CCNB3 (cyclin B3)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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 information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1602253764 T>A Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300456 18709 ENSG00000147082
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  FoxO signaling pathway
Cell cycle
Cellular senescence
Progesterone-mediated oocyte maturation
Human immunodeficiency virus 1 infection 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pregnancy loss, recurrent, susceptibility to, 1 Pathogenic rs1602253764 RCV000824808
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 32938693
Arrest of spermatogenesis Associate 32938693
Bone Diseases Associate 28817404
Carcinoma Associate 25360585, 26573325
Desmoplastic Small Round Cell Tumor Associate 27428733
Kidney Diseases Associate 34819304
Liposarcoma Myxoid Associate 28817404, 29300189
MASS syndrome Associate 32648496
Mesenchymoma Associate 35836306
Mucopolysaccharidoses Unclassified Types Associate 25360585