CDKN2A

cyclin-dependent kinase inhibitor 2ACycline-dependent kinase inhibitor 2Ap16Ink4a
CDKN2A, also known as cyclin-dependent kinase Inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3.wikipedia
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P16

CDKN2Ap16INK4ap16 INK4a
The gene codes for two proteins, including the INK4 family member p16 (or p16INK4a) and p14arf.
It is encoded by the CDKN2A gene.

Melanoma

malignant melanomametastatic melanomamelanomas
Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer.
Loss-of-function mutations often affect tumor suppressor genes such as NF1, TP53 and CDKN2A.

Pancreatic cancer

pancreaticpancreaspancreatic carcinoma
Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer.
Four genes have each been found to be mutated in the majority of adenocarcinomas: KRAS (in 95% of cases), CDKN2A (also in 95%), TP53 (75%), and SMAD4 (55%).

Gene

genesnumber of genesgene sequence
CDKN2A, also known as cyclin-dependent kinase Inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3.

Chromosome 9

9Chromosome 9 (human)9q34
CDKN2A, also known as cyclin-dependent kinase Inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3.

Protein

proteinsproteinaceousstructural proteins
The gene codes for two proteins, including the INK4 family member p16 (or p16INK4a) and p14arf.

INK4

INK4 familyink4 locus
The gene codes for two proteins, including the INK4 family member p16 (or p16INK4a) and p14arf.

Tumor suppressor

tumor suppressor genetumor suppressor genestumour suppressor gene
Both act as tumor suppressors by regulating the cell cycle.

Cell cycle

M phasecell cycle progressioncell-cycle
Both act as tumor suppressors by regulating the cell cycle.

Cyclin-dependent kinase 6

CDK66/6
p16 inhibits cyclin dependent kinases 4 and 6 (CDK4 and CDK6) and thereby activates the retinoblastoma (Rb) family of proteins, which block traversal from G1 to S-phase.

Retinoblastoma protein

RB1RbpRb
p16 inhibits cyclin dependent kinases 4 and 6 (CDK4 and CDK6) and thereby activates the retinoblastoma (Rb) family of proteins, which block traversal from G1 to S-phase.

G1 phase

G1G 1 phaseG 1
p16 inhibits cyclin dependent kinases 4 and 6 (CDK4 and CDK6) and thereby activates the retinoblastoma (Rb) family of proteins, which block traversal from G1 to S-phase.

S phase

S-phaseSsynthesis phase
p16 inhibits cyclin dependent kinases 4 and 6 (CDK4 and CDK6) and thereby activates the retinoblastoma (Rb) family of proteins, which block traversal from G1 to S-phase.

P53

TP53p53 genep53 protein
p14ARF (known as p19ARF in the mouse) activates the p53 tumor suppressor.

Glioblastoma

glioblastoma multiformeglioblastomasbrain cancer
Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer.

Single-nucleotide polymorphism

single nucleotide polymorphismSNPSNPs
The CDKN2A gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

Coronary artery disease

coronary heart diseaseischemic heart diseaseischaemic heart disease
The CDKN2A gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

Exon

exonsexons.coding region
The CDKN2A gene resides on chromosome 9 at the band 9p21 and contains 8 exons.

P14arf

p14P14 ARF alternate open reading frame (ARF)
The gene codes for two proteins, including the INK4 family member p16 (or p16INK4a) and p14arf.

Reading frame

reading framesin framein-frame
As a result, they are translated from different reading frames and therefore possess completely different amino acid sequences.

Protein primary structure

amino acid sequenceprotein sequencesequence
As a result, they are translated from different reading frames and therefore possess completely different amino acid sequences.

Protein isoform

isoformsisoformglycoform
In addition to p16 and ARF, this gene produces 4 other isoforms through alternative splicing.

Alternative splicing

alternatively splicedtranscript variantssplice variant
In addition to p16 and ARF, this gene produces 4 other isoforms through alternative splicing.

Cyclin-dependent kinase

CDKcyclin-dependent kinasescyclin dependent kinase
This protein belongs to the CDKN2 cyclin-dependent kinase inhibitor family.

Ankyrin

ankyrin repeatsANK2ankyrin repeats domain
p16 comprises four ankyrin repeats, each spanning a length of 33 amino acid residues and, in the tertiary structure, forming a helix-turn-helix motif.