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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| CDKN2A | 1029 | cyclin-dependent kinase inhibitor 2A | 9 | CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf, p14ARF |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 11861396 | 2002 | Cell line : - Source : - Sample Type : CRC tumor and Normal tissue No. of Sample : 40 Stage : TNM stage I-IV | Bisulfite Sequencing, Methylation specific PCR | Methylation | - | Methylation of p14(ARF) is a relatively common early event in UC-associated carcinogenesis. p14(ARF) offers potential as a biomarker for the early detection of cancer or dysplasia in UC. p14(ARF) methylation was observed in 19 of 38 (50%) adenocarcinomas, 4 of 12 (33%) dysplasias, and 3 of the 5 (60%) nonneoplastic UC mucosae. |
| 24979649 | 2014 | Cell line : - Source : - Sample Type : CRC tumor and Normal tissue No. of Sample : 3311 Stage : - | Meta-analysis | Methylation | - | p16 gene promoter methylation may be a potential biomarker for CRC. Promoter methylation of the p16 gene may be strongly correlated with the clinicopathologic features of CRC |
| 26363785 | 2015 | Cell line : - Source : Oncology Control Center Foundation of Amazonas State (FCECON). Sample Type : CRC tumor and normal tissue No. of Sample : - Stage : - | Methylation specific PCR | Methylation | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | |
| Description | 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. |
| Chromosome | 9 |
| Location | 9p21 |
| Start | 21967752 |
| End | 21995043 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 27292 |
| OMIM ID | 600160 |
| HGNC ID | HGNC:1787 |
| Unigene ID | Hs.512599 |
| Ensembl ID | ENSG00000147889 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | XM_011517679.1 |
|---|---|
| Exon | join(1..223,23836..24142,26802..27292) | mRNA Sequence | Download Select all |
| Length | 1267 |
CDS Information
| Location | join(20217..20366,23836..24142,26802..26815) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS6510.1 |
Protein Information
| Protein ID | NP_000068.1 |
|---|---|
| Protein Name | cyclin-dependent kinase inhibitor 2A |
| Molecular Wt. (Da) | 16402 |
| Protein Sequence | Download Select all |
| Length | 156 |
| Uniprot ID | P34947 |
| Ensembl Protein ID | ENSP00000376609 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 1019 | CDK4 | 447 | NP_000066.1 | in vitro;in vivo | 92 280 641 523 210 600 000 000 |
| 1869 | E2F1 | 1806 | NP_005216.1 | in vitro | 11314038 |
| 2935 | GSPT1 | 753 | NP_002085.2 | in vitro;in vivo;yeast 2-hybrid | 16582619 |
| 3091 | HIF1A | 4517 | NP_001521.1 | in vivo | 11382768 |
| 3326 | HSP90AB1 | 6763 | NP_031381.2 | in vitro;yeast 2-hybrid | 16582619 |
| 4171 | MCM2 | 303 | NP_004517.2 | in vitro | 15232106 |
| 4193 | MDM2 | 1272 | NP_002383.2 | in vitro;in vivo;yeast 2-hybrid | 1 208 522 895 292 480 000 000 |
| 4609 | MYC | 1818 | NP_002458.2 | in vivo | 15361884 |
| 4691 | NCL | 1245 | NP_005372.2 | in vitro;in vivo;yeast 2-hybrid | 16582619 |
| 5824 | PEX19 | 2610 | NP_002848.1 | yeast 2-hybrid | 16582619 |
| 6201 | RPS7 | 4712 | NP_001002.1 | yeast 2-hybrid | 16582619 |
| 7167 | TPI1 | 1833 | NP_000356.1 | yeast 2-hybrid | 16582619 |
| 7319 | UBE2A | 2422 | NP_003327.2 | in vivo | 12640129 |
| 7486 | WRN | 5212 | NP_000544.2 | in vitro;in vivo | 15355988 |
| 7770 | ZNF227 | 15752 | NP_872296.1 | yeast 2-hybrid | 16582619 |
| 23253 | ANKRD12 | 12457 | NP_056023.3 | in vitro;yeast 2-hybrid | 16582619 |
| 51053 | GMNN | 6783 | NP_056979.1 | in vitro | 15232106 |
| 79026 | AHNAK | 14684 | NP_001611.1 | yeast 2-hybrid | 16582619 |
| 80829 | ZFP91 | 11700 | NP_444251.1 | in vitro;yeast 2-hybrid | 16582619 |
| 84897 | TBRG1 | 15477 | NP_116200.2 | in vitro;in vivo;yeast 2-hybrid | 16582619 |
| 84960 | KIAA1984 | 17234 | NP_001034463.3 | in vitro;in vivo;yeast 2-hybrid | 16582619 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Bladder cancer | hsa05219 |
| Cell cycle | hsa04110 |
| Chronic myeloid leukemia | hsa05220 |
| Glioma | hsa05214 |
| HTLV-I infection | hsa05166 |
| Melanoma | hsa05218 |
| MicroRNAs in cancer | hsa05206 |
| Non-small cell lung cancer | hsa05223 |
| p53 signaling pathway | hsa04115 |
| Pancreatic cancer | hsa05212 |
| Pathways in cancer | hsa05200 |
| Viral carcinogenesis | hsa05203 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00204 | 19-130 | ANK |
| cl02529 | 19-130 | ANK superfamily |
| cd00204 | 16-64 | ANK |
| cd00204 | 81-130 | ANK |
| pfam12796 | 16-108 | Ank_2 |
| COG0666 | 16-151 | ANKYR |
| pfam12796 | 53-130 | Ank_2 |
| PHA03095 | 24-116 | PHA03095 |
| PTZ00322 | 50-156 | PTZ00322 |
| pfam13857 | 63-118 | Ank_5 |
| PHA02876 | 28-118 | PHA02876 |
| PTZ00322 | 16-99 | PTZ00322 |
| PHA02878 | 58-118 | PHA02878 |
| pfam13637 | 16-64 | Ank_4 |
| PLN03192 | Apr-74 | PLN03192 |
| pfam13637 | 79-130 | Ank_4 |
| PHA03095 | 18-130 | PHA03095 |
| PLN03192 | 49-130 | PLN03192 |
| PHA02874 | 26-130 | PHA02874 |
| PHA03095 | 21-118 | PHA03095 |
| PHA02946 | Aug-74 | PHA02946 |
| pfam13857 | 16-50 | Ank_5 |
| pfam07392 | Apr-54 | P19Arf_N |
| cl06435 | Apr-54 | P19Arf_N superfamily |
Ontology Information
| HPRD ID | 679 |
|---|---|
| Molecular Class | Cell cycle control protein |
| Molecular Function | Ligand-dependent nuclear receptor activity (GO:0004879) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.