Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25793
Gene name	F-box protein 7
Gene symbol	FBXO7
Synonyms (NCBI Gene)	FBXFBX07FBX7PARK15PKPS
Chromosome	22
Chromosome location	22q12.3
Summary	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34316445	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs71799110	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121918304	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs121918305	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs730880272	G>T	Pathogenic	Splice donor variant
rs749019340	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs1228608709	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all (76)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023257	hsa-miR-122-5p	Microarray	17612493
MIRT037372	hsa-miR-877-5p	CLASH	23622248
MIRT440651	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440651	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT992950	hsa-miR-2278	CLIP-seq
MIRT992951	hsa-miR-3125	CLIP-seq
MIRT992952	hsa-miR-3150b-3p	CLIP-seq
MIRT992953	hsa-miR-335	CLIP-seq
MIRT992954	hsa-miR-3916	CLIP-seq
MIRT992955	hsa-miR-3922-5p	CLIP-seq
MIRT992956	hsa-miR-3938	CLIP-seq
MIRT992957	hsa-miR-4270	CLIP-seq
MIRT992958	hsa-miR-4441	CLIP-seq
MIRT992959	hsa-miR-4753-5p	CLIP-seq
MIRT992960	hsa-miR-4784	CLIP-seq
MIRT992961	hsa-miR-518d-5p	CLIP-seq
MIRT992962	hsa-miR-519b-5p	CLIP-seq
MIRT992963	hsa-miR-519c-5p	CLIP-seq
MIRT992964	hsa-miR-520c-5p	CLIP-seq
MIRT992965	hsa-miR-526a	CLIP-seq
MIRT992966	hsa-miR-589	CLIP-seq
MIRT992967	hsa-miR-877	CLIP-seq
MIRT992968	hsa-miR-885-3p	CLIP-seq
MIRT992950	hsa-miR-2278	CLIP-seq
MIRT992951	hsa-miR-3125	CLIP-seq
MIRT992952	hsa-miR-3150b-3p	CLIP-seq
MIRT992953	hsa-miR-335	CLIP-seq
MIRT992954	hsa-miR-3916	CLIP-seq
MIRT992969	hsa-miR-4490	CLIP-seq
MIRT992970	hsa-miR-4511	CLIP-seq
MIRT992971	hsa-miR-4711-5p	CLIP-seq
MIRT992972	hsa-miR-4773	CLIP-seq
MIRT992973	hsa-miR-4774-5p	CLIP-seq
MIRT992960	hsa-miR-4784	CLIP-seq
MIRT992974	hsa-miR-495	CLIP-seq
MIRT992961	hsa-miR-518d-5p	CLIP-seq
MIRT992962	hsa-miR-519b-5p	CLIP-seq
MIRT992963	hsa-miR-519c-5p	CLIP-seq
MIRT992964	hsa-miR-520c-5p	CLIP-seq
MIRT992965	hsa-miR-526a	CLIP-seq
MIRT992975	hsa-miR-548b-3p	CLIP-seq
MIRT992976	hsa-miR-570	CLIP-seq
MIRT992966	hsa-miR-589	CLIP-seq
MIRT992967	hsa-miR-877	CLIP-seq
MIRT2228496	hsa-miR-130a	CLIP-seq
MIRT2228497	hsa-miR-130b	CLIP-seq
MIRT2228498	hsa-miR-141	CLIP-seq
MIRT2228499	hsa-miR-200a	CLIP-seq
MIRT2228500	hsa-miR-219-1-3p	CLIP-seq
MIRT992950	hsa-miR-2278	CLIP-seq
MIRT2228501	hsa-miR-301a	CLIP-seq
MIRT2228502	hsa-miR-301b	CLIP-seq
MIRT2228503	hsa-miR-3065-3p	CLIP-seq
MIRT2228504	hsa-miR-3137	CLIP-seq
MIRT2228505	hsa-miR-3192	CLIP-seq
MIRT992953	hsa-miR-335	CLIP-seq
MIRT2228506	hsa-miR-3591-3p	CLIP-seq
MIRT2228507	hsa-miR-3666	CLIP-seq
MIRT2228508	hsa-miR-3913-3p	CLIP-seq
MIRT992957	hsa-miR-4270	CLIP-seq
MIRT2228509	hsa-miR-4295	CLIP-seq
MIRT2228510	hsa-miR-4314	CLIP-seq
MIRT992958	hsa-miR-4441	CLIP-seq
MIRT2228511	hsa-miR-454	CLIP-seq
MIRT2228512	hsa-miR-4646-5p	CLIP-seq
MIRT2228513	hsa-miR-4703-3p	CLIP-seq
MIRT2228514	hsa-miR-489	CLIP-seq
MIRT992968	hsa-miR-885-3p	CLIP-seq
MIRT2228515	hsa-miR-891b	CLIP-seq
MIRT992951	hsa-miR-3125	CLIP-seq
MIRT2532275	hsa-miR-3158-3p	CLIP-seq
MIRT2532276	hsa-miR-3675-3p	CLIP-seq
MIRT2532277	hsa-miR-3914	CLIP-seq
MIRT992954	hsa-miR-3916	CLIP-seq
MIRT2532278	hsa-miR-3928	CLIP-seq
MIRT2532279	hsa-miR-4446-3p	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IDA	23933751
GO:0000151	Component	Ubiquitin ligase complex	TAS	10531035
GO:0000422	Process	Autophagy of mitochondrion	IMP	23933751
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS	10531035
GO:0005515	Function	Protein binding	IPI	15145941, 16278047, 21378169, 22632967, 23933751, 25029497, 25416956, 25910212, 26496610, 27705803, 28514442, 31515488, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	36646384
GO:0005634	Component	Nucleus	IDA	16510124, 18495667, 21347293, 21378169, 23656991, 25029497, 26310625
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	16510124, 21347293, 21378169, 23656991, 25029497
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	23933751, 26310625
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA	18495667, 23933751
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	25029497
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	10531035
GO:0006626	Process	Protein targeting to mitochondrion	IMP	23933751
GO:0010975	Process	Regulation of neuron projection development	IMP	25029497
GO:0016567	Process	Protein ubiquitination	IDA	16510124
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	23933751
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	15145941
GO:0019005	Component	SCF ubiquitin ligase complex	TAS	16510124
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	18495667
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16510124
GO:0031647	Process	Regulation of protein stability	IDA	15145941
GO:0032991	Component	Protein-containing complex	IDA
GO:0040012	Process	Regulation of locomotion	IDA	26310625
GO:0043130	Function	Ubiquitin binding	IDA	25029497
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IC	36646384
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	36646384
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045620	Process	Negative regulation of lymphocyte differentiation	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	18495667
GO:0070936	Process	Protein K48-linked ubiquitination	IC	36646384
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	36646384
GO:0097409	Component	Glial cytoplasmic inclusion	IDA	23656991
GO:0097414	Component	Classical Lewy body	IDA	23656991
GO:0097462	Component	Lewy neurite	IDA	23656991
GO:1901526	Process	Positive regulation of mitophagy	IDA	26310625
GO:1901526	Process	Positive regulation of mitophagy	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	26310625
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP	25029497
GO:1903599	Process	Positive regulation of autophagy of mitochondrion	IBA
GO:1990037	Component	Lewy body core	IDA	23656991
GO:1990038	Component	Lewy body corona	IDA	23656991
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	15145941, 36646384
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IEA

MIM	HGNC	e!Ensembl
605648	13586	ENSG00000100225

Q9Y3I1

Protein name

F-box only protein 7

Protein function

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes s

PDB

4L9C , 4L9H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11566	PI31_Prot_N	188 → 322	PI31 proteasome regulator N-terminal	Family
PF00646	F-box	330 → 377	F-box domain	Domain

Sequence

MRLRVRLLKRTWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDE
ETLASYGIVSGDLICLILQDDIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQP
SDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEGTGFYPSEPMLCSESVEGQVP
HSLETLYQSADCSDANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMH
PLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLLPESFICKEKLGENVANIYKD
LQKLSRLFKDQLVYPLLAFTRQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCR
DLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRHIQRKESPKGRFVMLLPSSTH
TIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRP
RFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM

Sequence length

522

Interactions

View interactions

	Reactome
			Neddylation Antigen processing: Ubiquitination & Proteasome degradation

381

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Likely pathogenic	rs762209257	RCV005934959
FBXO7-related disorder	Likely pathogenic; Pathogenic	rs1290655316	RCV003392591
Glioma susceptibility 1	Likely pathogenic	rs762209257	RCV005934958
Parkinsonian-pyramidal syndrome	Pathogenic; Likely pathogenic	rs1342038737, rs369105683, rs2146009225, rs750398883, rs71799110, rs121918304, rs730880272, rs121918305, rs376455464, rs151103559, rs1370252127, rs778770873, rs2544671633, rs2057587984, rs2057490468 View all (24 more)	RCV001950804 RCV003101279 RCV002226951 RCV003071818 RCV000005077 RCV000005078 RCV000005079 RCV000005080 RCV002876753 RCV003123290 RCV003441156 RCV003505531 RCV003505802 RCV003506057 RCV003506507 RCV003506293 RCV003506489 RCV003504782 RCV003504783 RCV003504819 RCV003504908 RCV003505042 RCV003505073 RCV003611934 RCV003612947 RCV003613205 RCV003611390 RCV003611338 RCV003612085 RCV003612368 RCV003612416 RCV003612402 RCV003612314 RCV003612254 RCV003819303 RCV003817422 RCV003815200 RCV003831257 RCV000578350 RCV000778655 RCV000778656 RCV000795355

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1458349518	-
Acute myeloid leukemia	Likely benign; Benign	rs117106070, rs114187411, rs77327421	RCV005917463 RCV005918761 RCV005913913
Cervical cancer	Likely benign	rs117106070, rs201875880	RCV005917466 RCV005921313
Cholangiocarcinoma	Likely benign	rs117106070	RCV005917469
Familial cancer of breast	Likely benign; Uncertain significance	rs367584088, rs201875880, rs139135860	RCV005912787 RCV005921312 RCV005897551
Hepatocellular carcinoma	Likely benign	rs117106070	RCV005917464
Lung cancer	Benign	rs77327421	RCV005913918
Malignant tumor of esophagus	Likely benign	rs117106070	RCV005917465
Nonpapillary renal cell carcinoma	Benign	rs77327421	RCV005913914
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs117106070, rs201875880, rs77327421	RCV005917468 RCV005921314 RCV005913916
Parkinson Disease, Recessive	Uncertain significance; Benign	rs886057414, rs540551581, rs886057416, rs886057415, rs886057421, rs2072814, rs757675819	RCV000364231 RCV000309507 RCV000369298 RCV000334060 RCV000283154 RCV000269648 RCV000284058
Sarcoma	Likely benign; Benign	rs117106070, rs114187411, rs77327421	RCV005917467 RCV005918762 RCV005913915
Thyroid cancer, nonmedullary, 1	Benign	rs77327421	RCV005913917
Uterine carcinosarcoma	Likely benign	rs762185670	RCV005931415
Uterine corpus endometrial carcinoma	Benign	rs114187411, rs77327421	RCV005918763 RCV005913919

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	36233161
Carcinogenesis	Associate	37344480
Carcinoma Hepatocellular	Associate	15145941
Carcinoma Non Small Cell Lung	Associate	26245297
Cardiomyopathies	Associate	38291374
Chromosomal Instability	Inhibit	34791250
Cognition Disorders	Associate	20669327, 20853184
Colorectal Neoplasms	Inhibit	34791250
Depressive Disorder	Associate	15145941
Dystonia Dopa responsive	Associate	20669327
Endometrial Neoplasms	Associate	37344480
Epilepsy	Associate	32767480
Genetic Diseases Inborn	Associate	20669327
Heredodegenerative Disorders Nervous System	Associate	20853184
Iron Deficiencies	Associate	32767480, 36233161
Kufor Rakeb syndrome	Associate	20853184, 22117566
Lung Neoplasms	Associate	26245297
Mitochondrial Diseases	Associate	27689878
Mitochondrial Diseases	Inhibit	37344480
Movement Disorders	Associate	36233161
Myopathy with Giant Abnormal Mitochondria	Associate	38291374
Neoplasm Metastasis	Associate	37742869
Neoplasms	Associate	26245297, 27503909, 35799780, 37742869
Neoplasms	Inhibit	37344480
Neoplastic Syndromes Hereditary	Associate	28341977
Neurodegenerative Diseases	Associate	18513678, 22117566, 32767480
Neuroferritinopathy	Associate	32767480
Pallidopyramidal syndrome	Associate	18513678, 20853184, 22117566, 24063688, 24361204, 32274857, 32767480, 33002721
Pantothenate Kinase Associated Neurodegeneration	Associate	36233161
Paraplegia	Associate	32767480
Parkinson Disease	Associate	26245297, 27503909, 27689878, 33002721, 34148545, 35053314, 36499697, 37874827
Parkinson Disease Familial Type 1	Associate	27861377
Parkinson Disease Secondary	Associate	20669327, 24063688, 27861377, 32767480, 38466799
Parkinsonian Disorders	Associate	20853184, 22117566, 33002721
Popliteal Pterygium Syndrome	Associate	32767480
Prostatic Neoplasms	Associate	36045381
Spastic Paraplegia Hereditary	Associate	20669327
Spinocerebellar Degenerations	Associate	32767480
Stomach Neoplasms	Associate	37742869
Supranuclear Palsy Progressive	Associate	20853184

FBXO7 (F-box protein 7)