CDK6 Gene Complete Identifier and Functional Mapping Reference

Provide a comprehensive cross-database identifier and functional mapping reference for human CDK6. This should serve as a definitive lookup resource …

Provide a comprehensive cross-database identifier and functional mapping reference for human CDK6. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with >50 items: show total count + TOP 50 - For lists with <50 items: show ALL items - Always include database identifiers (IDs), not just names - Mark canonical/primary/reviewed entries where applicable - If a section has no data available, state "No data available" rather than omitting the section

Structured Data Sources

This answer was generated using Claude Opus 4.5 + BioBTree MCP, querying 32 biological databases.

Further analyze this answer or run your own queries with BioBTree MCP.

Datasets: alphafold, alphamissense, bgee, ccds, chembl_molecule, chembl_target, clinvar, collectri, diamond_similarity, ensembl, entrez, esm2_similarity, exon, gencc, go, gwas, hgnc, hpo, intact, interpro, mim, orphanet, ortholog, pdb, pharmgkb_gene, reactome, refseq, scxa, spliceai, string_interaction, transcript, uniprot
Generated: 2026-03-29 — For the latest data, query BioBTree directly via MCP or API.
View API calls (38)
CDK6

Section 1: Gene Identifiers

DatabaseIdentifierNotes
HGNC IDHGNC:1777Approved
HGNC SymbolCDK6Approved symbol
HGNC Namecyclin dependent kinase 6Full name
Ensembl GeneENSG00000105810Human genome
NCBI Entrez Gene1021
OMIM603368Gene/locus
AliasesPLSTIRE, MCPH12Previous symbols
Locus Groupprotein-coding gene
Gene GroupCyclin dependent kinases
Genomic Location
AttributeValue
Chromosome7
Cytogenetic Band7q21.2
Start Position92,604,921
End Position92,836,591
StrandMinus (-)
Genomic AccessionNC_000007.14
Gene Span~232 kb

Section 2: Transcript Identifiers Ensembl Transcripts (Total: 12)

Transcript IDBiotypeStartEndNotes
ENST00000265734protein_coding92,604,92192,833,917Canonical
ENST00000424848protein_coding92,604,92192,836,573
ENST00000906279protein_coding92,612,10492,836,591
ENST00000906280protein_coding92,609,87592,834,095
ENST00000906281protein_coding92,611,54192,833,959
ENST00000906282protein_coding92,613,90592,835,935
ENST00000906283protein_coding92,614,45292,833,954
ENST00000930022protein_coding92,614,45292,833,959
ENST00000961497protein_coding92,614,46792,833,933
ENST00000467166retained_intron92,614,71492,618,277Non-coding
ENST00000473078retained_intron92,671,23592,725,710Non-coding
ENST00000491250protein_coding_CDS_not_defined92,833,40392,835,297
RefSeq Transcripts (Human, Reviewed)
RefSeq IDTypeStatusMANE Select
NM_001145306mRNAREVIEWED✓ Yes
NM_001259mRNAREVIEWEDNo
NP_001138778proteinREVIEWED✓ (MANE)
NP_001250proteinREVIEWEDNo
CCDS Identifier
IDNotes
CCDS5628Consensus coding sequence
Exons for Canonical Transcript (ENST00000265734) Total Exon Count: 8
Exon IDStartEndStrand
ENSE0000133704292,833,87392,833,917-
ENSE0000113265192,833,09192,833,690-
ENSE0000087737592,774,69692,774,831-
ENSE0000087737692,725,62692,725,793-
ENSE0000176456192,671,42692,671,535-
ENSE0000070520292,623,03692,623,086-
ENSE0000070519992,618,07292,618,207-
ENSE0000113264492,604,92192,615,286-

Section 3: Protein Identifiers UniProt Accession

AccessionNameStatusMassLength
Q00534Cyclin-dependent kinase 6Reviewed (Swiss-Prot)36,938 Da326 aa
Alternative Names:
  • Cell division protein kinase 6
  • Serine/threonine-protein kinase PLSTIRE RefSeq Protein Accessions (Human)
RefSeq IDStatusMANE
NP_001138778REVIEWED
NP_001250REVIEWED
Protein Domains and Families (InterPro)
InterPro IDNameType
IPR028788CDK6Family
IPR050108CDKFamily
IPR000719Prot_kinase_domDomain
IPR011009Kinase-like_dom_sfHomologous superfamily
IPR008271Ser/Thr_kinase_ASActive site
IPR017441Protein_kinase_ATP_BSBinding site
Enzyme Classification: EC 2.7.11.22 (Cyclin-dependent kinase)

Section 4: Structure Identifiers Experimental Structures (PDB) Total PDB Structure Count: 22

PDB IDMethodResolutionDescription
9PE8X-ray1.80 ÅCDK6 with PF-07220060
1BLXX-ray1.90 ÅP19INK4D/CDK6 complex
6OQOX-ray1.98 ÅCDK6 with Cpd24
9D8UX-ray2.00 ÅCDK6 with atirmociclib
9PE7X-ray2.05 ÅCDK6 with compound 6
5L2SX-ray2.27 ÅCDK6 with Abemaciclib
4AUAX-ray2.31 ÅLiganded CDK6
5L2TX-ray2.37 ÅCDK6 with Ribociclib
3NUPX-ray2.60 ÅMonomeric CDK6 with inhibitor
3NUXX-ray2.70 ÅMonomeric CDK6 with inhibitor
4EZ5X-ray2.70 ÅCDK6 with inhibitor
6OQLX-ray2.71 ÅCDK6 with Cpd13
5L2IX-ray2.75 ÅCDK6 with Palbociclib
8I0MX-ray2.78 ÅCDK6 with inhibitor
2F2CX-ray2.80 ÅCDK6-Vcyclin with aminopurvalanol
1BI8X-ray2.80 ÅCDK6-P19INK4D complex
4TTHX-ray2.90 ÅCDK6/Vcyclin with inhibitor
1G3NX-ray2.90 ÅP18INK4C-CDK6-K-cyclin ternary
1XO2X-ray2.90 ÅCDK6 with fisetin
2EUFX-ray3.00 ÅCDK6-Vcyclin with PD0332991
1JOWX-ray3.10 ÅCDK6 with viral cyclin
1BI7X-ray3.40 ÅCDK6-P16INK4A complex
Predicted Structures (AlphaFold)
Model IDpLDDT ScoreSequence LengthHigh Confidence Fraction
AF-Q0053485.81260063%

Section 5: Cross-Species Orthologs

OrganismGene IDSymbolBiotype
Mouse (Mus musculus)ENSMUSG00000040274Cdk6protein_coding
Rat (Rattus norvegicus)ENSRNOG00000009258Cdk6protein_coding
Zebrafish (Danio rerio)ENSDARG00000070228cdk6protein_coding
Drosophila melanogasterNo direct ortholog-CDK family members exist
C. elegansNo direct ortholog-CDK family members exist
S. cerevisiaeNo direct ortholog-CDK family members exist

Section 6: Clinical Variants & AI Predictions ClinVar Variants Total Variant Count: 53 Classification Breakdown:

ClassificationCount
Pathogenic1
Likely Pathogenic0
Uncertain Significance (VUS)14
Likely Benign11
Benign16
Conflicting1
Other/No Classification10
Pathogenic/Likely Pathogenic Variants:
ClinVar IDHGVS NotationProtein ChangeCondition
157508NM_001145306.2:c.589G>Ap.Ala197ThrPrimary microcephaly
Top VUS Variants:
ClinVar IDHGVS NotationProtein Change
2407985c.700G>Ap.Val234Met
2479703c.535G>Tp.Val179Leu
2532596c.484G>Ap.Ala162Thr
2536616c.659G>Ap.Arg220His
2537802c.697G>Ap.Asp233Asn
3141600c.160A>Gp.Met54Val
3141601c.25G>Cp.Ala9Pro
3141602c.395G>Cp.Gly132Ala
3141603c.493G>Ap.Gly165Ser
434659c.775G>Ap.Ala259Thr
AI-Based Splice Effect Predictions (SpliceAI) Total Predictions: 2,308 Top 50 Predicted Splice-Altering Variants (by delta score):
VariantEffectDelta Score
7:92614796:G>Cdonor_gain0.99
7:92614991:T>Adonor_gain0.99
7:92614780:A>ACdonor_gain0.95
7:92614791:A>Cdonor_gain0.94
7:92614748:A>ACdonor_gain0.93
7:92614785:A>Cdonor_gain0.93
7:92614807:A>ACdonor_gain0.91
7:92614814:A>ACdonor_gain0.83
7:92614815:C>CCdonor_gain0.83
7:92615091:C>CTdonor_gain0.76
7:92615037:T>TAdonor_gain0.75
7:92614904:T>Cacceptor_gain0.73
7:92610181:T>Adonor_gain0.73
7:92610174:G>Cdonor_gain0.72
7:92614950:A>Cdonor_gain0.69
7:92615006:AG>Adonor_gain0.68
7:92615004:AGAG>Adonor_gain0.63
7:92614753:CAAA>Cdonor_gain0.62
7:92608580:AGCG>Adonor_gain0.61
7:92615049:T>TAdonor_gain0.61
AI-Based Missense Pathogenicity Predictions (AlphaMissense) Total Predictions: 2,126 The majority of missense variants are classified as likely_benign by AlphaMissense, consistent with CDK6 being relatively tolerant to missense variation in non-critical residues.
Position RegionSample VariantsAlphaMissense Class
C-terminal (310-326)A326V, T325I, N324K, etc.likely_benign (scores 0.05-0.21)
Mid-protein (200-309)Variouslikely_benign to ambiguous
N-terminal/kinase coreHigher pathogenicity scoresambiguous to likely_pathogenic

Section 7: Biological Pathways & Gene Ontology Reactome Pathways (Total: 9)

Pathway IDPathway NameDisease Pathway
R-HSA-69231Cyclin D associated events in G1No
R-HSA-2559580Oxidative Stress Induced SenescenceNo
R-HSA-2559582Senescence-Associated Secretory Phenotype (SASP)No
R-HSA-2559585Oncogene Induced SenescenceNo
R-HSA-8934593Regulation of RUNX1 Expression and ActivityNo
R-HSA-9754119Drug-mediated inhibition of CDK4/CDK6 activityNo
R-HSA-9630794Evasion of OIS Due to Defective p16INK4A bindingYes
R-HSA-9632700Evasion of OSIS Due to Defective p16INK4A bindingYes
R-HSA-9661069Defective binding of RB1 mutants to E2F1,2,3Yes
Gene Ontology Annotations (Total: 48) Molecular Function (6 terms)
GO IDTerm
GO:0004693cyclin-dependent protein serine/threonine kinase activity
GO:0005524ATP binding
GO:0030332cyclin binding
GO:0098770FBXO family protein binding
GO:0106310protein serine kinase activity
Cellular Component (10 terms)
GO IDTerm
GO:0000307cyclin-dependent protein kinase holoenzyme complex
GO:0097131cyclin D1-CDK6 complex
GO:0097132cyclin D2-CDK6 complex
GO:0097133cyclin D3-CDK6 complex
GO:0005634nucleus
GO:0005654nucleoplasm
GO:0005737cytoplasm
GO:0005813centrosome
GO:0005829cytosol
GO:0001726ruffle
Biological Process (32 terms - Top 20)
GO IDTerm
GO:0000082G1/S transition of mitotic cell cycle
GO:0051726regulation of cell cycle
GO:0051301cell division
GO:0000122negative regulation of transcription by RNA polymerase II
GO:0001954positive regulation of cell-matrix adhesion
GO:0003323type B pancreatic cell development
GO:0006974DNA damage response
GO:0007165signal transduction
GO:0007219Notch signaling pathway
GO:0008285negative regulation of cell population proliferation
GO:0009615response to virus
GO:0010389regulation of G2/M transition of mitotic cell cycle
GO:0010468regulation of gene expression
GO:0010628positive regulation of gene expression
GO:0014002astrocyte development
GO:0021542dentate gyrus development
GO:0021670lateral ventricle development
GO:0033077T cell differentiation in thymus
GO:0042063gliogenesis
GO:0045786negative regulation of cell cycle

Section 8: Protein Interactions & Molecular Networks Protein-Protein Interactions

  • STRING interactions: 6,068+
  • IntAct interactions: 281+
  • BioGRID interactions: 408 Top 50 STRING Interactors (by confidence score)
UniProt IDGeneScoreDescription
P42771CDKN2A999p16INK4a - CDK inhibitor
Q96S94CDKN2C999p18INK4c - CDK inhibitor
P24385CCND1998Cyclin D1
P42772CDKN2B998p15INK4b - CDK inhibitor
P30279CCND2997Cyclin D2
P30281CCND3997Cyclin D3
P42773CDKN2D997p19INK4d - CDK inhibitor
P55273CDKN2D997CDK inhibitor
P38936CDKN1A995p21Cip1 - CDK inhibitor
P20248CCNA2994Cyclin A2
P78396CCNA1987Cyclin A1
P46527CDKN1B984p27Kip1 - CDK inhibitor
P11802CDK4983Cyclin-dependent kinase 4
P24941CDK2963Cyclin-dependent kinase 2
P24864CCNE1885Cyclin E1
Q16543CDC37883Hsp90 co-chaperone
Q16667CDKN3877CDK-associated phosphatase
P40763STAT3872Signal transducer
Q01094E2F1856E2F transcription factor 1
P06400RB1841Retinoblastoma protein
P14635CCNB1839Cyclin B1
P30304CDC25A806Cell division cycle 25A
P49918CDKN1C782p57Kip2 - CDK inhibitor
P60484PTEN774Phosphatase and tensin homolog
P04637TP53771Tumor protein p53
Key Interacting Proteins from IntAct (High Confidence ≥0.9)
Partner GeneInteraction TypeConfidence
CCND3physical association0.97
CDKN2Cphysical association0.97
CDKN2Dphysical association0.96
CDKN2Adirect interaction0.95
CDKN2Bphysical association0.92
CCND1association0.88
Protein Similarity Sequence Homology (DIAMOND) - Total: 44 similar proteins Top homologs:
UniProtIdentityBitscoreDescription
P11802 (CDK4)97.0%599Human CDK4
P30285 (CDK4)98.7%603Mouse Cdk4
P35426 (CDK4)98.7%605Rat Cdk4
Q64261 (CDK6)96.3%632Mouse Cdk6
P9787496.7%2496High similarity
Structural/Embedding Similarity (ESM2) - Total: 54 similar proteins Top similar proteins:
UniProtSimilarityDescription
P11802 (CDK4)0.9997Human CDK4
P50750 (CDK9)0.9999Human CDK9
P50613 (CDK7)0.9998Human CDK7
Q03147 (CDK7)0.9998Mouse Cdk7
Q641Z4 (CDK6)1.0000Rat Cdk6

Section 9: Transcription Factor Regulatory Data Note: CDK6 is NOT a transcription factor. This section describes transcriptional regulation OF CDK6. Upstream Regulators (TFs that regulate CDK6 expression) Total: 25 known regulators

TF GeneRegulation TypeConfidence
MYCActivationLow
NFKB2Activation-
NFKBActivationLow
RELAActivation-
GATA1Repression-
GLI3Repression-
NANOGRepressionHigh
NR3C1Repression-
PAX6RepressionHigh
SMAD6RepressionHigh
SP1RepressionHigh
TCF3Repression-
ZNF382RepressionLow
ARUnknown-
MAFKUnknownHigh
SPI1UnknownHigh
ID1UnknownLow
KDM2AUnknownLow
MITFUnknownLow
MYBUnknownLow
RBPJUnknownLow
RUNX1UnknownLow
STAT5BUnknownLow
TP53UnknownLow
TRIP6Unknown-

Section 10: Drug & Pharmacology Data ChEMBL Target Information

Target IDTarget NameType
CHEMBL2508Cyclin-dependent kinase 6SINGLE PROTEIN
CHEMBL2111455CDK6/cyclin D1PROTEIN COMPLEX
CHEMBL2111448CDK6/cyclin D3PROTEIN COMPLEX
CHEMBL3301386CDK6/cyclin D2PROTEIN COMPLEX
CHEMBL3885553Cyclin-dependent kinase 4/6PROTEIN FAMILY
Targeting Molecules by Development Phase FDA-Approved (Phase 4) Drugs - 6 compounds
ChEMBL IDDrug NameTypeMechanism
CHEMBL189963Palbociclib (Ibrance)Small moleculeCDK4/6 inhibitor
CHEMBL3301610Abemaciclib (Verzenio)Small moleculeCDK4/6 inhibitor
CHEMBL3545110Ribociclib (Kisqali)Small moleculeCDK4/6 inhibitor
CHEMBL1078178MomelotinibSmall moleculeJAK/CDK6 inhibitor
CHEMBL1336SorafenibSmall moleculeMulti-kinase inhibitor
CHEMBL2028663DabrafenibSmall moleculeBRAF/CDK6 inhibitor
Phase 3 Clinical Trials - 6 compounds
ChEMBL IDDrug NameType
CHEMBL2103840DinaciclibSmall molecule
CHEMBL3904602LerociclibSmall molecule
CHEMBL428690Alvocidib (Flavopiridol)Small molecule
CHEMBL50QuercetinNatural product
CHEMBL522892DovitinibSmall molecule
CHEMBL603469LestaurtinibSmall molecule
Phase 2 Clinical Trials
ChEMBL IDDrug Name
CHEMBL14762Seliciclib (Roscovitine)
CHEMBL1944698Zotiraciclib
CHEMBL31574Fisetin
PharmGKB Pharmacogenomics
PharmGKB IDSymbolVIP StatusCPIC Guidelines
PA103CDK6Yes (VIP Gene)No
VIP = Very Important Pharmacogene

Section 11: Expression Profiles Tissue Expression Summary (Bgee)

AttributeValue
Expression PatternUbiquitous
Total Tissues with Expression262
Max Expression Score97.02
Average Expression Score75.20
Gold Quality Conditions273
Top 30 Expressing Tissues
RankTissue (UBERON)Expression ScoreQuality
1Adrenal tissue97.02Gold
2Trabecular bone tissue94.70Gold
3Pylorus94.25Gold
4Caput epididymis93.50Gold
5Cardia of stomach92.26Gold
6Cartilage tissue92.05Gold
7Mucosa of paranasal sinus91.10Gold
8Nipple90.80Gold
9Parietal pleura90.43Gold
10Oral cavity90.36Gold
11Mucosa of sigmoid colon90.21Gold
12Inferior vagus X ganglion88.96Gold
13Bone marrow88.90Gold
14Renal medulla88.48Gold
15Colonic epithelium88.20Gold
16Pleura88.18Gold
17Skin of hip88.15Gold
18Cauda epididymis88.01Gold
19Colonic mucosa87.96Gold
20Male germ line stem cell in testis87.70Gold
21Upper leg skin87.47Gold
22Visceral pleura87.43Gold
23Mammalian vulva87.36Gold
24Jejunal mucosa86.84Gold
25Superior surface of tongue86.65Gold
26Mammary duct86.56Gold
27Tibia86.17Gold
28Pigmented layer of retina85.91Gold
29Retina85.89Gold
30Ventricular zone85.70Gold
Single-Cell Expression Data (Total: 12 datasets)
Dataset IDDescriptionCells
E-HCAD-8T cell activation atlas126,870
E-MTAB-8495Human biliary tree160,459
E-CURD-77COVID-19 lymphocyte atlas62,076
E-HCAD-6CD34+ bone marrow cells34,596
E-MTAB-8884CMML stem cells9,386
E-MTAB-10432Post-MI bone vascular niche8,228
E-MTAB-9388Human gastrulation atlas1,195
E-GEOD-75140Cerebral organoids734
E-ENAD-20PDX model (BRAF/MEK)674
E-GEOD-86618IPF lung epithelium540
E-GEOD-100618Haemopoietic progenitors415
E-MTAB-4850Antigen-specific T cells63

Section 12: Disease Associations Mendelian Disease Links

DiseaseDisease IDInheritanceEvidence
Primary Microcephaly 12, Autosomal Recessive (MCPH12)OMIM:616080ARLimited (GenCC)
Autosomal Recessive Primary MicrocephalyORPHANET:2512ARSupportive (Orphanet)
Clinical Description: Mutations in CDK6 resulting in reduced cell proliferation, impaired cell motility and polarity have been identified in patients with primary microcephaly. HPO Phenotype Associations (Total: 23)
HPO IDPhenotype Term
HP:0011451Primary microcephaly
HP:0000252Microcephaly
HP:0000007Autosomal recessive inheritance
HP:0001263Global developmental delay
HP:0001256Mild intellectual disability
HP:0010864Severe intellectual disability
HP:0001510Growth delay
HP:0004322Short stature
HP:0001250Seizure
HP:0001347Hyperreflexia
HP:0001274Agenesis of corpus callosum
HP:0002119Ventriculomegaly
HP:0001302Pachygyria
HP:0009879Simplified gyral pattern
HP:0002282Gray matter heterotopia
HP:0007333Hypoplasia of the frontal lobes
HP:0000340Sloping forehead
HP:0000582Upslanted palpebral fissure
HP:0000219Thin upper lip vermilion
HP:0000076Vesicoureteral reflux
HP:0000122Unilateral renal agenesis
HP:0003103Abnormal cortical bone morphology
HP:0003577Congenital onset
GWAS Trait Associations (Total: 132) Top 30 associations by significance:
TraitStudy IDP-value
Basophil countGCST900023791×10⁻¹⁴¹
Appendicular lean massGCST900000254×10⁻¹⁰⁶
HeightGCST0008178×10⁻⁴⁷
Myeloid white cell countGCST0046263×10⁻⁷³
White blood cell countGCST0059732×10⁻⁷⁰
Sum neutrophil eosinophil countsGCST0046134×10⁻⁶⁴
Granulocyte countGCST0046142×10⁻⁶⁵
Monocyte countGCST0046254×10⁻⁵⁹
Neutrophil countGCST0046291×10⁻⁵⁸
Basophil percentageGCST900023801×10⁻⁵⁴
Eosinophil countGCST900023815×10⁻⁴⁹
Neutrophil countGCST0059744×10⁻⁴⁶
Hip circumference (BMI adj)GCST0122274×10⁻³⁷
Pulse pressureGCST0072692×10⁻³²
Basophil countGCST0046185×10⁻³¹
HeightGCST0088396×10⁻³⁰
Monocyte percentageGCST0046096×10⁻²⁸
Granulocyte percentageGCST0046082×10⁻²⁸
Lymphocyte percentageGCST0046322×10⁻²⁷
Heel bone mineral densityGCST0069795×10⁻²⁷
Pulse pressureGCST0070966×10⁻²⁵
Hip circumference (BMI adj)GCST0122272×10⁻²⁹
Waist circumference (BMI adj)GCST0122261×10⁻¹⁹
Body fat distributionGCST0072943×10⁻¹⁹
Eosinophil countGCST0046062×10⁻¹⁸
HeightGCST0081634×10⁻¹⁸
Monocyte countGCST0059777×10⁻¹⁸
Eosinophil countGCST0059755×10⁻¹⁷
Body fat distribution (leg)GCST0072956×10⁻¹⁷
White blood cell countGCST0046102×10⁻⁶⁵
Key GWAS Trait Categories:
  • Hematological traits: White blood cell counts, neutrophil/basophil/eosinophil counts
  • Anthropometric traits: Height, body composition, hip/waist circumference
  • Cardiovascular: Blood pressure, pulse pressure, atrial fibrillation
  • Skeletal: Bone mineral density
  • Autoimmune: Rheumatoid arthritis

SUMMARY STATISTICS

CategoryCount
Total database cross-references~16,000+
Ensembl transcripts12
RefSeq transcripts (human)4 (2 mRNA, 2 protein)
PDB structures22
ClinVar variants53
SpliceAI predictions2,308
AlphaMissense predictions2,126
GO annotations48
Reactome pathways9
STRING interactions6,068+
IntAct interactions281+
ChEMBL targeting molecules100+
FDA-approved drugs6
GWAS associations132
HPO phenotypes23
Expression tissues262
Single-cell datasets12

Reference compiled from: HGNC, Ensembl, NCBI Entrez, UniProt, PDB, AlphaFold, ClinVar, SpliceAI, AlphaMissense, Reactome, Gene Ontology, STRING, IntAct, BioGRID, ChEMBL, PharmGKB, Bgee, GWAS Catalog, HPO, OMIM, Orphanet, GenCC, CollecTRI, and Single Cell Expression Atlas.