UBERON:0002401	88.82	gold quality
deltoid	UBERON:0001476	88.71	gold quality
tibialis anterior	UBERON:0001385	88.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.38	gold quality
entorhinal cortex	UBERON:0002728	88.31	gold quality
middle temporal gyrus	UBERON:0002771	88.23	gold quality
pons	UBERON:0000988	88.22	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	88.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

285 targeting FBXO45, 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-3925-3P	100.00	69.95	1237
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883

Literature-anchored findings (GeneRIF, showing 17)

• FBXO45 gene consisting of 3 exons, and the vicinity of the transcriptional start site had several estrogen receptor binding consensus sequences. (PMID:16012741)
• FBXO45 promotes the proteasome-dependent degradation of p73. (PMID:19581926)
• Study found that the R108C mutation in FBXO45 is a rare variant with a modest effect on schizophrenia risk that may disrupt the structure and function of the FBXO45 protein (PMID:24878430)
• Fbxo45 is the substrate-receptor subunit of a functional E3 ligase for Par-4 that has a critical role in cancer cell survival. (PMID:24992930)
• Data show that epithelial-mesenchymal transition (EMT)-transcription factors can be dynamically degraded by an atypical ubiquitin E3 ligase complex Skp1-Pam-Fbxo45 (SPFFbxo45). (PMID:25460509)
• Relatively low FBXO45 expression in gastric cancer tissues is associated with cancer progression and constitutes an independent prognostic factor (PMID:28011490)
• Genetic variations in FBXO45 are associated with emotional expression. (PMID:29665250)
• FBXO45 does not simply function in substrate recognition but is important for assembly of the PAM/FBXO45/SKP1 complex. (PMID:29997255)
• FBXO45-MYCBP2 regulates mitotic cell fate by targeting FBXW7 for degradation. (PMID:31285543)
• A SNP at the rs6583331 locus 3q29 is associated with the susceptibility of vitiligo in the Chinese Han population. The T allele of the locus within the FBXO45-NRROS gene (3q29) was significantly associated with vitiligo (odds ratio = 1.22, 95% confidence interval: 1.10-1.36, p = 0.0001). Association at the genotype level was strong (p = 0.0007). (PMID:31644309)
• DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1. (PMID:33966034)
• Elevated FBXO45 promotes liver tumorigenesis through enhancing IGF2BP1 ubiquitination and subsequent PLK1 upregulation. (PMID:34779401)
• MiR-30a-5p hampers proliferation of lung squamous cell carcinoma through targeting FBXO45. (PMID:35098525)
• Fbxo45 facilitates pancreatic carcinoma progression by targeting USP49 for ubiquitination and degradation. (PMID:35279684)
• Fbxo45-mediated NP-STEP46 degradation via K6-linked ubiquitination sustains ERK activity in lung cancer. (PMID:35838331)
• LncRNA MEG8 ameliorates Parkinson’s disease neuro-inflammation through miR-485-3p/FBXO45 axis. (PMID:37814093)
• Correlation of FBXO45 Expression Levels with Cancer Severity by ZEB1 Ubiquitin in Non-Small-Cell Lung Cancer. (PMID:39016138)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxo45	ENSDARG00000071492
mus_musculus	Fbxo45	ENSMUSG00000035764
rattus_norvegicus	Fbxo45	ENSRNOG00000067589
drosophila_melanogaster	Fsn	FBGN0043010
caenorhabditis_elegans		WBGENE00001499

Paralogs (4): SPSB2 (ENSG00000111671), SPSB3 (ENSG00000162032), SPSB1 (ENSG00000171621), SPSB4 (ENSG00000175093)

Protein

Protein identifiers

F-box/SPRY domain-containing protein 1 — P0C2W1 (reviewed: P0C2W1)

Alternative names: F-box only protein 45

All UniProt accessions (2): P0C2W1, C9JLC0

UniProt curated annotations — full annotation on UniProt →

Function. Component of E3 ubiquitin ligase complex consisting of FBXO45, MYCBP2 and SKP1. Functions in substrate recognition but also plays an important role in assembly of the complex. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration. Regulates neuron migration during brain development through interaction with N-cadherin/CDH2 after secretion via a non-classical mechanism. Plays a role in the regulation of neurotransmission at mature neurons. May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway. Specifically recognizes TP73, promoting its ubiquitination and degradation. Polyubiquitinates NMNAT2, an adenylyltransferase that acts as an axon maintenance factor, and regulates its stability and degradation by the proteasome. Also acts by ubiquitinating FBXW7 during prolonged mitotic arrest and promotes FBXW7 proteasomal degradation. Induces subsequently an increase in mitotic slippage and prevents mitotic cell death. In response to influenza infection, mediates interferon-lambda receptor IFNLR1 polyubiquitination and degradation through the ubiquitin-proteasome system by docking with its intracellular receptor domain.

Subunit / interactions. Forms a complex with MYCBP2 and SKP1. Interacts with HEY1; leading to FBXO45 nuclear translocation. Interacts (via SPRY domain) with CDH2.

Subcellular location. Secreted. Postsynaptic cell membrane. Presynaptic cell membrane. Nucleus.

Induction. Down-regulated in response to DNA-damage. Induced upon influenza infection.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the FBXO45/Fsn family.

RefSeq proteins (1): NP_001099043* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR035784	SPRY_FBXO45	Domain
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050672	FBXO45-Fsn/SPSB_families	Family

Pfam: PF00622, PF12937

UniProt features (5 total): domain 2, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C2W1-F1	91.19	0.86

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 (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 271 (showing top): GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_SYNAPSE_ASSEMBLY, GOBP_GROWTH, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, KONG_E2F3_TARGETS, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, PATIL_LIVER_CANCER, GOBP_FOREBRAIN_CELL_MIGRATION

GO Biological Process (15): neuron migration (GO:0001764), ubiquitin-dependent protein catabolic process (GO:0006511), DNA damage response (GO:0006974), protein ubiquitination (GO:0016567), cerebral cortex radially oriented cell migration (GO:0021799), cerebral cortex tangential migration (GO:0021800), corticospinal tract morphogenesis (GO:0021957), anterior commissure morphogenesis (GO:0021960), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), synapse assembly involved in innervation (GO:0060386), protein K48-linked ubiquitination (GO:0070936), regulation of synaptic vesicle exocytosis (GO:2000300), nervous system development (GO:0007399), innervation (GO:0060384), axon development (GO:0061564)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (18): extracellular region (GO:0005576), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), SCF ubiquitin ligase complex (GO:0019005), presynaptic membrane (GO:0042734), synapse (GO:0045202), postsynaptic membrane (GO:0045211), glutamatergic synapse (GO:0098978), presynaptic cytosol (GO:0099523), postsynaptic cytosol (GO:0099524), nucleus (GO:0005634), membrane (GO:0016020), cell projection (GO:0042995), organelle (GO:0043226), presynapse (GO:0098793)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	8
cerebral cortex cell migration	2
central nervous system projection neuron axonogenesis	2
synaptic membrane	2
presynapse	2
postsynapse	2
synapse	2
cytosol	2
cell migration	1
generation of neurons	1
protein ubiquitination	1
modification-dependent protein catabolic process	1
cellular response to stress	1
protein modification by small protein conjugation	1
telencephalon development	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
synapse assembly	1
innervation	1
protein polyubiquitination	1
synaptic vesicle exocytosis	1
regulation of neurotransmitter secretion	1
regulation of regulated secretory pathway	1
system development	1
nerve development	1
multicellular organismal process	1
neuron projection development	1
enzyme-substrate adaptor activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
asymmetric synapse	1
postsynaptic specialization	1
cullin-RING ubiquitin ligase complex	1
cell junction	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

760 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXO45	SKP1	P34991	995
FBXO45	MYCBP2	O75592	989
FBXO45	UNC13A	Q9UPW8	858
FBXO45	CUL1	Q13616	754
FBXO45	SIAH1	Q8IUQ4	748
FBXO45	WDR53	Q7Z5U6	727
FBXO45	MPP3	Q13368	719
FBXO45	DLG3	Q92796	716
FBXO45	UNC13B	O14795	710
FBXO45	FBXO11	Q86XK2	647
FBXO45	FBXL14	Q8N1E6	627
FBXO45	ZEB1	P37275	621
FBXO45	RBX1	P62877	606
FBXO45	ZDHHC19	Q8WVZ1	595
FBXO45	UBXN7	O94888	593

IntAct

75 interactions, top by confidence:

A	B	Type	Score
YWHAH	FAM83G	psi-mi:“MI:0914”(association)	0.710
VCP	UBXN8	psi-mi:“MI:0914”(association)	0.690
FBXW7	MYCBP2	psi-mi:“MI:0914”(association)	0.640
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PLK1	C1orf226	psi-mi:“MI:0914”(association)	0.560
LGALS3BP	RGPD8	psi-mi:“MI:0914”(association)	0.530
STAT2	INPPL1	psi-mi:“MI:0914”(association)	0.530
GDF10	LRP4	psi-mi:“MI:0914”(association)	0.530
IGFBP4	MYCBP2	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
EPHB2	MYCBP2	psi-mi:“MI:0914”(association)	0.530
POGLUT1	CLGN	psi-mi:“MI:0914”(association)	0.530
INSL6	MYCBP2	psi-mi:“MI:0914”(association)	0.530
IGFBP4	CETN3	psi-mi:“MI:0914”(association)	0.530
IL25	PPM1B	psi-mi:“MI:0914”(association)	0.530
Skp1	XPO1	psi-mi:“MI:0914”(association)	0.350
LGALS3BP	CEP290	psi-mi:“MI:0914”(association)	0.350
Lgals3bp	CS	psi-mi:“MI:0914”(association)	0.350
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.350
FBXW7	MYCBP2	psi-mi:“MI:0914”(association)	0.350
	TADA2A	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
USP11	PRRC2B	psi-mi:“MI:0914”(association)	0.350
rep	MYCBP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (153): CDH2 (Affinity Capture-MS), SKP1 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), CTNNB1 (Affinity Capture-MS), CDH2 (Affinity Capture-Western), SKP1 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western), MYCBP2 (Affinity Capture-Western), FBXO45 (Affinity Capture-Western), FBXO45 (Affinity Capture-Western), FBXO45 (Affinity Capture-MS), FBXO45 (Affinity Capture-MS), FBXO45 (Affinity Capture-MS), FBXO45 (Affinity Capture-MS), FBXO45 (Affinity Capture-MS)

ESM2 similar proteins: A1Z6E0, A2BHJ4, A8IU92, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, P00860, P0C2W1, P0CH38, P11926, P27117, P27119, P27120, P48455, P53041, P53042, Q0G819, Q16XV7, Q290L5, Q5BJ41, Q5E9X6, Q5VST6, Q5XH73, Q60676, Q68FK8, Q6AXU9, Q6AY17, Q6IR85, Q6NZ03, Q7M759, Q7QGL9

Diamond homologs: A1Z6E0, A8QGZ7, A8XT88, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, O88838, P0C2W1, P0CH38, Q16XV7, Q18223, Q28DT9, Q290L5, Q5E9X6, Q5M877, Q6NZ03, Q7QGL9, Q7ZXY1, Q8K3B1, Q8R5B6, Q96A44, Q96BD6, Q99619, Q9D5L7, Q9V6L9, Q3ZBA7, Q8N3Y1, Q3MHZ2, Q571F5, Q6PJ21, Q3SX45

SIGNOR signaling

9 interactions.

A	Effect	B	Mechanism
FBXO45	“down-regulates quantity by destabilization”	TP73	binding
FBXO45	“up-regulates activity”	“Cullin 1-RBX1-Skp1”	binding
FBXO45	“down-regulates quantity by destabilization”	ZEB1	binding
FBXO45	“down-regulates quantity by destabilization”	ZEB2	binding
FBXO45	“down-regulates quantity by destabilization”	SNAI1	binding
FBXO45	“down-regulates quantity by destabilization”	SNAI2	binding
FBXO45	“down-regulates quantity by destabilization”	TWIST1	binding
FBXO45	“down-regulates quantity by destabilization”	PAWR	binding
FBXO45	“up-regulates activity”	“Skp1-Pam E3”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 98 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
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	11.9×	7e-03
Regulation of PLK1 Activity at G2/M Transition	5	9.8×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

710 predictions. Top by Δscore:

Variant	Effect	Δscore
3:196577443:A:AG	acceptor_gain	1.0000
3:196577444:T:G	acceptor_gain	1.0000
3:196577450:TA:T	acceptor_loss	1.0000
3:196577451:A:AG	acceptor_gain	1.0000
3:196577452:G:GT	acceptor_gain	1.0000
3:196577452:GA:G	acceptor_gain	1.0000
3:196577452:GAT:G	acceptor_gain	1.0000
3:196577452:GATA:G	acceptor_gain	1.0000
3:196577452:GATAC:G	acceptor_gain	1.0000
3:196577586:G:GG	donor_gain	1.0000
3:196577809:GGTG:G	donor_loss	1.0000
3:196577810:GTGA:G	donor_loss	1.0000
3:196584132:GATA:G	acceptor_gain	1.0000
3:196569298:CCAAG:C	donor_loss	0.9900
3:196569299:CAAG:C	donor_loss	0.9900
3:196569300:AAG:A	donor_loss	0.9900
3:196569301:AGG:A	donor_loss	0.9900
3:196569302:GGTGA:G	donor_loss	0.9900
3:196569303:G:GC	donor_loss	0.9900
3:196569304:T:A	donor_loss	0.9900
3:196577563:TGC:T	donor_gain	0.9900
3:196577606:G:GT	donor_gain	0.9900
3:196577606:G:T	donor_gain	0.9900
3:196579474:G:GG	donor_gain	0.9900
3:196584127:TTGCA:T	acceptor_loss	0.9900
3:196584129:GCAG:G	acceptor_loss	0.9900
3:196584131:A:AG	acceptor_gain	0.9900
3:196584131:A:C	acceptor_loss	0.9900
3:196584132:G:GG	acceptor_gain	0.9900
3:196584132:G:GT	acceptor_loss	0.9900

AlphaMissense

1844 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:196569219:T:A	W79R	1.000
3:196569219:T:C	W79R	1.000
3:196577493:C:A	S120Y	1.000
3:196577493:C:T	S120F	1.000
3:196577500:T:A	N122K	1.000
3:196577500:T:G	N122K	1.000
3:196577531:C:A	H133N	1.000
3:196577531:C:G	H133D	1.000
3:196577534:C:G	R134G	1.000
3:196577535:G:A	R134Q	1.000
3:196577535:G:C	R134P	1.000
3:196577535:G:T	R134L	1.000
3:196577540:C:T	P136S	1.000
3:196577541:C:A	P136H	1.000
3:196577547:C:A	A138D	1.000
3:196577550:A:C	Q139P	1.000
3:196577551:G:C	Q139H	1.000
3:196577551:G:T	Q139H	1.000
3:196577552:A:C	S140R	1.000
3:196577554:C:A	S140R	1.000
3:196577554:C:G	S140R	1.000
3:196577556:C:A	T141N	1.000
3:196577556:C:T	T141I	1.000
3:196577558:G:A	D142N	1.000
3:196577558:G:C	D142H	1.000
3:196577558:G:T	D142Y	1.000
3:196577559:A:C	D142A	1.000
3:196577559:A:G	D142G	1.000
3:196577559:A:T	D142V	1.000
3:196577560:T:A	D142E	1.000

dbSNP variants (sampled 300 via entrez): RS1000296141 (3:196572328 T>A), RS1000339568 (3:196566668 C>T), RS1000496381 (3:196571086 C>T), RS1000828530 (3:196576970 A>G,T), RS1000843650 (3:196583334 G>A), RS1000880689 (3:196577333 G>C,T), RS1000890121 (3:196571682 G>A,T), RS1001042664 (3:196583582 G>A), RS1001072604 (3:196577308 C>G,T), RS1001282668 (3:196583895 A>G), RS1001500992 (3:196580459 C>G), RS1001527021 (3:196576967 T>A), RS1001551854 (3:196580678 A>G), RS1001663167 (3:196570770 G>T), RS1001784251 (3:196568561 A>C)

Disease associations

OMIM: gene MIM:609112 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004785_12	Vitiligo	3.000000e-08
GCST005038_10	Allergic disease (asthma, hay fever or eczema)	2.000000e-12
GCST007798_62	Asthma	9.000000e-13
GCST009597_207	Multiple sclerosis	9.000000e-07
GCST009798_34	Asthma	4.000000e-12
GCST90014325_16	Asthma	5.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
propylparaben	increases expression	1
glycidyl methacrylate	decreases expression	1
lead acetate	increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
eprenetapopt	affects expression, affects reaction	1
jinfukang	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Arsenic	increases methylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Estradiol	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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