Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1029
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CDKN2A   Gene   UCSC   Ensembl
Aliases ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16
Gene name cyclin dependent kinase inhibitor 2A
Alternate names cyclin-dependent kinase inhibitor 2A, CDK4 inhibitor p16-INK4, alternative reading frame, cell cycle negative regulator beta, cyclin-dependent kinase 4 inhibitor A, cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), multiple tumor suppressor 1,
Gene location 9p21.3 (21995042: 21967751)     Exons: 8     NC_000009.12
Gene summary(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]
OMIM 600160

SNPs

rs3731197

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.21991372C>T
NC_000009.11   g.21991371C>T
NC_000009.12   g.21991372C>T
NG_007485.1   g.8120G>A
NM_058195.3   c.193+2767G>A
XR_242496.1   n.347+2767G>A

Protein Summary

Protein general information P42771  

Name: Cyclin dependent kinase inhibitor 2A (Cyclin dependent kinase 4 inhibitor A) (CDK4I) (Multiple tumor suppressor 1) (MTS 1) (p16 INK4a) (p16 INK4) (p16INK4A)

Length: 156  Mass: 16,533

Tissue specificity: Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific. {ECO

Sequence MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADP
ATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEG
PSDIPD
Structural information
Interpro:  IPR020683
Prosite:   PS50297

PDB:  
1A5E 1BI7 1DC2 2A5E
PDBsum:   1A5E 1BI7 1DC2 2A5E

DIP:  
6108
MINT:   1201444
STRING:   ENSP00000394932;
Other Databases GeneCards:  CDKN2A;  Malacards:  CDKN2A
Protein general information Q8N726  

Name: Tumor suppressor ARF (Alternative reading frame) (ARF) (Cyclin dependent kinase inhibitor 2A) (p14ARF)

Length: 132  Mass: 13,903

Sequence MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGG
AAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG
Structural information
Interpro:  IPR010868

Pfam:  
PF07392

DIP:  
24171
MINT:   2502129
Other Databases GeneCards:  CDKN2A;  Malacards:  CDKN2A

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0001953 negative regulation of ce
ll-matrix adhesion
IMP biological_process
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007265 Ras protein signal transd
uction
IEP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0032088 negative regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
ISS biological_process
GO:0035985 senescence-associated het
erochromatin focus
IDA cellular_component
GO:0035986 senescence-associated het
erochromatin focus assemb
ly
IMP biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045736 negative regulation of cy
clin-dependent protein se
rine/threonine kinase act
ivity
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0051059 NF-kappaB binding
IDA molecular_function
GO:0090398 cellular senescence
IMP biological_process
GO:0090399 replicative senescence
IMP biological_process
GO:2000111 positive regulation of ma
crophage apoptotic proces
s
ISS biological_process
GO:2000774 positive regulation of ce
llular senescence
IMP biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0001953 negative regulation of ce
ll-matrix adhesion
IMP biological_process
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007049 cell cycle
IEA biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007265 Ras protein signal transd
uction
IEP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0032088 negative regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
ISS biological_process
GO:0035985 senescence-associated het
erochromatin focus
IDA cellular_component
GO:0035986 senescence-associated het
erochromatin focus assemb
ly
IMP biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045736 negative regulation of cy
clin-dependent protein se
rine/threonine kinase act
ivity
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0051059 NF-kappaB binding
IDA molecular_function
GO:0090398 cellular senescence
IMP biological_process
GO:0090399 replicative senescence
IMP biological_process
GO:2000111 positive regulation of ma
crophage apoptotic proces
s
ISS biological_process
GO:2000774 positive regulation of ce
llular senescence
IMP biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0001953 negative regulation of ce
ll-matrix adhesion
IMP biological_process
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007265 Ras protein signal transd
uction
IEP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0032088 negative regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
ISS biological_process
GO:0035985 senescence-associated het
erochromatin focus
IDA cellular_component
GO:0035986 senescence-associated het
erochromatin focus assemb
ly
IMP biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045736 negative regulation of cy
clin-dependent protein se
rine/threonine kinase act
ivity
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0051059 NF-kappaB binding
IDA molecular_function
GO:0090398 cellular senescence
IMP biological_process
GO:0090399 replicative senescence
IMP biological_process
GO:2000111 positive regulation of ma
crophage apoptotic proces
s
ISS biological_process
GO:2000774 positive regulation of ce
llular senescence
IMP biological_process
GO:0000209 protein polyubiquitinatio
n
IDA biological_process
GO:0000422 mitophagy
IMP biological_process
GO:0002039 p53 binding
IPI molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IMP cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006364 rRNA processing
IEA biological_process
GO:0006469 negative regulation of pr
otein kinase activity
IMP biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IMP biological_process
GO:0010389 regulation of G2/M transi
tion of mitotic cell cycl
e
IMP biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0019789 SUMO transferase activity
EXP molecular_function
GO:0030889 negative regulation of B
cell proliferation
ISS biological_process
GO:0031647 regulation of protein sta
bility
ISS biological_process
GO:0031648 protein destabilization
IDA biological_process
GO:0031648 protein destabilization
IDA biological_process
GO:0033088 negative regulation of im
mature T cell proliferati
on in thymus
ISS biological_process
GO:0033235 positive regulation of pr
otein sumoylation
IMP biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043517 positive regulation of DN
A damage response, signal
transduction by p53 clas
s mediator
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046825 regulation of protein exp
ort from nucleus
IMP biological_process
GO:0048103 somatic stem cell divisio
n
ISS biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
ISS biological_process
GO:0051882 mitochondrial depolarizat
ion
IMP biological_process
GO:0055105 ubiquitin-protein transfe
rase inhibitor activity
ISS molecular_function
GO:0070534 protein K63-linked ubiqui
tination
IDA biological_process
GO:0071158 positive regulation of ce
ll cycle arrest
IDA biological_process
GO:0090398 cellular senescence
IMP biological_process
GO:0097371 MDM2/MDM4 family protein
binding
IPI molecular_function
GO:0097371 MDM2/MDM4 family protein
binding
IPI molecular_function
GO:1900182 positive regulation of pr
otein localization to nuc
leus
IDA biological_process
GO:1901798 positive regulation of si
gnal transduction by p53
class mediator
IDA biological_process
GO:1902510 regulation of apoptotic D
NA fragmentation
IMP biological_process
GO:1903051 negative regulation of pr
oteolysis involved in cel
lular protein catabolic p
rocess
IMP biological_process
GO:1903214 regulation of protein tar
geting to mitochondrion
IMP biological_process
GO:2000059 negative regulation of pr
otein ubiquitination invo
lved in ubiquitin-depende
nt protein catabolic proc
ess
IDA biological_process
GO:0016604 nuclear body
IDA cellular_component
GO:0000209 protein polyubiquitinatio
n
IDA biological_process
GO:0000422 mitophagy
IMP biological_process
GO:0002039 p53 binding
IPI molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IEA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005730 nucleolus
IEA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IMP cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006364 rRNA processing
IEA biological_process
GO:0006469 negative regulation of pr
otein kinase activity
IMP biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0007050 cell cycle arrest
IEA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IMP biological_process
GO:0010389 regulation of G2/M transi
tion of mitotic cell cycl
e
IMP biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0019789 SUMO transferase activity
EXP molecular_function
GO:0030889 negative regulation of B
cell proliferation
ISS biological_process
GO:0031647 regulation of protein sta
bility
ISS biological_process
GO:0031648 protein destabilization
IDA biological_process
GO:0031648 protein destabilization
IDA biological_process
GO:0033088 negative regulation of im
mature T cell proliferati
on in thymus
ISS biological_process
GO:0033235 positive regulation of pr
otein sumoylation
IMP biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043517 positive regulation of DN
A damage response, signal
transduction by p53 clas
s mediator
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046825 regulation of protein exp
ort from nucleus
IMP biological_process
GO:0048103 somatic stem cell divisio
n
ISS biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
ISS biological_process
GO:0051882 mitochondrial depolarizat
ion
IMP biological_process
GO:0055105 ubiquitin-protein transfe
rase inhibitor activity
ISS molecular_function
GO:0070534 protein K63-linked ubiqui
tination
IDA biological_process
GO:0071158 positive regulation of ce
ll cycle arrest
IDA biological_process
GO:0090398 cellular senescence
IMP biological_process
GO:0097371 MDM2/MDM4 family protein
binding
IPI molecular_function
GO:0097371 MDM2/MDM4 family protein
binding
IPI molecular_function
GO:1900182 positive regulation of pr
otein localization to nuc
leus
IDA biological_process
GO:1901798 positive regulation of si
gnal transduction by p53
class mediator
IDA biological_process
GO:1902510 regulation of apoptotic D
NA fragmentation
IMP biological_process
GO:1903051 negative regulation of pr
oteolysis involved in cel
lular protein catabolic p
rocess
IMP biological_process
GO:1903214 regulation of protein tar
geting to mitochondrion
IMP biological_process
GO:2000059 negative regulation of pr
otein ubiquitination invo
lved in ubiquitin-depende
nt protein catabolic proc
ess
IDA biological_process
GO:0016604 nuclear body
IDA cellular_component
GO:0000209 protein polyubiquitinatio
n
IDA biological_process
GO:0000422 mitophagy
IMP biological_process
GO:0002039 p53 binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005739 mitochondrion
IMP cellular_component
GO:0006469 negative regulation of pr
otein kinase activity
IMP biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IMP biological_process
GO:0010389 regulation of G2/M transi
tion of mitotic cell cycl
e
IMP biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0019789 SUMO transferase activity
EXP molecular_function
GO:0030889 negative regulation of B
cell proliferation
ISS biological_process
GO:0031647 regulation of protein sta
bility
ISS biological_process
GO:0031648 protein destabilization
IDA biological_process
GO:0031648 protein destabilization
IDA biological_process
GO:0033088 negative regulation of im
mature T cell proliferati
on in thymus
ISS biological_process
GO:0033235 positive regulation of pr
otein sumoylation
IMP biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043517 positive regulation of DN
A damage response, signal
transduction by p53 clas
s mediator
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046825 regulation of protein exp
ort from nucleus
IMP biological_process
GO:0048103 somatic stem cell divisio
n
ISS biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
ISS biological_process
GO:0051882 mitochondrial depolarizat
ion
IMP biological_process
GO:0055105 ubiquitin-protein transfe
rase inhibitor activity
ISS molecular_function
GO:0070534 protein K63-linked ubiqui
tination
IDA biological_process
GO:0071158 positive regulation of ce
ll cycle arrest
IDA biological_process
GO:0090398 cellular senescence
IMP biological_process
GO:0097371 MDM2/MDM4 family protein
binding
IPI molecular_function
GO:0097371 MDM2/MDM4 family protein
binding
IPI molecular_function
GO:1900182 positive regulation of pr
otein localization to nuc
leus
IDA biological_process
GO:1901798 positive regulation of si
gnal transduction by p53
class mediator
IDA biological_process
GO:1902510 regulation of apoptotic D
NA fragmentation
IMP biological_process
GO:1903051 negative regulation of pr
oteolysis involved in cel
lular protein catabolic p
rocess
IMP biological_process
GO:1903214 regulation of protein tar
geting to mitochondrion
IMP biological_process
GO:2000059 negative regulation of pr
otein ubiquitination invo
lved in ubiquitin-depende
nt protein catabolic proc
ess
IDA biological_process
GO:0016604 nuclear body
IDA cellular_component

KEGG pathways

hsa05200  Pathways in cancer
hsa05206  MicroRNAs in cancer
hsa05166  HTLV-I infection
hsa05203  Viral carcinogenesis
hsa01522  Endocrine resistance
hsa04110  Cell cycle
hsa05218  Melanoma
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa01524  Platinum drug resistance
hsa05219  Bladder cancer
hsa04115  p53 signaling pathway
hsa05214  Glioma
hsa05223  Non-small cell lung cancer

Diseases

Associated diseases References
Adenomyosis PMID: 11078826
Adult T-cell leukemia KEGG: H00009
Alzheimer's disease PMID: 18761660
Atherosclerosis PMID: 17351341
Bladder cancer KEGG: H00022
Burkitt lymphoma KEGG: H00008
Cancer PMID: 8603820
Cholangiocarcinoma KEGG: H00046
Chronic myeloid leukemia KEGG: H00004
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Defective human spermatozoa PMID: 26804237
Diabetes PMID: 17463248, KEGG: H00409
Endometriosis PMID: 11163832
Endometriotic and adenomyotic tissues PMID: 16616093
Esophageal cancer KEGG: H00017
Gallbladder cancer KEGG: H00047
Glioma KEGG: H00042
Hepatocellular carcinoma KEGG: H00048
Laryngeal cancer KEGG: H00055
Malignant melanoma KEGG: H00038
Malignant pleural mesothelioma KEGG: H00015
Mantle cell lymphoma KEGG: H01464
Meningioma KEGG: H01556
Mycosis fungoides KEGG: H01463
Nasopharyngeal cancer KEGG: H00054
Non-small cell lung cancer KEGG: H00014
Oral cancer KEGG: H00016
Osteosarcoma KEGG: H00036
Pancreatic cancer KEGG: H00019
Penile cancer KEGG: H00025
Retinoblastoma KEGG: H01513
Salivary gland cancer KEGG: H01508
Adenomyosis INFBASE16616093
Endometriosis INFBASE11163832
Squamous cell carcinoma KEGG: H00040
Tonsillar cancer KEGG: H01509

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16616093 Endometrio
sis

56 (25 women wi
th endometrioma
s, 31 women wit
h adenomyosis)
p16
pRb
cyclin D1
Show abstract
11163832 Endometrio
sis


p16(Ink4)
GALT
p53
APOA2
Show abstract