CDKN2A, mRNA isoform 1 - Generality top
	Primary source RefSeq : NM_000077.3 (GI:47132606) Name Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1 Type of transcript mRNA Organism Homo sapiens Length 1163 nt Map 9p21 Location Chromosome 9 (NC_000009.11)  strand : - 21967750...21968240   21970900...21971206   21974676...21975037
	Exon(s) top
	Exon(s) Start End Length is coding Exon 2a 1 362 362 1 Exon 3 363 669 307 1 Exon 4 670 1160 491 1
	Variation(s) top
	ID Class Location Mutation Length is synonymous Source rs3814960 SNP 22 a/c 1 ? dbSNP rs1800586 SNP 179 g/t 1 ? dbSNP rs36204273 SNP 385 a/g 1 ? dbSNP rs36204594 SNP 391 c/t 1 ? dbSNP rs11552823 SNP 454 c/t 1 ? dbSNP rs34968276 SNP 461 a/c 1 ? dbSNP rs11552822 SNP 462 g/t 1 ? dbSNP rs4987127 SNP 485 a/g 1 ? dbSNP rs34886500 SNP 507 c/t 1 ? dbSNP rs35741010 SNP 516 a/g 1 ? dbSNP rs6413463 SNP 581 a/t 1 ? dbSNP rs34170727 SNP 582 c/t 1 ? dbSNP rs6413464 SNP 591 g/t 1 ? dbSNP rs3731249 SNP 654 a/g 1 ? dbSNP rs45476696 SNP 669 a/g 1 ? dbSNP rs72549205 SNP 687 a/g 1 ? dbSNP rs11515 SNP 712 c/g 1 ? dbSNP rs3088440 SNP 752 c/t 1 ? dbSNP rs3731253 SNP 959 c/g 1 ? dbSNP rs72549244 SNP 988 a/g 1 ? dbSNP rs3731255 SNP 1056 c/g 1 ? dbSNP rs3731254 insertion 963 -/ca 2 ? dbSNP
	CDS top
	Primary source NCBI : CCDS6510 Nucleotide CDKN2A, mRNA isoform 1[NM_000077.3] : 213...683 Length 471 Location Chromosome 9 (NC_000009.11)  strand : - 21968227...21968240   21970900...21971206   21974676...21974825   Start codon 1 Translation NP_000068.1
	Sequence top
	FASTA 1  CTCCTCCGAG CACTCGCTCA CGGCGTCCCC TTGCCTGGAA AGATACCGCG GTCCCTCCAG AGGATTTGAG GGACAGGGTC 81  GGAGGGGGCT CTTCCGCCAG CACCGGAGGA AGAAAGAGGA GGGGCTGGCT GGTCACCAGA GGGTGGGGCG GACCGCGTGC 161  GCTCGGCGGC TGCGGAGAGG GGGAGAGCAG GCAGCGGGCG GCGGGGAGCA GCATGGAGCC GGCGGCGGGG AGCAGCATGG 241  AGCCTTCGGC TGACTGGCTG GCCACGGCCG CGGCCCGGGG TCGGGTAGAG GAGGTGCGGG CGCTGCTGGA GGCGGGGGCG 321  CTGCCCAACG CACCGAATAG TTACGGTCGG AGGCCGATCC AGGTCATGAT GATGGGCAGC GCCCGAGTGG CGGAGCTGCT 401  GCTGCTCCAC GGCGCGGAGC CCAACTGCGC CGACCCCGCC ACTCTCACCC GACCCGTGCA CGACGCTGCC CGGGAGGGCT 481  TCCTGGACAC GCTGGTGGTG CTGCACCGGG CCGGGGCGCG GCTGGACGTG CGCGATGCCT GGGGCCGTCT GCCCGTGGAC 561  CTGGCTGAGG AGCTGGGCCA TCGCGATGTC GCACGGTACC TGCGCGCGGC TGCGGGGGGC ACCAGAGGCA GTAACCATGC 641  CCGCATAGAT GCCGCGGAAG GTCCCTCAGA CATCCCCGAT TGAAAGAACC AGAGAGGCTC TGAGAAACCT CGGGAAACTT 721  AGATCATCAG TCACCGAAGG TCCTACAGGG CCACAACTGC CCCCGCCACA ACCCACCCCG CTTTCGTAGT TTTCATTTAG 801  AAAATAGAGC TTTTAAAAAT GTCCTGCCTT TTAACGTAGA TATATGCCTT CCCCCACTAC CGTAAATGTC CATTTATATC 881  ATTTTTTATA TATTCTTATA AAAATGTAAA AAAGAAAAAC ACCGCTTCTG CCTTTTCACT GTGTTGGAGT TTTCTGGAGT 961  GAGCACTCAC GCCCTAAGCG CACATTCATG TGGGCATTTC TTGCGAGCCT CGCAGCCTCC GGAAGCTGTC GACTTCATGA 1041  CAAGCATTTT GTGAACTAGG GAAGCTCAGG GGGGTTACTG GCTTCTCTTG AGTCACACTG CTAGCAAATG GCAGAACCAA 1121  AGCTCAAATA AAAATAAAAT AATTTTCATT CATTCACTCA AAA >gi|47132606|ref|NM_000077.3|Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1 CTCCTCCGAGCACTCGCTCACGGCGTCCCCTTGCCTGGAAAGATACCGCGGTCCCTCCAGAGGATTTGAGGGACAGGGTC GGAGGGGGCTCTTCCGCCAGCACCGGAGGAAGAAAGAGGAGGGGCTGGCTGGTCACCAGAGGGTGGGGCGGACCGCGTGC GCTCGGCGGCTGCGGAGAGGGGGAGAGCAGGCAGCGGGCGGCGGGGAGCAGCATGGAGCCGGCGGCGGGGAGCAGCATGG AGCCTTCGGCTGACTGGCTGGCCACGGCCGCGGCCCGGGGTCGGGTAGAGGAGGTGCGGGCGCTGCTGGAGGCGGGGGCG CTGCCCAACGCACCGAATAGTTACGGTCGGAGGCCGATCCAGGTCATGATGATGGGCAGCGCCCGAGTGGCGGAGCTGCT GCTGCTCCACGGCGCGGAGCCCAACTGCGCCGACCCCGCCACTCTCACCCGACCCGTGCACGACGCTGCCCGGGAGGGCT TCCTGGACACGCTGGTGGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCTGGGGCCGTCTGCCCGTGGAC CTGGCTGAGGAGCTGGGCCATCGCGATGTCGCACGGTACCTGCGCGCGGCTGCGGGGGGCACCAGAGGCAGTAACCATGC CCGCATAGATGCCGCGGAAGGTCCCTCAGACATCCCCGATTGAAAGAACCAGAGAGGCTCTGAGAAACCTCGGGAAACTT AGATCATCAGTCACCGAAGGTCCTACAGGGCCACAACTGCCCCCGCCACAACCCACCCCGCTTTCGTAGTTTTCATTTAG AAAATAGAGCTTTTAAAAATGTCCTGCCTTTTAACGTAGATATATGCCTTCCCCCACTACCGTAAATGTCCATTTATATC ATTTTTTATATATTCTTATAAAAATGTAAAAAAGAAAAACACCGCTTCTGCCTTTTCACTGTGTTGGAGTTTTCTGGAGT GAGCACTCACGCCCTAAGCGCACATTCATGTGGGCATTTCTTGCGAGCCTCGCAGCCTCCGGAAGCTGTCGACTTCATGA CAAGCATTTTGTGAACTAGGGAAGCTCAGGGGGGTTACTGGCTTCTCTTGAGTCACACTGCTAGCAAATGGCAGAACCAA AGCTCAAATAAAAATAAAATAATTTTCATTCATTCACTCAAAA

	CDKN2A, mRNA isoform 3 - Generality top
	Primary source RefSeq : NM_058197.3 (GI:98985803) Name Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 3 Type of transcript mRNA Organism Homo sapiens Length 1437 nt Map 9p21 Location Chromosome 9 (NC_000009.11)  strand : - 21967750...21968240   21970900...21971206   21974402...21975037
	Exon(s) top
	Exon(s) Start End Length is coding Exon 2b 1 636 636 1 Exon 3 637 943 307 1 Exon 4 944 1434 491 1
	Variation(s) top
	ID Class Location Mutation Length is synonymous Source rs45456595 SNP 399 c/g 1 ? dbSNP rs66666647 insertion 475 -/t 1 ? dbSNP
	CDS top
	Primary source NCBI : CCDS34998 Nucleotide CDKN2A, mRNA isoform 3[NM_058197.3] : 213...563 Length 351 Location Chromosome 9 (NC_000009.11)  strand : - 21974475...21974825   Start codon 1 Translation NP_478104.2
	Sequence top
	FASTA 1  CTCCTCCGAG CACTCGCTCA CGGCGTCCCC TTGCCTGGAA AGATACCGCG GTCCCTCCAG AGGATTTGAG GGACAGGGTC 81  GGAGGGGGCT CTTCCGCCAG CACCGGAGGA AGAAAGAGGA GGGGCTGGCT GGTCACCAGA GGGTGGGGCG GACCGCGTGC 161  GCTCGGCGGC TGCGGAGAGG GGGAGAGCAG GCAGCGGGCG GCGGGGAGCA GCATGGAGCC GGCGGCGGGG AGCAGCATGG 241  AGCCTTCGGC TGACTGGCTG GCCACGGCCG CGGCCCGGGG TCGGGTAGAG GAGGTGCGGG CGCTGCTGGA GGCGGGGGCG 321  CTGCCCAACG CACCGAATAG TTACGGTCGG AGGCCGATCC AGGTGGGTAG AGGGTCTGCA GCGGGAGCAG GGGATGGCGG 401  GCGACTCTGG AGGACGAAGT TTGCAGGGGA ATTGGAATCA GGTAGCGCTT CGATTCTCCG GAAAAAGGGG AGGCTTCCTG 481  GGGAGTTTTC AGAAGGGGTT TGTAATCACA GACCTCCTCC TGGCGACGCC CTGGGGGCTT GGGAAGCCAA GGAAGAGGAA 561  TGAGGAGCCA CGCGCGTACA GATCTCTCGA ATGCTGAGAA GATCTGAAGG GGGGAACATA TTTGTATTAG ATGGAAGTCA 641  TGATGATGGG CAGCGCCCGA GTGGCGGAGC TGCTGCTGCT CCACGGCGCG GAGCCCAACT GCGCCGACCC CGCCACTCTC 721  ACCCGACCCG TGCACGACGC TGCCCGGGAG GGCTTCCTGG ACACGCTGGT GGTGCTGCAC CGGGCCGGGG CGCGGCTGGA 801  CGTGCGCGAT GCCTGGGGCC GTCTGCCCGT GGACCTGGCT GAGGAGCTGG GCCATCGCGA TGTCGCACGG TACCTGCGCG 881  CGGCTGCGGG GGGCACCAGA GGCAGTAACC ATGCCCGCAT AGATGCCGCG GAAGGTCCCT CAGACATCCC CGATTGAAAG 961  AACCAGAGAG GCTCTGAGAA ACCTCGGGAA ACTTAGATCA TCAGTCACCG AAGGTCCTAC AGGGCCACAA CTGCCCCCGC 1041  CACAACCCAC CCCGCTTTCG TAGTTTTCAT TTAGAAAATA GAGCTTTTAA AAATGTCCTG CCTTTTAACG TAGATATATG 1121  CCTTCCCCCA CTACCGTAAA TGTCCATTTA TATCATTTTT TATATATTCT TATAAAAATG TAAAAAAGAA AAACACCGCT 1201  TCTGCCTTTT CACTGTGTTG GAGTTTTCTG GAGTGAGCAC TCACGCCCTA AGCGCACATT CATGTGGGCA TTTCTTGCGA 1281  GCCTCGCAGC CTCCGGAAGC TGTCGACTTC ATGACAAGCA TTTTGTGAAC TAGGGAAGCT CAGGGGGGTT ACTGGCTTCT 1361  CTTGAGTCAC ACTGCTAGCA AATGGCAGAA CCAAAGCTCA AATAAAAATA AAATAATTTT CATTCATTCA CTCAAAA >gi|98985803|ref|NM_058197.3|Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 3 CTCCTCCGAGCACTCGCTCACGGCGTCCCCTTGCCTGGAAAGATACCGCGGTCCCTCCAGAGGATTTGAGGGACAGGGTC GGAGGGGGCTCTTCCGCCAGCACCGGAGGAAGAAAGAGGAGGGGCTGGCTGGTCACCAGAGGGTGGGGCGGACCGCGTGC GCTCGGCGGCTGCGGAGAGGGGGAGAGCAGGCAGCGGGCGGCGGGGAGCAGCATGGAGCCGGCGGCGGGGAGCAGCATGG AGCCTTCGGCTGACTGGCTGGCCACGGCCGCGGCCCGGGGTCGGGTAGAGGAGGTGCGGGCGCTGCTGGAGGCGGGGGCG CTGCCCAACGCACCGAATAGTTACGGTCGGAGGCCGATCCAGGTGGGTAGAGGGTCTGCAGCGGGAGCAGGGGATGGCGG GCGACTCTGGAGGACGAAGTTTGCAGGGGAATTGGAATCAGGTAGCGCTTCGATTCTCCGGAAAAAGGGGAGGCTTCCTG GGGAGTTTTCAGAAGGGGTTTGTAATCACAGACCTCCTCCTGGCGACGCCCTGGGGGCTTGGGAAGCCAAGGAAGAGGAA TGAGGAGCCACGCGCGTACAGATCTCTCGAATGCTGAGAAGATCTGAAGGGGGGAACATATTTGTATTAGATGGAAGTCA TGATGATGGGCAGCGCCCGAGTGGCGGAGCTGCTGCTGCTCCACGGCGCGGAGCCCAACTGCGCCGACCCCGCCACTCTC ACCCGACCCGTGCACGACGCTGCCCGGGAGGGCTTCCTGGACACGCTGGTGGTGCTGCACCGGGCCGGGGCGCGGCTGGA CGTGCGCGATGCCTGGGGCCGTCTGCCCGTGGACCTGGCTGAGGAGCTGGGCCATCGCGATGTCGCACGGTACCTGCGCG CGGCTGCGGGGGGCACCAGAGGCAGTAACCATGCCCGCATAGATGCCGCGGAAGGTCCCTCAGACATCCCCGATTGAAAG AACCAGAGAGGCTCTGAGAAACCTCGGGAAACTTAGATCATCAGTCACCGAAGGTCCTACAGGGCCACAACTGCCCCCGC CACAACCCACCCCGCTTTCGTAGTTTTCATTTAGAAAATAGAGCTTTTAAAAATGTCCTGCCTTTTAACGTAGATATATG CCTTCCCCCACTACCGTAAATGTCCATTTATATCATTTTTTATATATTCTTATAAAAATGTAAAAAAGAAAAACACCGCT TCTGCCTTTTCACTGTGTTGGAGTTTTCTGGAGTGAGCACTCACGCCCTAAGCGCACATTCATGTGGGCATTTCTTGCGA GCCTCGCAGCCTCCGGAAGCTGTCGACTTCATGACAAGCATTTTGTGAACTAGGGAAGCTCAGGGGGGTTACTGGCTTCT CTTGAGTCACACTGCTAGCAAATGGCAGAACCAAAGCTCAAATAAAAATAAAATAATTTTCATTCATTCACTCAAAA

	CDKN2A, mRNA isoform 4 - Generality top
	Primary source RefSeq : NM_058195.2 (GI:47132605) Name Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 4 Type of transcript mRNA Organism Homo sapiens Length 1154 nt Map 9p21 Location Chromosome 9 (NC_000009.11)  strand : - 21967750...21968240   21970900...21971206   21994137...21994489
	Exon(s) top
	Exon(s) Start End Length is coding Exon 1 1 353 353 1 Exon 3 354 660 307 1 Exon 4 661 1151 491 1
	Variation(s) top
	ID Class Location Mutation Length is synonymous Source rs71506711 SNP 49 c/g 1 ? dbSNP rs1801022 SNP 144 c/t 1 ? dbSNP rs3731190 SNP 209 c/t 1 ? dbSNP
	CDS top
	Primary source NCBI : CCDS6511 Nucleotide CDKN2A, mRNA isoform 4[NM_058195.2] : 38...559 Length 522 Location Chromosome 9 (NC_000009.11)  strand : - 21971001...21971206   21994137...21994452   Start codon 1 Translation NP_478102.1
	Sequence top
	FASTA 1  CGCTCAGGGA AGGCGGGTGC GCGCCTGCGG GGCGGAGATG GGCAGGGGGC GGTGCGTGGG TCCCAGTCTG CAGTTAAGGG 81  GGCAGGAGTG GCGCTGCTCA CCTCTGGTGC CAAAGGGCGG CGCAGCGGCT GCCGAGCTCG GCCCTGGAGG CGGCGAGAAC 161  ATGGTGCGCA GGTTCTTGGT GACCCTCCGG ATTCGGCGCG CGTGCGGCCC GCCGCGAGTG AGGGTTTTCG TGGTTCACAT 241  CCCGCGGCTC ACGGGGGAGT GGGCAGCGCC AGGGGCGCCC GCCGCTGTGG CCCTCGTGCT GATGCTACTG AGGAGCCAGC 321  GTCTAGGGCA GCAGCCGCTT CCTAGAAGAC CAGGTCATGA TGATGGGCAG CGCCCGAGTG GCGGAGCTGC TGCTGCTCCA 401  CGGCGCGGAG CCCAACTGCG CCGACCCCGC CACTCTCACC CGACCCGTGC ACGACGCTGC CCGGGAGGGC TTCCTGGACA 481  CGCTGGTGGT GCTGCACCGG GCCGGGGCGC GGCTGGACGT GCGCGATGCC TGGGGCCGTC TGCCCGTGGA CCTGGCTGAG 561  GAGCTGGGCC ATCGCGATGT CGCACGGTAC CTGCGCGCGG CTGCGGGGGG CACCAGAGGC AGTAACCATG CCCGCATAGA 641  TGCCGCGGAA GGTCCCTCAG ACATCCCCGA TTGAAAGAAC CAGAGAGGCT CTGAGAAACC TCGGGAAACT TAGATCATCA 721  GTCACCGAAG GTCCTACAGG GCCACAACTG CCCCCGCCAC AACCCACCCC GCTTTCGTAG TTTTCATTTA GAAAATAGAG 801  CTTTTAAAAA TGTCCTGCCT TTTAACGTAG ATATATGCCT TCCCCCACTA CCGTAAATGT CCATTTATAT CATTTTTTAT 881  ATATTCTTAT AAAAATGTAA AAAAGAAAAA CACCGCTTCT GCCTTTTCAC TGTGTTGGAG TTTTCTGGAG TGAGCACTCA 961  CGCCCTAAGC GCACATTCAT GTGGGCATTT CTTGCGAGCC TCGCAGCCTC CGGAAGCTGT CGACTTCATG ACAAGCATTT 1041  TGTGAACTAG GGAAGCTCAG GGGGGTTACT GGCTTCTCTT GAGTCACACT GCTAGCAAAT GGCAGAACCA AAGCTCAAAT 1121  AAAAATAAAA TAATTTTCAT TCATTCACTC AAAA >gi|47132605|ref|NM_058195.2|Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 4 CGCTCAGGGAAGGCGGGTGCGCGCCTGCGGGGCGGAGATGGGCAGGGGGCGGTGCGTGGGTCCCAGTCTGCAGTTAAGGG GGCAGGAGTGGCGCTGCTCACCTCTGGTGCCAAAGGGCGGCGCAGCGGCTGCCGAGCTCGGCCCTGGAGGCGGCGAGAAC ATGGTGCGCAGGTTCTTGGTGACCCTCCGGATTCGGCGCGCGTGCGGCCCGCCGCGAGTGAGGGTTTTCGTGGTTCACAT CCCGCGGCTCACGGGGGAGTGGGCAGCGCCAGGGGCGCCCGCCGCTGTGGCCCTCGTGCTGATGCTACTGAGGAGCCAGC GTCTAGGGCAGCAGCCGCTTCCTAGAAGACCAGGTCATGATGATGGGCAGCGCCCGAGTGGCGGAGCTGCTGCTGCTCCA CGGCGCGGAGCCCAACTGCGCCGACCCCGCCACTCTCACCCGACCCGTGCACGACGCTGCCCGGGAGGGCTTCCTGGACA CGCTGGTGGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCTGGGGCCGTCTGCCCGTGGACCTGGCTGAG GAGCTGGGCCATCGCGATGTCGCACGGTACCTGCGCGCGGCTGCGGGGGGCACCAGAGGCAGTAACCATGCCCGCATAGA TGCCGCGGAAGGTCCCTCAGACATCCCCGATTGAAAGAACCAGAGAGGCTCTGAGAAACCTCGGGAAACTTAGATCATCA GTCACCGAAGGTCCTACAGGGCCACAACTGCCCCCGCCACAACCCACCCCGCTTTCGTAGTTTTCATTTAGAAAATAGAG CTTTTAAAAATGTCCTGCCTTTTAACGTAGATATATGCCTTCCCCCACTACCGTAAATGTCCATTTATATCATTTTTTAT ATATTCTTATAAAAATGTAAAAAAGAAAAACACCGCTTCTGCCTTTTCACTGTGTTGGAGTTTTCTGGAGTGAGCACTCA CGCCCTAAGCGCACATTCATGTGGGCATTTCTTGCGAGCCTCGCAGCCTCCGGAAGCTGTCGACTTCATGACAAGCATTT TGTGAACTAGGGAAGCTCAGGGGGGTTACTGGCTTCTCTTGAGTCACACTGCTAGCAAATGGCAGAACCAAAGCTCAAAT AAAAATAAAATAATTTTCATTCATTCACTCAAAA

	Q8N726 - Generality top
	Primary source Uniprot : Q8N726 Name Cyclin-dependent kinase inhibitor 2A, isoform 4 Alternative name(s) p14ARF p19ARF Synonym(s) Organism Homo sapiens Length 173 aa Protein existence ---
	External Links top
	ArrayExpress Q8N726   Refseq NP_478102.1   NP_000068.1   Uniprot Q8N726   EBI EBI-625922   InterPro IPR010868   KEGG hsa:1029   Pfam PF07392
	General annotation (Comments) top
	Function 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. 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. Subcellular location Nucleus, nucleolus (By similarity). Subunit Does not interact with cyclins, CDK1, CDK2, CDK4, CDK5 or CDK6. Binds to BCL6, E2F1, HUWE1, MDM2, MYC, NPM1/B23, TOP1/TOPOI and UBE2I/UBC9. Interacts with TBRG1. Interacts with CDKN2AIP and E4F1.
	Ontologies top
	Biological process DNA fragmentation involved in apoptotic nuclear change [GO:0006309] transcription [GO:0006350] rRNA processing [GO:0006364] negative regulation of protein kinase activity [GO:0006469] induction of apoptosis [GO:0006917] activation of caspase activity [GO:0006919] cell cycle arrest [GO:0007050] apoptotic mitochondrial changes [GO:0008637] senescence [GO:0010149] regulation of G2/M transition of mitotic cell cycle [GO:0010389] negative regulation of B cell proliferation [GO:0030889] protein destabilization [GO:0031648] negative regulation of immature T cell proliferation in the thymus [GO:0033088] positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517] regulation of transcription [GO:0045449] regulation of protein export from nucleus [GO:0046825] somatic stem cell division [GO:0048103] protein stabilization [GO:0050821] negative regulation of ubiquitin-protein ligase activity [GO:0051444] positive regulation of cell cycle arrest [GO:0071158] Cellular component nucleoplasm [GO:0005654] nucleolus [GO:0005730] protein complex [GO:0043234] Molecular function p53 binding [GO:0002039] DNA binding [GO:0003677] protein binding [GO:0005515] ubiquitin-protein ligase inhibitor activity [GO:0055105] MDM2 binding [GO:0070215]
	Binary interactions top
	With Uniprot accession IntAct EBNA-LP (xeno) Q8AZK7 EBI-625922,EBI-1185167 ??? Q81UM5 EBI-625922,EBI-2815918 PPP1CB P62140 EBI-625922,EBI-352350 NPM1 P06748 EBI-625922,EBI-78579 P53 P04637 EBI-625922,EBI-366083 PPP1CC P36873-1 EBI-625922,EBI-356289 MDM2 Q00987 EBI-625922,EBI-389668 DAXX Q9UER7 EBI-625922,EBI-77321 HUWE1 Q7Z6Z7 EBI-625922,EBI-625934
	Alternative product(s) top
	Sequence annotation top
	Feature key Position Length Description Feature identifier Natural variations           Natural variant site 58 - 58 1 P -> S (in dbSNP:rs3731190) VAR_029287 Natural variant site 147 - 147 1 G -> R (in dbSNP:rs4987127) VAR_053033 Natural variant site 154 - 154 1 P -> L (in dbSNP:rs34886500) VAR_053034 Natural variant site 157 - 157 1 G -> D (in dbSNP:rs35741010) VAR_053035
	Sequence top
	FASTA 1  MGRGRCVGPS LQLRGQEWRC SPLVPKGGAA AAELGPGGGE NMVRRFLVTL RIRRACGPPR VRVFVVHIPR LTGEWAAPGA 81  PAAVALVLML LRSQRLGQQP LPRRPGHDDG QRPSGGAAAA PRRGAQLRRP RHSHPTRARR CPGGLPGHAG GAAPGRGAAG 161  RARCLGPSAR GPG >sp|Q8N726|CD2A2_human Cyclin-dependent kinase inhibitor 2A, isoform 4 MGRGRCVGPSLQLRGQEWRCSPLVPKGGAAAAELGPGGGENMVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGA PAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAG RARCLGPSARGPG

	D3DRK1 - Generality top
	Primary source Uniprot : D3DRK1 Name Cyclin-dependent kinase inhibitor 2A (Melanoma, p16, inhibits CDK4), isoform CRA_b [submitted name] Alternative name(s) Synonym(s) Organism Homo sapiens Length 156 aa Protein existence ---
	External Links top
	Smart SM00248   Refseq NP_000068.1   Uniprot D3DRK1   InterPro IPR020683   IPR002110   PROSITE PS50297   SUPFAM SSF48403
	General annotation (Comments) top
	Ontologies top
	Binary interactions top
	With Uniprot accession IntAct
	Alternative product(s) top
	Sequence annotation top
	Feature key Position Length Description Feature identifier
	Sequence top
	FASTA 1  MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA ELLLLHGAEP NCADPATLTR 81  PVHDAAREGF LDTLVVLHRA GARLDVRDAW GRLPVDLAEE LGHRDVARYL RAAAGGTRGS NHARIDAAEG PSDIPD >sp|D3DRK1|D3DRK1_human Cyclin-dependent kinase inhibitor 2A (Melanoma, p16, inhibits CDK4), isoform CRA_b [submitted name] MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD

	D3DRK2 - Generality top
	Primary source Uniprot : D3DRK2 Name Cyclin-dependent kinase inhibitor 2A (Melanoma, p16, inhibits CDK4), isoform CRA_c [submitted name] Alternative name(s) Synonym(s) Organism Homo sapiens Length 173 aa Protein existence ---
	External Links top
	Refseq NP_478102.1   Uniprot D3DRK2   InterPro IPR010868   Pfam PF07392
	General annotation (Comments) top
	Ontologies top
	Binary interactions top
	With Uniprot accession IntAct
	Alternative product(s) top
	Sequence annotation top
	Feature key Position Length Description Feature identifier
	Sequence top
	FASTA 1  MGRGRCVGPS LQLRGQEWRC SPLVPKGGAA AAELGPGGGE NMVRRFLVTL RIRRACGPPR VRVFVVHIPR LTGEWAAPGA 81  PAAVALVLML LRSQRLGQQP LPRRPGHDDG QRPSGGAAAA PRRGAQLRRP RHSHPTRARR CPGGLPGHAG GAAPGRGAAG 161  RARCLGPSAR GPG >sp|D3DRK2|D3DRK2_human Cyclin-dependent kinase inhibitor 2A (Melanoma, p16, inhibits CDK4), isoform CRA_c [submitted name] MGRGRCVGPSLQLRGQEWRCSPLVPKGGAAAAELGPGGGENMVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGA PAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAG RARCLGPSARGPG

	P42771 - Generality top
	Primary source Uniprot : P42771 Name Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 Alternative name(s) Cyclin-dependent kinase 4 inhibitor A Multiple tumor suppressor 1 p16-INK4a Synonym(s) CDK4I MTS-1 p16-INK4 p16INK4A Organism Homo sapiens Length 156 aa Protein existence ---
	External Links top
	ArrayExpress P42771   Smart SM00248   Refseq NP_478104.2   NP_000068.1   Uniprot P42771   EBI EBI-375053   InterPro IPR020683   IPR002110   KEGG hsa:1029   PDB 2A5E   1DC2   1BI7   1A5E   PDBsum 2A5E   1DC2   1BI7   1A5E   PROSITE PS50088   PS50297   SUPFAM SSF48403
	General annotation (Comments) top
	Disease Genetic variations in CDKN2A may underlie susceptibility to uveal melanoma [MIM:155720]. Uveal melanoma is the most common type of ocular malignant tumor, consisting of overgrowth of uveal melanocytes and often preceded by a uveal nevus. Defects in CDKN2A are the cause of cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]. Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites. Defects in CDKN2A are the cause of familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]. Defects in CDKN2A are a cause of Li-Fraumeni syndrome (LFS) [MIM:151623]. LFS is a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Defects in CDKN2A are the cause of melanoma-astrocytoma syndrome [MIM:155755]. The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. Function 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. Similarity Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. Contains 4 ANK repeats. Subcellular location Cytoplasm. Nucleus. Subunit Heterodimer with CDK4 or CDK6. Isoform 3 does not bind to CDK4. Interacts with ISCO2. Tissue specificity Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific.
	Ontologies top
	Biological process cell cycle checkpoint [GO:0000075] G1/S transition of mitotic cell cycle [GO:0000082] negative regulation of cell-matrix adhesion [GO:0001953] induction of apoptosis [GO:0006917] cell cycle arrest [GO:0007050] Ras protein signal transduction [GO:0007265] negative regulation of cell proliferation [GO:0008285] senescence [GO:0010149] negative regulation of cell growth [GO:0030308] negative regulation of NF-kappaB transcription factor activity [GO:0032088] negative regulation of phosphorylation [GO:0042326] negative regulation of cyclin-dependent protein kinase activity [GO:0045736] Cellular component nucleus [GO:0005634] cytoplasm [GO:0005737] Molecular function cyclin-dependent protein kinase inhibitor activity [GO:0004861] protein binding [GO:0005515] protein kinase binding [GO:0019901] NF-kappaB binding [GO:0051059]
	Binary interactions top
	With Uniprot accession IntAct MYL12A P19105 EBI-375053,EBI-354418 PCNA P12004 EBI-375053,EBI-358311 ACTN4 O43707 EBI-375053,EBI-351526 TUBB2C P68371 EBI-375053,EBI-351356 HNRNPA2B1 P22626 EBI-375053,EBI-299649 HSP90AA1 P07900 EBI-375053,EBI-296047 CDC6 Q99741 EBI-375053,EBI-374862 ORC4L O43929 EBI-375053,EBI-374889 PDCD6 O75340 EBI-375053,EBI-352915 CDC45L O75419 EBI-375053,EBI-374969 RIN2 Q8WYP3 EBI-375053,EBI-1641640 EF2 P13639 EBI-375053,EBI-352560 CDK4 P11802 EBI-375053,EBI-295644 TUBA1A Q71U36 EBI-375053,EBI-302552 CDK6 Q00534 EBI-375053,EBI-295663 SNRPB P14678 EBI-375053,EBI-372458 MCM2 P49736 EBI-375053,EBI-374819 HSP7C P11142 EBI-375053,EBI-351896 HNRNPC P07910 EBI-375053,EBI-357966 SNRPA P09012 EBI-375053,EBI-607085 CDC7 O00311 EBI-375053,EBI-374980 EPHA3 P29320 EBI-375053,EBI-1641575 GMNN O75496 EBI-375053,EBI-371669 AURKA O14965 EBI-375053, HS90B P08238 EBI-375053,EBI-352572 TUBA1C Q9BQE3 EBI-375053,EBI-1103245 MCM5 P33992 EBI-375053,EBI-359410 HSPA4 P34932 EBI-375053,EBI-356933 UBE4B O95155 EBI-375053,EBI-1641720 MCM6 Q14566 EBI-375053,EBI-374900 ACTB P60709 EBI-375053,EBI-353944 ORC5L O43913 EBI-375053,EBI-374928 MMRN1 Q13201 EBI-375053,EBI-1641616 G3P P04406 EBI-375053,EBI-354056 ACTG1 P63261 EBI-375053,EBI-351292 ACLY P53396 EBI-375053,EBI-1042794 USP26 Q9BXU7 EBI-375053,EBI-1641713 MTR Q99707 EBI-375053,EBI-1045782 TUBB P07437 EBI-375053,EBI-350864 RUVBL2 Q9Y230 EBI-375053,EBI-352939 HSPA9 P38646 EBI-375053,EBI-354932 MCM10 Q7L590 EBI-375053,EBI-374912
	Alternative product(s) top
	Uniprot Identifier Difference(s) with the 'canonical' sequence Notes Sequences Isoform 1 P42771-1 --- 'Canonical' sequence Get Fasta Isoform 2 P42771-2 1-51  :  Missing --- Get Fasta Isoform 3 P42771-3 52-116  :  MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLD TLVVLHRAGARLDVRDAWGRLPVD -> GRRSAAGAGDGGR LWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGD ALGAWETKEEE 117-156  :  Missing --- Get Fasta Isoform 4 Q8N726-1 -  :   --- Get Fasta
	Sequence annotation top
	Feature key Position Length Description Feature identifier Region           Repeat region 11 - 40 30 ANK 1 P42771-REPEAT-ANK_1 Repeat region 44 - 72 29 ANK 2 P42771-REPEAT-ANK_2 Repeat region 77 - 106 30 ANK 3 P42771-REPEAT-ANK_3 Repeat region 110 - 139 30 ANK 4 P42771-REPEAT-ANK_4 Natural variations           Natural variant site 14 - 14 1 D -> E (in a biliary tract tumor) VAR_001408 Natural variant site 16 - 16 1 L -> P (in a biliary tract tumor and a familial melanoma) VAR_001409 Natural variant site 19 - 19 1 A -> ATA (in CMM2; loss of CDK4 binding) VAR_058549 Natural variant site 20 - 20 1 A -> P (in a lung tumor and melanoma) VAR_001410 Natural variant site 20 - 20 1 A -> S (in a biliary tract tumor) VAR_001411 Natural variant site 23 - 23 1 G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding) VAR_001412 Natural variant site 24 - 24 1 R -> P (in CMM2) VAR_001414 Natural variant site 24 - 24 1 R -> Q (found in a patient with multiple primary melanoma; partial loss of CDK4 binding) VAR_058550 Natural variant site 24 - 24 1 R -> C (in CMM2) VAR_001413 Natural variant site 26 - 26 1 E -> D (in a biliary tract tumor) VAR_001415 Natural variant site 32 - 32 1 L -> P (in CMM2) VAR_001416 Natural variant site 33 - 33 1 E -> D (in a biliary tract tumor) VAR_001417 Natural variant site 35 - 35 1 G -> E (in CMM2) VAR_001419 Natural variant site 35 - 35 1 G -> V (in CMM2; loss of CDK4 binding) VAR_058551 Natural variant site 35 - 35 1 G -> A (in CMM2 and a biliary tract tumor; partial loss of CDK4 binding) VAR_001418 Natural variant site 48 - 48 1 P -> L (in CMM2 and a head and neck tumor; somatic mutation) VAR_001420 Natural variant site 49 - 49 1 I -> T VAR_001422 Natural variant site 49 - 49 1 I -> S (in a biliary tract tumor) VAR_001421 Natural variant site 50 - 50 1 Q -> R (in CMM2) VAR_001423 Natural variant site 53 - 53 1 M -> I (in CMM2) VAR_001424 Natural variant site 56 - 56 1 S -> I (possible polymorphism) VAR_001425 Natural variant site 57 - 57 1 A -> V (in pancreas carcinoma; somatic mutation; partial loss of CDK4 binding) VAR_001426 Natural variant site 58 - 58 1 R -> Q (in dbSNP:rs36204273) VAR_053027 Natural variant site 59 - 59 1 V -> G (in CMM2) VAR_001427 Natural variant site 60 - 60 1 A -> T VAR_001428 Natural variant site 60 - 60 1 A -> V (in melanoma; loss of CDK4 binding; dbSNP:rs36204594) VAR_053028 Natural variant site 61 - 62 2 EL -> DV VAR_001429 Natural variant site 62 - 62 1 L -> P (in CMM2) VAR_001430 Natural variant site 66 - 66 1 H -> Y (in non-small cell lung carcinoma) VAR_001431 Natural variant site 67 - 71 5 Missing (in melanoma; loss of CDK4 binding) VAR_058552 Natural variant site 67 - 67 1 G -> R (in CMM2; partial loss of CDK4 binding) VAR_058553 Natural variant site 68 - 68 1 A -> V VAR_001434 Natural variant site 68 - 68 1 A -> L (in CMM2; requires 2 nucleotide substitutions) VAR_001432 Natural variant site 68 - 68 1 A -> T (in an esophagus tumor) VAR_001433 Natural variant site 69 - 69 1 E -> G (found in some patients with melanoma; partial loss of CDK4 binding) VAR_058554 Natural variant site 69 - 69 1 E -> K (in a bladder tumor) VAR_001435 Natural variant site 69 - 69 1 E -> V (in a lung tumor) VAR_001436 Natural variant site 71 - 71 1 N -> K (in CMM2) VAR_001437 Natural variant site 71 - 71 1 N -> S VAR_001438 Natural variant site 72 - 72 1 C -> G (in an esophagus tumor) VAR_001439 Natural variant site 74 - 74 1 D -> Y (in CMM2; loss of CDK4 binding) VAR_058555 Natural variant site 74 - 74 1 D -> N (in a bladder tumor) VAR_001440 Natural variant site 74 - 74 1 D -> V (in a biliary tract tumor) VAR_001441 Natural variant site 77 - 77 1 T -> P (in CMM2; loss of CDK4 binding) VAR_058556 Natural variant site 80 - 80 1 R -> L (in a head and neck tumor) VAR_001442 Natural variant site 80 - 80 1 R -> P (in CMM2; loss of CDK4 binding) VAR_058557 Natural variant site 81 - 81 1 P -> T (in CMM2; loss of CDK4 binding) VAR_058558 Natural variant site 81 - 81 1 P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823) VAR_001443 Natural variant site 83 - 83 1 H -> Y (in a pancreas and a head and neck tumor) VAR_001444 Natural variant site 83 - 83 1 H -> Q (in dbSNP:rs34968276) VAR_053029 Natural variant site 83 - 83 1 H -> N (in a lung tumor) VAR_001445 Natural variant site 84 - 84 1 D -> H (in non-small cell lung carcinoma) VAR_001447 Natural variant site 84 - 84 1 D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822) VAR_001449 Natural variant site 84 - 84 1 D -> E (in a bladder tumor) VAR_001446 Natural variant site 84 - 84 1 D -> N (in an esophagus, a head and neck and a lung tumor) VAR_001448 Natural variant site 85 - 85 1 A -> T VAR_001450 Natural variant site 87 - 87 1 R -> P (in CMM2; impairs the function) VAR_001451 Natural variant site 87 - 87 1 R -> W (in CMM2; partial loss of CDK4 binding) VAR_012317 Natural variant site 88 - 88 1 E -> D (in a biliary tract tumor) VAR_001452 Natural variant site 89 - 89 1 G -> S (in CMM2) VAR_001454 Natural variant site 89 - 89 1 G -> D (in CMM2; somatic mutation) VAR_001453 Natural variant site 93 - 93 1 T -> A (in non-small cell lung carcinoma) VAR_001455 Natural variant site 94 - 94 1 L -> Q (in CMM2) VAR_023604 Natural variant site 95 - 95 1 V -> A (in non-small cell lung carcinoma) VAR_001456 Natural variant site 97 - 97 1 L -> R (in CMM2; loss of CDK4 binding) VAR_001457 Natural variant site 98 - 98 1 H -> Q (in CMM2) VAR_001459 Natural variant site 98 - 98 1 H -> P (in CMM2) VAR_001458 Natural variant site 99 - 99 1 R -> Q (in non-small cell lung carcinoma) VAR_001461 Natural variant site 99 - 99 1 R -> W (in dbSNP:rs34886500) VAR_053030 Natural variant site 99 - 99 1 R -> P (in CMM2; loss of CDK4 binding) VAR_001460 Natural variant site 100 - 100 1 A -> P VAR_001463 Natural variant site 100 - 100 1 A -> L (in CMM2; requires 2 nucleotide substitutions) VAR_001462 Natural variant site 101 - 101 1 G -> W (in CMM2 and FAMMMPC; impairs the function) VAR_001464 Natural variant site 102 - 102 1 A -> T (in dbSNP:rs35741010) VAR_053031 Natural variant site 102 - 102 1 A -> E (in LFS; somatic mutation) VAR_015818 Natural variant site 104 - 105 2 Missing VAR_001465 Natural variant site 107 - 107 1 R -> C (in CMM2) VAR_001466 Natural variant site 107 - 107 1 R -> H VAR_001467 Natural variant site 108 - 108 1 D -> Y (in a head and neck tumor) VAR_001468 Natural variant site 108 - 108 1 D -> H (in a bladder tumor) VAR_001469 Natural variant site 112 - 112 1 R -> RR (in CMM2) VAR_035068 Natural variant site 114 - 114 1 P -> S (found in some patients with melanoma; loss of CDK4 binding) VAR_058559 Natural variant site 114 - 114 1 P -> L (in non-small cell lung carcinoma) VAR_001470 Natural variant site 117 - 117 1 L -> M (in CMM2; somatic mutation) VAR_001471 Natural variant site 118 - 118 1 A -> T (in CMM2) VAR_001472 Natural variant site 119 - 119 1 E -> Q (in a biliary tract tumor) VAR_001473 Natural variant site 120 - 120 1 E -> K (in non-small cell lung carcinoma) VAR_001475 Natural variant site 120 - 120 1 E -> A (in non-small cell lung carcinoma) VAR_001474 Natural variant site 122 - 122 1 G -> S (in a biliary tract tumor) VAR_001476 Natural variant site 122 - 122 1 G -> R (in CMM2) VAR_035069 Natural variant site 123 - 123 1 H -> Q (in leukemia; dbSNP:rs6413463) VAR_001477 Natural variant site 124 - 124 1 R -> C (in dbSNP:rs34170727) VAR_053032 Natural variant site 124 - 124 1 R -> H (in an esophagus tumor) VAR_001478 Natural variant site 126 - 126 1 V -> D (in CMM2; impairs the function) VAR_001479 Natural variant site 127 - 127 1 A -> S (in squamous cell carcinoma; dbSNP:rs6413464) VAR_001480 Natural variant site 132 - 132 1 A -> P (in non-small cell lung carcinoma) VAR_001481 Natural variant site 134 - 134 1 A -> V (in non-small cell lung carcinoma) VAR_001482 Natural variant site 142 - 142 1 H -> Y (in non-small cell lung carcinoma) VAR_001483 Natural variant site 144 - 144 1 R -> C (in squamous cell carcinoma) VAR_001484 Natural variant site 148 - 148 1 A -> T (in dbSNP:rs3731249) VAR_001486 Natural variant site 150 - 150 1 G -> V (in non-small cell lung carcinoma) VAR_001487  -  Alternative sequence 1 - 51 51 Missing VSP_015864 Alternative sequence 52 - 116 65 MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLD TLVVLHRAGARLDVRDAWGRLPVD -> GRRSAAGAGDGGR LWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGD ALGAWETKEEE VSP_015865 Alternative sequence 117 - 156 40 Missing VSP_015866 Amino acid modifications           Modified residue 1 - 1 1 N-acetylmethionine P42771-MOD_RES-1
	Sequence top
	FASTA 1  MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA ELLLLHGAEP NCADPATLTR 81  PVHDAAREGF LDTLVVLHRA GARLDVRDAW GRLPVDLAEE LGHRDVARYL RAAAGGTRGS NHARIDAAEG PSDIPD >sp|P42771|CD2A1_human Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD