CDK4
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDK4 (HGNC:1773) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cyclin dependent kinase 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PSK-J3
%HI
1.03(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.56(Read more about gnomAD pLI score)
LOEUF
0.61(Read more about gnomAD LOEUF score)
Cytoband
12q14.1
Genomic Coordinates
GRCh37/hg19: chr12:58141510-58146093 NCBI Ensembl UCSC
GRCh38/hg38: chr12:57747727-57752310 NCBI Ensembl UCSC
MANE Select Transcript
NM_000075.4 ENST00000257904.11 (Read more about MANE Select)
Function
Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are ma... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23657
ClinGen Curation ID:
CCID:006824
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/02/2020

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Melanoma, cutaneous malignant, susceptibility to, 3; cmm3 Monarch
HI Evidence Comments:
CDK4 is a familial melanoma gene. Gain of function mutations, particularly at codon 24 of exon 2, function as dominant oncogene (see Puntervoll et al., (2013)(PMID 23384855)).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence for triplosensitivity

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)