KEGG   Homo sapiens (human): 595
Entry
595               CDS       T01001                                 
Symbol
CCND1, BCL1, D11S287E, PRAD1, U21B31
Name
(RefSeq) cyclin D1
  KO
K04503  G1/S-specific cyclin-D1
Organism
hsa  Homo sapiens (human)
Pathway
hsa01522  Endocrine resistance
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04152  AMPK signaling pathway
hsa04218  Cellular senescence
hsa04310  Wnt signaling pathway
hsa04340  Hedgehog signaling pathway
hsa04371  Apelin signaling pathway
hsa04390  Hippo signaling pathway
hsa04510  Focal adhesion
hsa04530  Tight junction
hsa04630  JAK-STAT signaling pathway
hsa04917  Prolactin signaling pathway
hsa04919  Thyroid hormone signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04934  Cushing syndrome
hsa04936  Alcoholic liver disease
hsa05160  Hepatitis C
hsa05162  Measles
hsa05163  Human cytomegalovirus infection
hsa05165  Human papillomavirus infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05167  Kaposi sarcoma-associated herpesvirus infection
hsa05169  Epstein-Barr virus infection
hsa05200  Pathways in cancer
hsa05203  Viral carcinogenesis
hsa05205  Proteoglycans in cancer
hsa05206  MicroRNAs in cancer
hsa05207  Chemical carcinogenesis - receptor activation
hsa05210  Colorectal cancer
hsa05212  Pancreatic cancer
hsa05213  Endometrial cancer
hsa05214  Glioma
hsa05215  Prostate cancer
hsa05216  Thyroid cancer
hsa05218  Melanoma
hsa05219  Bladder cancer
hsa05220  Chronic myeloid leukemia
hsa05221  Acute myeloid leukemia
hsa05222  Small cell lung cancer
hsa05223  Non-small cell lung cancer
hsa05224  Breast cancer
hsa05225  Hepatocellular carcinoma
hsa05226  Gastric cancer
hsa05416  Viral myocarditis
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06162  Hepatitis B virus (HBV)
nt06163  Hepatitis C virus (HCV)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06165  Epstein-Barr virus (EBV)
nt06166  Human papillomavirus (HPV)
nt06167  Human cytomegalovirus (HCMV)
nt06170  Influenza A virus (IAV)
nt06181  Salmonella
nt06210  ERK signaling (cancer)
nt06215  WNT signaling (cancer)
nt06219  JAK-STAT signaling (cancer)
nt06220  Calcium signaling (cancer)
nt06227  Nuclear receptor signaling (cancer)
nt06230  Cell cycle (cancer)
nt06260  Colorectal cancer
nt06261  Gastric cancer
nt06262  Pancreatic cancer
nt06263  Hepatocellular carcinoma
nt06264  Renal cell carcinoma
nt06265  Bladder cancer
nt06266  Non-small cell lung cancer
nt06267  Small cell lung cancer
nt06268  Melanoma
nt06270  Breast cancer
nt06271  Endometrial cancer
nt06273  Glioma
nt06274  Thyroid cancer
nt06275  Acute myeloid leukemia
nt06276  Chronic myeloid leukemia
nt06505  WNT signaling
  Element
N00001  EGF-EGFR-RAS-ERK signaling pathway
N00005  Mutation-activated MET to RAS-ERK signaling pathway
N00007  EML4-ALK fusion kinase to RAS-ERK signaling pathway
N00012  Mutation-activated KRAS/NRAS to ERK signaling pathway
N00014  Mutation-activated EGFR to RAS-ERK signaling pathway
N00023  EGF-EGFR-PLCG-ERK signaling pathway
N00024  Mutation-activated EGFR to PLCG-ERK signaling pathway
N00025  EML4-ALK fusion kinase to PLCG-ERK signaling pathway
N00056  Wnt signaling pathway
N00057  Mutation-inactivated APC to Wnt signaling pathway
N00058  Mutation-activated CTNNB1 to Wnt signaling pathway
N00059  FZD7-overexpression to Wnt signaling pathway
N00060  LRP6-overexpression to Wnt signaling pathway
N00061  CDH1-reduced expression to beta-catenin signaling pathway
N00066  MDM2-p21-Cell cycle G1/S
N00067  Deleted p14(ARF) to p21-cell cycle G1/S
N00068  Amplified MDM2 to p21-cell cycle G1/S
N00069  p16-Cell cycle G1/S
N00070  Mutation-inactivated p16(INK4a) to p16-cell cycle G1/S
N00071  Deleted p16(INK4a) to p16-cell cycle G1/S
N00072  Amplified CDK4 to cell cycle G1/S
N00073  Mutation-activated CDK4 to cell cycle G1/S
N00076  Mutation-inactivated p14(ARF) to p21-cell cycle G1/S
N00088  Amplified MYC to p15-cell cycle G1/S
N00089  Amplified MYC to cell cycle G1/S
N00090  p15-Cell cycle G1/S
N00175  KSHV LANA to Wnt signaling pathway
N00242  Mutation-inactivated AXIN to Wnt signaling pathway
N00257  Loss of CDH1 to beta-catenin signaling pathway
N00258  Mutation-inactivated CDH1 to beta-catenin signaling pathway
N00275  Amplified CCND1 to cell cycle G1/S
N00287  ESR1-positive to nuclear-initiated estrogen signaling pathway
N00347  p300-p21-Cell cycle G1/S
N00483  EBV EBNA3C to cell cycle G1/S
N00510  HTLV-1 Tax to CREB-mediated transcription
N00513  Mutation-activated EGFR to RAS-ERK signaling pathway
N00529  HCV core to RXRA/PPARA-mediated transcription
N00530  HCV core to RXRA/LXRA-mediated transcription
N01342  Nicotine to Jak-STAT signaling pathway
N01360  P4-PR-RAS-ERK signaling pathway
N01361  P4/MPA to PR-RAS-ERK signaling pathway
N01362  Nuclear-initiated progesterone signaling pathway
Disease
H00006  Hairy cell leukemia
H00010  Multiple myeloma
H00016  Oral cancer
H00017  Esophageal cancer
H00020  Colorectal cancer
H00031  Breast cancer
H00055  Laryngeal cancer
H00559  von Hippel-Lindau syndrome
H01464  Mantle cell lymphoma
Drug target
Omacetaxine mepesuccinate: D08956
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    595 (CCND1)
   04340 Hedgehog signaling pathway
    595 (CCND1)
   04390 Hippo signaling pathway
    595 (CCND1)
   04371 Apelin signaling pathway
    595 (CCND1)
   04630 JAK-STAT signaling pathway
    595 (CCND1)
   04068 FoxO signaling pathway
    595 (CCND1)
   04151 PI3K-Akt signaling pathway
    595 (CCND1)
   04152 AMPK signaling pathway
    595 (CCND1)
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    595 (CCND1)
   04115 p53 signaling pathway
    595 (CCND1)
   04218 Cellular senescence
    595 (CCND1)
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    595 (CCND1)
   04530 Tight junction
    595 (CCND1)
 09150 Organismal Systems
  09152 Endocrine system
   04917 Prolactin signaling pathway
    595 (CCND1)
   04921 Oxytocin signaling pathway
    595 (CCND1)
   04919 Thyroid hormone signaling pathway
    595 (CCND1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    595 (CCND1)
   05206 MicroRNAs in cancer
    595 (CCND1)
   05205 Proteoglycans in cancer
    595 (CCND1)
   05207 Chemical carcinogenesis - receptor activation
    595 (CCND1)
   05203 Viral carcinogenesis
    595 (CCND1)
  09162 Cancer: specific types
   05210 Colorectal cancer
    595 (CCND1)
   05212 Pancreatic cancer
    595 (CCND1)
   05225 Hepatocellular carcinoma
    595 (CCND1)
   05226 Gastric cancer
    595 (CCND1)
   05214 Glioma
    595 (CCND1)
   05216 Thyroid cancer
    595 (CCND1)
   05221 Acute myeloid leukemia
    595 (CCND1)
   05220 Chronic myeloid leukemia
    595 (CCND1)
   05218 Melanoma
    595 (CCND1)
   05219 Bladder cancer
    595 (CCND1)
   05215 Prostate cancer
    595 (CCND1)
   05213 Endometrial cancer
    595 (CCND1)
   05224 Breast cancer
    595 (CCND1)
   05222 Small cell lung cancer
    595 (CCND1)
   05223 Non-small cell lung cancer
    595 (CCND1)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    595 (CCND1)
   05160 Hepatitis C
    595 (CCND1)
   05162 Measles
    595 (CCND1)
   05163 Human cytomegalovirus infection
    595 (CCND1)
   05167 Kaposi sarcoma-associated herpesvirus infection
    595 (CCND1)
   05169 Epstein-Barr virus infection
    595 (CCND1)
   05165 Human papillomavirus infection
    595 (CCND1)
  09166 Cardiovascular disease
   05416 Viral myocarditis
    595 (CCND1)
  09167 Endocrine and metabolic disease
   04936 Alcoholic liver disease
    595 (CCND1)
   04933 AGE-RAGE signaling pathway in diabetic complications
    595 (CCND1)
   04934 Cushing syndrome
    595 (CCND1)
  09176 Drug resistance: antineoplastic
   01522 Endocrine resistance
    595 (CCND1)
SSDB
Motif
Pfam: Cyclin_N Cyclin_C
Other DBs
NCBI-GeneID: 595
NCBI-ProteinID: NP_444284
OMIM: 168461
HGNC: 1582
Ensembl: ENSG00000110092
UniProt: P24385 Q6FI00
Structure
LinkDB
Position
11:69641156..69654474
AA seq 295 aa
MEHQLLCCEVETIRRAYPDANLLNDRVLRAMLKAEETCAPSVSYFKCVQKEVLPSMRKIV
ATWMLEVCEEQKCEEEVFPLAMNYLDRFLSLEPVKKSRLQLLGATCMFVASKMKETIPLT
AEKLCIYTDNSIRPEELLQMELLLVNKLKWNLAAMTPHDFIEHFLSKMPEAEENKQIIRK
HAQTFVALCATDVKFISNPPSMVAAGSVVAAVQGLNLRSPNNFLSYYRLTRFLSRVIKCD
PDCLRACQEQIEALLESSLRQAQQNMDPKAAEEEEEEEEEVDLACTPTDVRDVDI
NT seq 888 nt   +upstreamnt  +downstreamnt
atggaacaccagctcctgtgctgcgaagtggaaaccatccgccgcgcgtaccccgatgcc
aacctcctcaacgaccgggtgctgcgggccatgctgaaggcggaggagacctgcgcgccc
tcggtgtcctacttcaaatgtgtgcagaaggaggtcctgccgtccatgcggaagatcgtc
gccacctggatgctggaggtctgcgaggaacagaagtgcgaggaggaggtcttcccgctg
gccatgaactacctggaccgcttcctgtcgctggagcccgtgaaaaagagccgcctgcag
ctgctgggggccacttgcatgttcgtggcctctaagatgaaggagaccatccccctgacg
gccgagaagctgtgcatctacaccgacaactccatccggcccgaggagctgctgcaaatg
gagctgctcctggtgaacaagctcaagtggaacctggccgcaatgaccccgcacgatttc
attgaacacttcctctccaaaatgccagaggcggaggagaacaaacagatcatccgcaaa
cacgcgcagaccttcgttgccctctgtgccacagatgtgaagttcatttccaatccgccc
tccatggtggcagcggggagcgtggtggccgcagtgcaaggcctgaacctgaggagcccc
aacaacttcctgtcctactaccgcctcacacgcttcctctccagagtgatcaagtgtgac
ccggactgcctccgggcctgccaggagcagatcgaagccctgctggagtcaagcctgcgc
caggcccagcagaacatggaccccaaggccgccgaggaggaggaagaggaggaggaggag
gtggacctggcttgcacacccaccgacgtgcgggacgtggacatctga

KEGG   Homo sapiens (human): 894
Entry
894               CDS       T01001                                 
Symbol
CCND2, KIAK0002, MPPH3
Name
(RefSeq) cyclin D2
  KO
K10151  G1/S-specific cyclin-D2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04218  Cellular senescence
hsa04310  Wnt signaling pathway
hsa04340  Hedgehog signaling pathway
hsa04390  Hippo signaling pathway
hsa04510  Focal adhesion
hsa04630  JAK-STAT signaling pathway
hsa04917  Prolactin signaling pathway
hsa05162  Measles
hsa05165  Human papillomavirus infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05169  Epstein-Barr virus infection
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa05203  Viral carcinogenesis
hsa05206  MicroRNAs in cancer
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06163  Hepatitis C virus (HCV)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06165  Epstein-Barr virus (EBV)
nt06166  Human papillomavirus (HPV)
nt06167  Human cytomegalovirus (HCMV)
nt06170  Influenza A virus (IAV)
nt06230  Cell cycle (cancer)
nt06240  Transcription (cancer)
nt06262  Pancreatic cancer
nt06263  Hepatocellular carcinoma
nt06265  Bladder cancer
nt06266  Non-small cell lung cancer
nt06267  Small cell lung cancer
nt06268  Melanoma
nt06270  Breast cancer
nt06273  Glioma
nt06276  Chronic myeloid leukemia
  Element
N00066  MDM2-p21-Cell cycle G1/S
N00067  Deleted p14(ARF) to p21-cell cycle G1/S
N00068  Amplified MDM2 to p21-cell cycle G1/S
N00069  p16-Cell cycle G1/S
N00070  Mutation-inactivated p16(INK4a) to p16-cell cycle G1/S
N00071  Deleted p16(INK4a) to p16-cell cycle G1/S
N00072  Amplified CDK4 to cell cycle G1/S
N00073  Mutation-activated CDK4 to cell cycle G1/S
N00076  Mutation-inactivated p14(ARF) to p21-cell cycle G1/S
N00088  Amplified MYC to p15-cell cycle G1/S
N00089  Amplified MYC to cell cycle G1/S
N00090  p15-Cell cycle G1/S
N00123  Amplified REL to transcription
N00124  IGH-MAF fusion to transcriptional activation
N00125  IGH-MMSET fusion to transcriptional activation
N00347  p300-p21-Cell cycle G1/S
N00483  EBV EBNA3C to cell cycle G1/S
N00489  HTLV-1 p30II to c-myc-mediated transcription
Disease
H00023  Testicular cancer
H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    894 (CCND2)
   04340 Hedgehog signaling pathway
    894 (CCND2)
   04390 Hippo signaling pathway
    894 (CCND2)
   04630 JAK-STAT signaling pathway
    894 (CCND2)
   04068 FoxO signaling pathway
    894 (CCND2)
   04151 PI3K-Akt signaling pathway
    894 (CCND2)
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    894 (CCND2)
   04115 p53 signaling pathway
    894 (CCND2)
   04218 Cellular senescence
    894 (CCND2)
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    894 (CCND2)
 09150 Organismal Systems
  09152 Endocrine system
   04917 Prolactin signaling pathway
    894 (CCND2)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    894 (CCND2)
   05202 Transcriptional misregulation in cancer
    894 (CCND2)
   05206 MicroRNAs in cancer
    894 (CCND2)
   05203 Viral carcinogenesis
    894 (CCND2)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    894 (CCND2)
   05162 Measles
    894 (CCND2)
   05169 Epstein-Barr virus infection
    894 (CCND2)
   05165 Human papillomavirus infection
    894 (CCND2)
SSDB
Motif
Pfam: Cyclin_N Cyclin_C K-cyclin_vir_C
Other DBs
NCBI-GeneID: 894
NCBI-ProteinID: NP_001750
OMIM: 123833
HGNC: 1583
Ensembl: ENSG00000118971
UniProt: P30279
Structure
LinkDB
Position
12:4273762..4305353
AA seq 289 aa
MELLCHEVDPVRRAVRDRNLLRDDRVLQNLLTIEERYLPQCSYFKCVQKDIQPYMRRMVA
TWMLEVCEEQKCEEEVFPLAMNYLDRFLAGVPTPKSHLQLLGAVCMFLASKLKETSPLTA
EKLCIYTDNSIKPQELLEWELVVLGKLKWNLAAVTPHDFIEHILRKLPQQREKLSLIRKH
AQTFIALCATDFKFAMYPPSMIATGSVGAAICGLQQDEEVSSLTCDALTELLAKITNTDV
DCLKACQEQIEAVLLNSLQQYRQDQRDGSKSEDELDQASTPTDVRDIDL
NT seq 870 nt   +upstreamnt  +downstreamnt
atggagctgctgtgccacgaggtggacccggtccgcagggccgtgcgggaccgcaacctg
ctccgagacgaccgcgtcctgcagaacctgctcaccatcgaggagcgctaccttccgcag
tgctcctacttcaagtgcgtgcagaaggacatccaaccctacatgcgcagaatggtggcc
acctggatgctggaggtctgtgaggaacagaagtgcgaagaagaggtcttccctctggcc
atgaattacctggaccgtttcttggctggggtcccgactccgaagtcccatctgcaactc
ctgggtgctgtctgcatgttcctggcctccaaactcaaagagaccagcccgctgaccgcg
gagaagctgtgcatttacaccgacaactccatcaagcctcaggagctgctggagtgggaa
ctggtggtgctggggaagttgaagtggaacctggcagctgtcactcctcatgacttcatt
gagcacatcttgcgcaagctgccccagcagcgggagaagctgtctctgatccgcaagcat
gctcagaccttcattgctctgtgtgccaccgactttaagtttgccatgtacccaccgtcg
atgatcgcaactggaagtgtgggagcagccatctgtgggctccagcaggatgaggaagtg
agctcgctcacttgtgatgccctgactgagctgctggctaagatcaccaacacagacgtg
gattgtctcaaagcttgccaggagcagattgaggcggtgctcctcaatagcctgcagcag
taccgtcaggaccaacgtgacggatccaagtcggaggatgaactggaccaagccagcacc
cctacagacgtgcgggatatcgacctgtga

KEGG   Homo sapiens (human): 896
Entry
896               CDS       T01001                                 
Symbol
CCND3
Name
(RefSeq) cyclin D3
  KO
K10152  G1/S-specific cyclin-D3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04218  Cellular senescence
hsa04310  Wnt signaling pathway
hsa04390  Hippo signaling pathway
hsa04510  Focal adhesion
hsa04630  JAK-STAT signaling pathway
hsa05162  Measles
hsa05164  Influenza A
hsa05165  Human papillomavirus infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05169  Epstein-Barr virus infection
hsa05200  Pathways in cancer
hsa05203  Viral carcinogenesis
hsa05207  Chemical carcinogenesis - receptor activation
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06163  Hepatitis C virus (HCV)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06165  Epstein-Barr virus (EBV)
nt06166  Human papillomavirus (HPV)
nt06167  Human cytomegalovirus (HCMV)
nt06170  Influenza A virus (IAV)
nt06214  PI3K signaling (cancer)
nt06230  Cell cycle (cancer)
nt06262  Pancreatic cancer
nt06263  Hepatocellular carcinoma
nt06265  Bladder cancer
nt06266  Non-small cell lung cancer
nt06267  Small cell lung cancer
nt06268  Melanoma
nt06270  Breast cancer
nt06273  Glioma
nt06276  Chronic myeloid leukemia
  Element
N00066  MDM2-p21-Cell cycle G1/S
N00067  Deleted p14(ARF) to p21-cell cycle G1/S
N00068  Amplified MDM2 to p21-cell cycle G1/S
N00069  p16-Cell cycle G1/S
N00070  Mutation-inactivated p16(INK4a) to p16-cell cycle G1/S
N00071  Deleted p16(INK4a) to p16-cell cycle G1/S
N00072  Amplified CDK4 to cell cycle G1/S
N00073  Mutation-activated CDK4 to cell cycle G1/S
N00076  Mutation-inactivated p14(ARF) to p21-cell cycle G1/S
N00088  Amplified MYC to p15-cell cycle G1/S
N00089  Amplified MYC to cell cycle G1/S
N00090  p15-Cell cycle G1/S
N00347  p300-p21-Cell cycle G1/S
N00483  EBV EBNA3C to cell cycle G1/S
N00741  IAV M2 to cell cycle G1/S
N01350  NNK/NNN to PI3K signaling pathway
Disease
H00010  Multiple myeloma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    896 (CCND3)
   04390 Hippo signaling pathway
    896 (CCND3)
   04630 JAK-STAT signaling pathway
    896 (CCND3)
   04151 PI3K-Akt signaling pathway
    896 (CCND3)
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    896 (CCND3)
   04115 p53 signaling pathway
    896 (CCND3)
   04218 Cellular senescence
    896 (CCND3)
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    896 (CCND3)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    896 (CCND3)
   05207 Chemical carcinogenesis - receptor activation
    896 (CCND3)
   05203 Viral carcinogenesis
    896 (CCND3)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    896 (CCND3)
   05164 Influenza A
    896 (CCND3)
   05162 Measles
    896 (CCND3)
   05169 Epstein-Barr virus infection
    896 (CCND3)
   05165 Human papillomavirus infection
    896 (CCND3)
SSDB
Motif
Pfam: Cyclin_N Cyclin_C K-cyclin_vir_C
Other DBs
NCBI-GeneID: 896
NCBI-ProteinID: NP_001751
OMIM: 123834
HGNC: 1585
Ensembl: ENSG00000112576
UniProt: P30281
Structure
LinkDB
Position
6:complement(41934933..42050035)
AA seq 292 aa
MELLCCEGTRHAPRAGPDPRLLGDQRVLQSLLRLEERYVPRASYFQCVQREIKPHMRKML
AYWMLEVCEEQRCEEEVFPLAMNYLDRYLSCVPTRKAQLQLLGAVCMLLASKLRETTPLT
IEKLCIYTDHAVSPRQLRDWEVLVLGKLKWDLAAVIAHDFLAFILHRLSLPRDRQALVKK
HAQTFLALCATDYTFAMYPPSMIATGSIGAAVQGLGACSMSGDELTELLAGITGTEVDCL
RACQEQIEAALRESLREASQTSSSPAPKAPRGSSSQGPSQTSTPTDVTAIHL
NT seq 879 nt   +upstreamnt  +downstreamnt
atggagctgctgtgttgcgaaggcacccggcacgcgccccgggccgggccggacccgcgg
ctgctgggggaccagcgtgtcctgcagagcctgctccgcctggaggagcgctacgtaccc
cgcgcctcctacttccagtgcgtgcagcgggagatcaagccgcacatgcggaagatgctg
gcttactggatgctggaggtatgtgaggagcagcgctgtgaggaggaagtcttccccctg
gccatgaactacctggatcgctacctgtcttgcgtccccacccgaaaggcgcagttgcag
ctcctgggtgcggtctgcatgctgctggcctccaagctgcgcgagaccacgcccctgacc
atcgaaaaactgtgcatctacaccgaccacgctgtctctccccgccagttgcgggactgg
gaggtgctggtcctagggaagctcaagtgggacctggctgctgtgattgcacatgatttc
ctggccttcattctgcaccggctctctctgccccgtgaccgacaggccttggtcaaaaag
catgcccagacctttttggccctctgtgctacagattatacctttgccatgtacccgcca
tccatgatcgccacgggcagcattggggctgcagtgcaaggcctgggtgcctgctccatg
tccggggatgagctcacagagctgctggcagggatcactggcactgaagtggactgcctg
cgggcctgtcaggagcagatcgaagctgcactcagggagagcctcagggaagcctctcag
accagctccagcccagcgcccaaagccccccggggctccagcagccaagggcccagccag
accagcactcctacagatgtcacagccatacacctgtag

KEGG   VARIANT: 1019v2
Entry
1019v2                      Variant                                
Name
CDK4 mutation
Gene
CDK4  cyclin dependent kinase 4 [KO:K02089]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R24C
ClinVar: 16928
dbSNP: rs11547328
COSM: 1677139
Variation
mutation R24H
ClinVar: 16929
dbSNP: rs104894340
COSM: 1989836
Network
nt06230  Cell cycle (cancer)
nt06268  Melanoma
Disease
H00038  Melanoma
Reference
PMID:8528263
  Authors
Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, Dracopoli NC
  Title
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
  Journal
Nat Genet 12:97-9 (1996)
DOI:10.1038/ng0196-97
Reference
PMID:7652577
  Authors
Wolfel T, Hauer M, Schneider J, Serrano M, Wolfel C, Klehmann-Hieb E, De Plaen E, Hankeln T, Meyer zum Buschenfelde KH, Beach D
  Title
A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma.
  Journal
Science 269:1281-4 (1995)
DOI:10.1126/science.7652577
Reference
PMID:9425228
  Authors
Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J, Bressac-de Paillerets B
  Title
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.
  Journal
Hum Mol Genet 7:209-16 (1998)
DOI:10.1093/hmg/7.2.209
Reference
PMID:9426066
  Authors
Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG
  Title
Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene.
  Journal
Cancer Res 58:109-13 (1998)
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