FBXW4 (F-box and WD repeat domain containing 4)

Gene

• Entrez ID: 6468
• Gene name: F-box and WD repeat domain containing 4
• Gene symbol: FBXW4
• Synonyms (NCBI Gene): DAC, FBW4, FBWD4, SHFM3, SHSF3
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for mainta

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT993427	hsa-miR-1288	CLIP-seq
MIRT993428	hsa-miR-1343	CLIP-seq
MIRT993429	hsa-miR-15a	CLIP-seq
MIRT993430	hsa-miR-15b	CLIP-seq
MIRT993431	hsa-miR-16	CLIP-seq
MIRT993432	hsa-miR-195	CLIP-seq
MIRT993433	hsa-miR-214	CLIP-seq
MIRT993434	hsa-miR-217	CLIP-seq
MIRT993435	hsa-miR-3126-5p	CLIP-seq
MIRT993436	hsa-miR-3179	CLIP-seq
MIRT993437	hsa-miR-3192	CLIP-seq
MIRT993438	hsa-miR-3199	CLIP-seq
MIRT993439	hsa-miR-326	CLIP-seq
MIRT993440	hsa-miR-330-5p	CLIP-seq
MIRT993441	hsa-miR-3619-5p	CLIP-seq
MIRT993442	hsa-miR-3689a-3p	CLIP-seq
MIRT993443	hsa-miR-3689c	CLIP-seq
MIRT993444	hsa-miR-3914	CLIP-seq
MIRT993445	hsa-miR-424	CLIP-seq
MIRT993446	hsa-miR-4314	CLIP-seq
MIRT993447	hsa-miR-4422	CLIP-seq
MIRT993448	hsa-miR-4490	CLIP-seq
MIRT993449	hsa-miR-4646-5p	CLIP-seq
MIRT993450	hsa-miR-4677-3p	CLIP-seq
MIRT993451	hsa-miR-4679	CLIP-seq
MIRT993452	hsa-miR-4688	CLIP-seq
MIRT993453	hsa-miR-4722-3p	CLIP-seq
MIRT993454	hsa-miR-4728-5p	CLIP-seq
MIRT993455	hsa-miR-4747-5p	CLIP-seq
MIRT993456	hsa-miR-4774-5p	CLIP-seq
MIRT993457	hsa-miR-486-3p	CLIP-seq
MIRT993458	hsa-miR-497	CLIP-seq
MIRT993459	hsa-miR-515-5p	CLIP-seq
MIRT993460	hsa-miR-761	CLIP-seq
MIRT1994671	hsa-miR-4732-3p	CLIP-seq
MIRT1994672	hsa-miR-4755-5p	CLIP-seq
MIRT1994673	hsa-miR-670	CLIP-seq
MIRT2228765	hsa-miR-128	CLIP-seq
MIRT2228766	hsa-miR-1915	CLIP-seq
MIRT2228767	hsa-miR-1972	CLIP-seq
MIRT2228768	hsa-miR-3137	CLIP-seq
MIRT2228769	hsa-miR-330-3p	CLIP-seq
MIRT2228770	hsa-miR-371b-3p	CLIP-seq
MIRT2228771	hsa-miR-4433	CLIP-seq
MIRT2228772	hsa-miR-4645-5p	CLIP-seq
MIRT2228773	hsa-miR-4673	CLIP-seq
MIRT2228774	hsa-miR-4717-5p	CLIP-seq
MIRT2228775	hsa-miR-4726-3p	CLIP-seq
MIRT2228776	hsa-miR-665	CLIP-seq
MIRT2532315	hsa-miR-204	CLIP-seq
MIRT2532316	hsa-miR-211	CLIP-seq
MIRT2532317	hsa-miR-3121-5p	CLIP-seq
MIRT2228769	hsa-miR-330-3p	CLIP-seq
MIRT2532318	hsa-miR-4731-5p	CLIP-seq
MIRT1994672	hsa-miR-4755-5p	CLIP-seq
MIRT2532319	hsa-miR-548aa	CLIP-seq
MIRT2532320	hsa-miR-548p	CLIP-seq
MIRT2532321	hsa-miR-578	CLIP-seq
MIRT2532322	hsa-miR-607	CLIP-seq
MIRT2532323	hsa-miR-623	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	NAS	10945468
GO:0005515	Function	Protein binding	IPI	22632967, 27705803, 32814053, 33961781
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	10945468
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	IBA
GO:0030326	Process	Embryonic limb morphogenesis	NAS	10405324
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA

Other IDs

• MIM: 608071
• HGNC: 10847
• e!Ensembl: ENSG00000107829

Protein

• UniProt ID: P57775
• Protein name: F-box/WD repeat-containing protein 4 (Dactylin) (F-box and WD-40 domain-containing protein 4)
• Protein function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12937	F-box-like	28 → 74	F-box-like	Domain
  PF00400	WD40	192 → 227	WD domain, G-beta repeat	Repeat
  PF00400	WD40	326 → 365	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, kidney, lung and liver. {ECO:0000269|PubMed:10405324}.
• Sequence:

  MAAAAGEEEEEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRR
  FTSCDLLWRRIARASLNSGFTRLGTDLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQ
  MPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAG
  GDGKIGIHKIHSTFTVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHT
  IQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSGQLMTHLGSDFPPGAGVLDVM
  YESPFTLLSCGYDTYVRYWDLRTSVRKCVMEWEEPHDSTLYCLQTDGNHLLATGSSYYGV
  VRLWDRRQRACLHAFPLTSTPLSSPVYCLRLTTKHLYAALSYNLHVLDFQNP

• Sequence length: 412

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectrodactyly	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FBXW4-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Split hand-foot malformation 3	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPLIT-HAND/FOOT MALFORMATION 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31661339		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24665856		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22076154		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35589867	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24665856		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25611377		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22429346		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30964202		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25611377		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34373442	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23975733		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	15232212, 18392654, 21485001		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ectrodactyly	Ectrodactyly	Pubtator	15232212	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioma	Glioma	Pubtator	39377096	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	16292549		★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	16688753		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16193303, 22517724, 23660386, 25611377, 26149802, 28404876, 30210693, 30793488, 31661339		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	18392654		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25649327		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22076154		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25611377		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	24584817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24665856		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23658844, 25566693, 30593524, 30797153		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25611377		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27623509		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28387383, 28450896, 28803486		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28387383, 28707278		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	16210092, 16292549, 25611377		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16210092, 16211386, 16292549, 25611377, 30210693, 30793488		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30964202		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21491416, 23034519, 23658844, 23975733, 24584817, 25301731, 25611377, 30593524, 30797153		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21626030, 23034519		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23658844		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29910819, 30593524		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	16207208		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23975733		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	9455797		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24584817		★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	BEFREE	10330351, 17120235		★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	15232212, 18392654, 21485001		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 3	Split-Hand-Foot Malformation	GENOMICS_ENGLAND_DG	18067070, 21485001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 3	Split-Hand-Foot Malformation	BEFREE	24038848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30797153		★☆☆☆☆ Found in Text Mining only