We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
CDKN2A
SECTIONS
  • TISSUE
  • BRAIN
  • SINGLE CELL TYPE
  • TISSUE CELL TYPE
  • PATHOLOGY
  • DISEASE
  • IMMUNE CELL
  • BLOOD PROTEIN
  • SUBCELLULAR
  • CELL LINE
  • STRUCTURE
  • METABOLIC
ABOUT
  • INTRODUCTION
  • HISTORY
  • ORGANIZATION
  • PUBLICATIONS
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • ACKNOWLEDGMENTS
  • CONTACT
NEWS
  • NEWS ARTICLES
  • PRESS ROOM
LEARN
  • DICTIONARY
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
  • METHODS
  • EDUCATIONAL VIDEOS
DATA
  • DOWNLOADABLE DATA
  • PUBLICATION DATA
  • RELEASE HISTORY
  • SARS-COV-2
HELP
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • HELP & FAQ
  • PRIVACY STATEMENT
  • LICENCE & CITATION
Fields »
Search result

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Patient ID
Tissue
Category
Cluster
Reliability
Brain region
Category
Brain region
Category
Brain region
Category
Reliability
Cell type
Category
Cluster
Tissue
Cell type
Enrichment
Cancer
Prognosis
Cancer
Category
Cell type
Category
Cell lineage
Category
Cluster
Annotation
Disease
Location
Searches
Location
Cell line
Type
Phase
Reliability
Cancer type
Category
Cluster
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Protein structure
In atlas
Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • TISSUE CELL

  • PATHOLOGY

  • DISEASE

  • IMMUNE

  • BLOOD

  • SUBCELL

  • CELL LINE

  • STRUCTURE

  • METABOLIC

  • CDKN2A
PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA
Amygdala Basal ganglia Thalamus Midbrain Pons Medulla oblongata Hippocampal formation Spinal cord White matter Cerebral cortex Cerebellum Choroid plexus Hypothalamus Retina Thyroid gland Parathyroid gland Adrenal gland Pituitary gland Lung Salivary gland Esophagus Tongue Stomach Rectum Duodenum Colon Small intestine Liver Gallbladder Pancreas Kidney Urinary bladder Testis Epididymis Prostate Seminal vesicle Vagina Breast Cervix Endometrium Fallopian tube Ovary Placenta Heart muscle Skeletal muscle Smooth muscle Adipose tissue Skin Bone marrow Appendix Thymus Lymph node Tonsil Spleen
CDKN2A INFORMATION
Proteini

Full gene name according to HGNC.

Cyclin dependent kinase inhibitor 2A
Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

CDKN2A (ARF, CDK4I, CDKN2, CMM2, INK4, INK4a, MLM, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf)
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

10
Protein evidence Evidence at protein level (all genes)
PROTEIN EXPRESSION AND LOCALIZATION
Tissue profilei

A summary of the overall protein expression profile across the analyzed normal tissues based on knowledge-based annotation, presented in the Tissue section.

"Estimation of protein expression could not be performed. View primary data." is shown for genes where available RNA-seq and gene/protein characterization data in combination with immunohistochemistry data has been evaluated as not sufficient to yield a reliable estimation of the protein expression profile.
Mainly nuclear expression in most tissues.
Subcellular location Localized to the Nucleoplasm In addition localized to the Cytosol
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular
TISSUE RNA EXPRESSION
Tissue specificityi

The RNA specificity category is based on normalized mRNA expression levels in the consensus dataset, calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Read more
Tissue enhanced (choroid plexus, pituitary gland)
Tissue expression clusteri

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Read more
Pituitary gland - Hormone signaling (mainly)
Brain specificityi

The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category

Read more
Low human brain regional specificity
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Read more
Cell type enhanced (Late spermatids, Early spermatids, Respiratory ciliated cells, Basal respiratory cells, Ionocytes)
Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Read more
Pancreatic cells - Mixed function (mainly)
Tissue cell type classificationi

Genes can have enriched specificity in different cell types in one or several tissues, or be enriched in a core cell type that appears in many different tissues.

Read more
Cell type enriched (Skin - Outer root sheath cells, Testis - Early spermatids, Testis - Late spermatids)
IMMUNE CELLS
Immune cell specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Read more
Immune cell enhanced (T-reg)
Immune cell
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Read more
T-regs - Cell cycle regulation (mainly)
CANCER & CELL LINES
Prognostic summary Prognostic marker in endometrial cancer (unfavorable), renal cancer (unfavorable), liver cancer (unfavorable) and head and neck cancer (favorable) Endometrial cancer p<0.001
Cancer specificityi

Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected.

Read more
Cancer enhanced (cervical cancer, ovarian cancer)
Cell line
expression clusteri

The RNA data was used to cluster genes according to their expression across cell lines. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Read more
Non-specific - RNA binding (mainly)
Cell line specificityi

RNA specificity category based on RNA sequencing data from cancer cell lines in the Human Protein Atlas grouped according to type of cancer. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.

Read more
Cancer enhanced (Cervical cancer)
PROTEINS IN BLOOD
Detected in blood by
immunoassayi

The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search.

Read more
No (not applicable)
Detected in blood by
mass spectrometryi

Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics data set obtained from the PeptideAtlas.

Yes
Detected in blood by
proximity extension assayi

Detection or not of the gene in blood, based on proximity extension assays (Olink) for a longitudinal wellness study covering 76 individuals with three visits during two years.

Read more
No
PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. [P42771]
Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Plays a role in inhibiting ribosome biogenesis, perhaps by binding to the nucleolar localization sequence of transcription termination factor TTF1, and thereby preventing nucleolar localization of TTF1 (By similarity). Interacts with COMMD1 and promotes its 'Lys63'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development. [Q8N726]
... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

DNA-binding [Q8N726]
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cell cycle [P42771]
Apoptosis, Cell cycle, rRNA processing, Transcription, Transcription regulation, Ubl conjugation pathway [Q8N726]
Disease involvementi

Disease related keywords assigned by UniProt combined with Cancer-related genes and FDA approved drug targets

Read more
Cancer-related genes, Disease variant, Li-Fraumeni syndrome, Tumor suppressor
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]... show less

Contact

  • NEWS ARTICLES
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS

The Human Protein Atlas

  • DOWNLOADABLE DATA
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.