CCNB3 (cyclin B3)

Gene

• Entrez ID: 85417
• Gene name: Cyclin B3
• Gene symbol: CCNB3
• Synonyms (NCBI Gene): CYCB3
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDK

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1602253764	T>A	Pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IBA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IBA
GO:0005515	Function	Protein binding	IPI	12185076, 17174311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA

Other IDs

• MIM: 300456
• HGNC: 18709
• e!Ensembl: ENSG00000147082

Protein

• UniProt ID: Q8WWL7
• Protein name: G2/mitotic-specific cyclin-B3
• Protein function: Cyclins are positive regulatory subunits of the cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00134	Cyclin_N	1132 → 1257	Cyclin, N-terminal domain	Domain
  PF02984	Cyclin_C	1259 → 1375	Cyclin, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis specific. In testis, it is expressed in developing germ cells, but not in Leydig cells. Weakly or not expressed in other tissues. {ECO:0000269|PubMed:11846420, ECO:0000269|PubMed:12185076}.
• Sequence:

  MLLPLPPQSSKPVPKKSQSSKIVPSHHDPSEKTGENCQTKISPSSLQESPSSLQGALKKR
  SAFEDLTNASQCQPVQPKKEANKEFVKVVSKKINRNTHALGLAKKNKRNLKWHKLEVTPV
  VASTTVVPNIMEKPLILDISTTSKTPNTEEASLFRKPLVLKEEPTIEDETLINKSLSLKK
  CSNHEEVSLLEKLQPLQEESDSDDAFVIEPMTFKKTHKTEEAAITKKTLSLKKKMCASQR
  KQSCQEESLAVQDVNMEEDSFFMESMSFKKKPKTEESIPTHKLSSLKKKCTIYGKICHFR
  KPPVLQTTICGAMSSIKKPTTEKETLFQELSVLQEKHTTEHEMSILKKSLALQKTNFKED
  SLVKESLAFKKKPSTEEAIMMPVILKEQCMTEGKRSRLKPLVLQEITSGEKSLIMKPLSI
  KEKPSTEKESFSQEPSALQKKHTTQEEVSILKEPSSLLKSPTEESPFDEALAFTKKCTIE
  EAPPTKKPLILKRKHATQGTMSHLKKPLILQTTSGEKSLIKEPLPFKEEKVSLKKKCTTQ
  EMMSICPELLDFQDMIGEDKNSFFMEPMSFRKNPTTEETVLTKTSLSLQEKKITQGKMSH
  LKKPLVLQKITSEEESFYKKLLPFKMKSTTEEKFLSQEPSALKEKHTTLQEVSLSKESLA
  IQEKATTEEEFSQELFSLHVKHTNKSGSLFQEALVLQEKTDAEEDSLKNLLALQEKSTME
  EESLINKLLALKEELSAEAATNIQTQLSLKKKSTSHGKVFFLKKQLALNETINEEEFLNK
  QPLALEGYPSIAEGETLFKKLLAMQEEPSIEKEAVLKEPTIDTEAHFKEPLALQEEPSTE
  KEAVLKEPSVDTEAHFKETLALQEKPSIEQEALFKRHSALWEKPSTEKETIFKESLDLQE
  KPSIKKETLLKKPLALKMSTINEAVLFEDMIALNEKPTTGKELSFKEPLALQESPTYKED
  TFLKTLLVPQVGTSPNVSSTAPESITSKSSIATMTSVGKSGTINEAFLFEDMITLNEKPT
  TGKELSFKEPLALQESPTCKEDTFLETFLIPQIGTSPYVFSTTPESITEKSSIATMTSVG
  KSRTTTESSACESASDKPVSPQAKGTPKEITPREDIDEDSSDPSFNPMYAKEIFSYMKER
  EEQFILTDYMNRQIEITSDMRAILVDWLVEVQVSFEMTHETLYLAVKLVDLYLMKAVCKK
  DKLQLLGATAFMIAAKFEEHNSPRVDDFVYICDDNYQRSEVLSMEINILNVLKCDINIPI
  AYHFLRRYARCIHTNMKTLTLSRYICEMTLQEYHYVQEKASKLAAASLLLALYMKKLGYW
  VPFLEHYSGYSISELHPLVRQLNKLLTFSSYDSLKAVYYKYSHPVFFEVAKIPALDMLKL
  EEILNCDCEAQGLVL

• Sequence length: 1395

Pathways

KEGG:

FoxO signaling pathway
Cell cycle
Cellular senescence
Progesterone-mediated oocyte maturation
Human immunodeficiency virus 1 infection

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pregnancy loss, recurrent, susceptibility to, 1	Pathogenic	rs1602253764	RCV000824808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bone Diseases	Bone disease	Pubtator	28817404	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25360585, 26573325	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	27428733, 28817404, 28833375		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	24801613, 29920735		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	27428733	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	24801613, 24805859, 26847175, 27228320, 28756981, 30064235		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34819304	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	28817404, 29300189	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27228320		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25176412, 25360585, 27180056, 28759137, 28877060		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CTD_human_DG	22387997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	24805859, 28833375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	22387997, 24801613, 24805859, 25360585, 26847175, 27228320, 27306060, 28197724, 28420319, 28756981, 28817404, 28833375, 30064235, 30633925, 31033080, 31647130, 31679010		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	25360585, 28817404, 29104083, 29300189, 32871837, 35568949	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	36563883	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25360585, 29533464, 35568949	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	27228320		★☆☆☆☆ Found in Text Mining only