FBXO47

Summary

FBXO47 (F-box protein 47, HGNC:31969) is a protein-coding gene on chromosome 17q12, encoding F-box only protein 47 (Q5MNV8). Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_001008777

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31969
Approved symbol	FBXO47
Name	F-box protein 47
Location	17q12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204952
Ensembl biotype	protein_coding
OMIM	609498
Entrez	494188

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000378079

RefSeq mRNA: 1 — MANE Select: NM_001008777 NM_001008777

CCDS: CCDS32639

Canonical transcript exons

ENST00000378079 — 11 exons

Exon	Start	End
ENSE00001476185	38936432	38937290
ENSE00001476186	38938573	38938732
ENSE00001476187	38942778	38942920
ENSE00001476188	38943590	38943736
ENSE00001476189	38944960	38945136
ENSE00001476191	38951581	38951689
ENSE00001476194	38954856	38954933
ENSE00001476197	38957177	38957253
ENSE00001476200	38961877	38962047
ENSE00001476202	38962845	38963051
ENSE00001476204	38967229	38967403

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 86.69.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0672 / max 9.7873, expressed in 27 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165569	0.0672	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.69	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.38	gold quality
testis	UBERON:0000473	57.25	gold quality
right testis	UBERON:0004534	57.15	gold quality
left testis	UBERON:0004533	54.86	gold quality
granulocyte	CL:0000094	40.82	gold quality
stromal cell of endometrium	CL:0002255	39.00	gold quality
bone marrow cell	CL:0002092	38.20	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.52	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
sural nerve	UBERON:0015488	35.28	gold quality
gall bladder	UBERON:0002110	33.76	gold quality
leukocyte	CL:0000738	33.52	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
monocyte	CL:0000576	33.33	gold quality
bone marrow	UBERON:0002371	32.79	gold quality
lymph node	UBERON:0000029	32.69	gold quality
superior frontal gyrus	UBERON:0002661	32.36	gold quality
muscle tissue	UBERON:0002385	32.19	gold quality
prefrontal cortex	UBERON:0000451	31.99	gold quality
tonsil	UBERON:0002372	31.86	gold quality
primary visual cortex	UBERON:0002436	30.45	gold quality
urinary bladder	UBERON:0001255	29.87	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	29.73	gold quality
frontal cortex	UBERON:0001870	29.58	gold quality
endometrium	UBERON:0001295	29.06	gold quality
corpus callosum	UBERON:0002336	28.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting FBXO47, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1284	99.67	73.56	1353

Literature-anchored findings (GeneRIF, showing 2)

• FBXO47 is preferentially expressed in normal tissue relative to the corresponding tumor tissue, particularly in the kidney, liver, and pancreas. (PMID:15723337)
• A novel mechanism of FBXO47 in telomeric shelterin subunit stabilization during meiosis. (PMID:31724724)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fbxo47	ENSMUSG00000070336
rattus_norvegicus	Fbxo47	ENSRNOG00000036882

Protein

Protein identifiers

F-box only protein 47 — Q5MNV8 (reviewed: Q5MNV8)

All UniProt accessions (1): Q5MNV8

UniProt curated annotations — full annotation on UniProt →

Function. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.

Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) protein ligase complex.

Tissue specificity. Widely expressed, with highest levels in kidney, liver and pancreas. Down-regulated in tumors.

RefSeq proteins (1): NP_001008777* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR038946	FBXO47	Family
IPR056622	ARM_FBXO47	Domain

Pfam: PF00646, PF24467

UniProt features (4 total): sequence variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5MNV8-F1	87.21	0.78

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 32 (showing top): GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_SCF_UBIQUITIN_LIGASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_UBIQUITIN_LIGASE_COMPLEX, UBN1_TARGET_GENES, MIR6867_5P, MIR6809_3P, MIR1252_5P, MIR603, MIR3977

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

678 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXO47	ECT2L	Q008S8	587
FBXO47	TERF1	P54274	581
FBXO47	M1AP	Q8TC57	578
FBXO47	FBXO48	Q5FWF7	567
FBXO47	FBXO43	Q4G163	563
FBXO47	SKP1	P34991	557
FBXO47	CCNF	P41002	523
FBXO47	DYDC1	Q8WWB3	513
FBXO47	FOXL3	A0A1W2PRP0	507
FBXO47	ELOVL7	A1L3X0	506
FBXO47	HAUS8	Q9BT25	456
FBXO47	SHCBP1L	Q9BZQ2	456
FBXO47	FBXW7	Q969H0	454
FBXO47	GPR137C	Q8N3F9	453
FBXO47	TEX38	Q6PEX7	449

IntAct

0 interactions, top by confidence:

BioGRID (4): HORMAD1 (Affinity Capture-Western), FBXO47 (Affinity Capture-Western), FBXO47 (Cross-Linking-MS (XL-MS)), FBXO47 (Proximity Label-MS)

ESM2 similar proteins: A0JNG0, A2A6H3, A3EXA0, A5PJY4, B1WBM3, C9JQI7, O00237, O74447, P04135, P09175, P0CX12, P0CX13, P24412, P33464, P36034, P36299, P47187, P52924, P53053, P69603, P69604, P69605, P69606, P69607, Q07788, Q0Q4E7, Q197D8, Q1LUD1, Q4V7Q8, Q5HZQ9, Q5MNV8, Q5PQM0, Q5PQN2, Q5RD28, Q63HM2, Q6ZFZ4, Q7ZY86, Q8R079, Q8RVL1, Q8RVL2

Diamond homologs: A2A6H3, Q5MNV8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1775 predictions. Top by Δscore:

Variant	Effect	Δscore
17:38937304:A:C	acceptor_gain	1.0000
17:38942772:ACTT:A	donor_loss	1.0000
17:38942773:CT:C	donor_loss	1.0000
17:38942774:TT:T	donor_loss	1.0000
17:38942775:TA:T	donor_loss	1.0000
17:38942776:ACCA:A	donor_loss	1.0000
17:38942777:C:G	donor_loss	1.0000
17:38942848:C:CC	acceptor_gain	1.0000
17:38942919:CACT:C	acceptor_gain	1.0000
17:38942922:T:C	acceptor_gain	1.0000
17:38942924:T:TC	acceptor_gain	1.0000
17:38942927:T:TC	acceptor_gain	1.0000
17:38943584:TTTTA:T	donor_loss	1.0000
17:38943585:TTTA:T	donor_loss	1.0000
17:38943586:TTA:T	donor_loss	1.0000
17:38943587:TACC:T	donor_loss	1.0000
17:38943588:ACCTG:A	donor_loss	1.0000
17:38943589:C:A	donor_loss	1.0000
17:38943732:CTGTC:C	acceptor_gain	1.0000
17:38943735:TC:T	acceptor_gain	1.0000
17:38943736:CC:C	acceptor_gain	1.0000
17:38943742:T:TC	acceptor_gain	1.0000
17:38945133:CTTC:C	acceptor_gain	1.0000
17:38951575:TTTTA:T	donor_loss	1.0000
17:38951576:TTTA:T	donor_loss	1.0000
17:38951577:TTA:T	donor_loss	1.0000
17:38951578:TA:T	donor_loss	1.0000
17:38951579:A:T	donor_loss	1.0000
17:38951580:C:CT	donor_loss	1.0000
17:38951685:AAGGT:A	acceptor_gain	1.0000

AlphaMissense

2998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:38951674:A:G	W175R	0.999
17:38951674:A:T	W175R	0.999
17:38942906:A:G	W319R	0.997
17:38942906:A:T	W319R	0.997
17:38951672:C:A	W175C	0.997
17:38951672:C:G	W175C	0.997
17:38957240:T:A	K122N	0.997
17:38957240:T:G	K122N	0.997
17:38957241:T:A	K122I	0.995
17:38962025:G:C	S68R	0.994
17:38962025:G:T	S68R	0.994
17:38962027:T:G	S68R	0.994
17:38942831:C:G	A344P	0.992
17:38951673:C:G	W175S	0.991
17:38942904:C:A	W319C	0.990
17:38942904:C:G	W319C	0.990
17:38943595:A:G	L312P	0.990
17:38945047:A:G	W236R	0.990
17:38945047:A:T	W236R	0.990
17:38942830:G:T	A344D	0.989
17:38943632:A:G	W300R	0.989
17:38943632:A:T	W300R	0.989
17:38944980:C:T	G258E	0.989
17:38937237:C:G	A433P	0.988
17:38957207:C:A	R133S	0.988
17:38957207:C:G	R133S	0.988
17:38944995:A:G	L253P	0.987
17:38957241:T:G	K122T	0.987
17:38961877:C:G	G118R	0.987
17:38943725:A:G	W269R	0.986

dbSNP variants (sampled 300 via entrez): RS1000032577 (17:38960693 G>A,T), RS1000058289 (17:38941660 A>G), RS1000097458 (17:38962377 A>C), RS1000297715 (17:38941396 C>G,T), RS1000315983 (17:38955152 C>T), RS1000328881 (17:38955355 T>A), RS1000573363 (17:38957355 C>T), RS1000757634 (17:38967568 T>C,G), RS1000790160 (17:38967685 C>T), RS1000963084 (17:38962069 T>G), RS1000975037 (17:38968376 G>A), RS1001016241 (17:38942970 A>G), RS1001087258 (17:38936089 T>C), RS1001139772 (17:38963283 T>C), RS1001196713 (17:38949888 T>C)

Disease associations

OMIM: gene MIM:609498 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001762_301	Obesity-related traits	4.000000e-06
GCST003784_18	Multiple system atrophy	2.000000e-07
GCST90002400_212	Plateletcrit	5.000000e-10
GCST90002402_452	Platelet count	8.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0003940	physical activity
EFO:0007985	platelet crit
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lipopolysaccharides	affects response to substance, increases expression	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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