FBXW10B

Summary

FBXW10B (F-box and WD repeat domain containing 10B, HGNC:14379) is a protein-coding gene on chromosome 17p12, encoding F-box and WD repeat domain containing protein 10B (O95170).

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), 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 (Jin et al., 2004 [PubMed 15520277]).

Source: NCBI Gene 374286 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 16 total
• MANE Select transcript: NM_006382

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14379
Approved symbol	FBXW10B
Name	F-box and WD repeat domain containing 10B
Location	17p12
Locus type	gene with protein product
Status	Approved
Aliases	HREP, SM25H2
Ensembl gene	ENSG00000241322
Ensembl biotype	protein_coding
OMIM	604596
Entrez	374286

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000261644, ENST00000354433, ENST00000395667, ENST00000395906, ENST00000475944, ENST00000571263, ENST00000583965

RefSeq mRNA: 2 — MANE Select: NM_006382 NM_001282540, NM_006382

CCDS: CCDS45619, CCDS73996

Canonical transcript exons

ENST00000395906 — 12 exons

Exon	Start	End
ENSE00000000325	15619008	15619704
ENSE00001560217	15583886	15589227
ENSE00003802001	15594748	15594890
ENSE00003803561	15605223	15605423
ENSE00003804412	15615645	15615809
ENSE00003805508	15607574	15607683
ENSE00003806273	15613615	15613742
ENSE00003808211	15612701	15612823
ENSE00003808901	15596514	15596662
ENSE00003809154	15598532	15598653
ENSE00003809425	15613833	15614033
ENSE00003809726	15593337	15593495

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 88.00.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	88.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.05	gold quality
esophagus mucosa	UBERON:0002469	79.75	gold quality
left testis	UBERON:0004533	78.61	gold quality
right testis	UBERON:0004534	78.11	gold quality
buccal mucosa cell	CL:0002336	77.73	gold quality
testis	UBERON:0000473	75.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	73.12	gold quality
apex of heart	UBERON:0002098	71.59	gold quality
esophagus	UBERON:0001043	70.80	gold quality
gastrocnemius	UBERON:0001388	70.68	gold quality
right adrenal gland	UBERON:0001233	69.72	gold quality
muscle of leg	UBERON:0001383	69.51	gold quality
left adrenal gland	UBERON:0001234	69.33	gold quality
right adrenal gland cortex	UBERON:0035827	69.12	gold quality
left adrenal gland cortex	UBERON:0035825	69.00	gold quality
adrenal cortex	UBERON:0001235	67.91	gold quality
skin of leg	UBERON:0001511	67.85	gold quality
tendon of biceps brachii	UBERON:0008188	67.29	gold quality
right uterine tube	UBERON:0001302	67.06	gold quality
adrenal gland	UBERON:0002369	66.80	gold quality
cortical plate	UBERON:0005343	66.80	gold quality
vagina	UBERON:0000996	66.55	gold quality
left lobe of thyroid gland	UBERON:0001120	66.20	gold quality
minor salivary gland	UBERON:0001830	66.13	gold quality
hindlimb stylopod muscle	UBERON:0004252	65.95	gold quality
right lobe of thyroid gland	UBERON:0001119	65.70	gold quality
muscle organ	UBERON:0001630	65.06	gold quality
skin of abdomen	UBERON:0001416	64.90	gold quality
stromal cell of endometrium	CL:0002255	64.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting FBXW10B, 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-4283	100.00	66.42	2097
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-219A-1-3P	98.91	67.87	639
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-8056	97.15	64.49	769
HSA-MIR-1243	97.07	65.44	719
HSA-MIR-4256	96.22	67.70	669
HSA-MIR-3165	96.18	66.22	473

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxw10	ENSDARG00000086484
mus_musculus	Fbxw10	ENSMUSG00000090173
rattus_norvegicus	Fbxw10	ENSRNOG00000071275

Paralogs (1): FBXW10 (ENSG00000171931)

Protein

Protein identifiers

F-box and WD repeat domain containing protein 10B — O95170 (reviewed: O95170)

Alternative names: CMT1A duplicated region transcript 1 protein

All UniProt accessions (5): O95170, A0A087WSX6, I3L073, J3KTF7, J3QLS4

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in pancreas, heart and skeletal muscle.

Miscellaneous. FBXW10B gene is located centromeric to and partially within proximal CMT1A-REP element. CMT1A-REP is a complex binary repeat element flanking a 1.5-Mb DNA region duplicated in Charcot-Marie-Tooth disease type I (CMT1A) or deleted in Hereditary neuropathy (HNPP).

Isoforms (2)

UniProt ID	Names	Canonical?
O95170-1	1	yes
O95170-2	2

RefSeq proteins (2): NP_001269469, NP_006373* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051075	SCF_subunit_WD-repeat	Family

Pfam: PF00400

UniProt features (16 total): sequence conflict 7, repeat 6, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95170-F1	68.47	0.26

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): chr17p12, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, FORTSCHEGGER_PHF8_TARGETS_UP, MTOR_UP.N4.V1_UP, MIR4652_3P, MIR577, MIR766_5P, MIR583, MIR876_5P, MIR6839_5P, MIR3167, MIR449C_5P, MIR6814_5P, MIR34B_5P

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)

GO Cellular Component (1): cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

453 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXW10B	COX10	Q12887	868
FBXW10B	CDRT15	Q96T59	576
FBXW10B	CDRT15L2	A8MXV6	571
FBXW10B	CCDC191	Q8NCU4	564
FBXW10B	TBC1D28	Q2M2D7	479
FBXW10B	FAM81A	Q8TBF8	472
FBXW10B	ZNF114	Q8NC26	470
FBXW10B	SLC35G6	P0C7Q6	448
FBXW10B	SLC35G3	Q8N808	447
FBXW10B	CCDC144A	A2RUR9	447
FBXW10B	SPDYE4	A6NLX3	445
FBXW10B	OR3A2	P47893	444
FBXW10B	CHCT1	Q86WR6	436
FBXW10B	TBC1D26	Q86UD7	432
FBXW10B	SBK2	P0C263	424

IntAct

0 interactions, top by confidence:

BioGRID (2): CDRT1 (Affinity Capture-MS), FBXW10 (Negative Genetic)

ESM2 similar proteins: A0JPE1, A0JPH4, A2VDJ0, A4D0V7, A4IH36, A6H684, O75129, O88199, O95170, P16047, P23352, P33005, P97793, Q05004, Q08DV9, Q3U095, Q3U3D7, Q52KP5, Q5NDE4, Q5XI89, Q60943, Q68CR1, Q6L8S8, Q6L9W6, Q6PKC3, Q6Q2W4, Q6UWF7, Q7LFX5, Q7T2L7, Q7TN22, Q7Z443, Q80TS8, Q8CHI9, Q8JZL1, Q8K2W3, Q8N323, Q8N6G5, Q8NFM7, Q90369, Q91XQ5

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A8QCE4, A8WGF4, A8XJZ8, A8XXC7, B0G126, D2H5P6, D4A8G9, E1BLZ4, E9Q4P1, O14964, O88387, O95170, P34657, P52734, P98174, Q0CJV3, Q0P4S0, Q0U4Z8, Q0V8S0, Q11176, Q13615, Q17AN2, Q18964, Q22712, Q2GS33, Q2KIY3, Q3TB82, Q4P7Q1, Q4WHN8, Q54CH1, Q54TC3, Q5BBK9, Q5DU37, Q5PQT2, Q5R5R4, Q5RHI5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2199 predictions. Top by Δscore:

Variant	Effect	Δscore
17:15594746:A:AC	donor_gain	1.0000
17:15594747:C:CC	donor_gain	1.0000
17:15596509:CTTA:C	donor_loss	1.0000
17:15596511:TACC:T	donor_loss	1.0000
17:15596512:A:C	donor_loss	1.0000
17:15596658:CCATA:C	acceptor_gain	1.0000
17:15596659:CATA:C	acceptor_gain	1.0000
17:15596659:CATAC:C	acceptor_gain	1.0000
17:15596660:ATA:A	acceptor_gain	1.0000
17:15596661:TA:T	acceptor_gain	1.0000
17:15596663:C:CC	acceptor_gain	1.0000
17:15596690:A:C	acceptor_gain	1.0000
17:15599536:T:TA	donor_gain	1.0000
17:15605432:C:CT	acceptor_gain	1.0000
17:15607572:A:AC	donor_gain	1.0000
17:15607573:C:CC	donor_gain	1.0000
17:15607573:CGTGT:C	donor_gain	1.0000
17:15607680:CATT:C	acceptor_gain	1.0000
17:15613610:AGTAC:A	donor_loss	1.0000
17:15613611:GTACC:G	donor_loss	1.0000
17:15613612:TACCT:T	donor_loss	1.0000
17:15613613:ACC:A	donor_loss	1.0000
17:15613614:C:CA	donor_loss	1.0000
17:15613740:TTC:T	acceptor_gain	1.0000
17:15613741:TC:T	acceptor_gain	1.0000
17:15613741:TCC:T	acceptor_loss	1.0000
17:15613742:CC:C	acceptor_gain	1.0000
17:15613742:CCTGG:C	acceptor_loss	1.0000
17:15613743:C:CA	acceptor_loss	1.0000
17:15613743:C:CC	acceptor_gain	1.0000

AlphaMissense

4985 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:15593453:G:C	S630R	0.999
17:15593453:G:T	S630R	0.999
17:15593455:T:G	S630R	0.999
17:15596571:G:C	S549R	0.998
17:15596571:G:T	S549R	0.998
17:15596573:T:G	S549R	0.998
17:15596660:A:G	W520R	0.997
17:15596660:A:T	W520R	0.997
17:15605246:G:C	S470R	0.997
17:15605246:G:T	S470R	0.997
17:15605248:T:G	S470R	0.997
17:15596658:C:A	W520C	0.994
17:15596658:C:G	W520C	0.994
17:15596543:A:G	W559R	0.993
17:15596543:A:T	W559R	0.993
17:15613692:A:G	W308R	0.993
17:15613692:A:T	W308R	0.993
17:15598649:A:G	W480R	0.992
17:15598649:A:T	W480R	0.992
17:15605240:G:C	S472R	0.992
17:15605240:G:T	S472R	0.992
17:15605242:T:G	S472R	0.992
17:15596568:G:C	S550R	0.991
17:15596568:G:T	S550R	0.991
17:15596570:T:G	S550R	0.991
17:15593430:C:G	R638P	0.990
17:15594800:A:G	W599R	0.990
17:15594800:A:T	W599R	0.990
17:15613690:C:A	W308C	0.989
17:15613690:C:G	W308C	0.989

dbSNP variants (sampled 300 via entrez): RS1000144729 (17:15607261 G>A), RS1000146975 (17:15597557 C>A,T), RS1000263577 (17:15589323 AG>A), RS1000433095 (17:15607627 C>T), RS1000501405 (17:15583725 C>A,T), RS1000567468 (17:15581910 T>C), RS1000601160 (17:15590941 G>A), RS1000736443 (17:15590544 A>G), RS1000821229 (17:15594999 C>G), RS1000964157 (17:15575675 A>G), RS1001015516 (17:15618140 C>A), RS1001101611 (17:15574937 A>C,G), RS1001234734 (17:15600178 T>A), RS1001263812 (17:15606763 C>T), RS1001341598 (17:15618381 T>C)

Disease associations

OMIM: gene MIM:604596 | 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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, increases abundance	3
sodium arsenite	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	increases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
phenethyl isothiocyanate	increases expression	1
clothianidin	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Cisplatin	decreases expression	1
Endosulfan	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Latex	increases expression	1
Phenobarbital	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Zinc	affects cotreatment, increases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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