Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5111
Gene name Gene Name - the full gene name approved by the HGNC.	Proliferating cell nuclear antigen
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCNA
Synonyms (NCBI Gene) Gene synonyms aliases	ATLD2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ATLD2
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p12.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage,

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SNP ID	Visualize variation	Clinical significance	Consequence
rs369958038	C>A	Pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016528	hsa-miR-193b-3p	Microarray	20304954
MIRT023210	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT030351	hsa-miR-26b-5p	Microarray	19088304
MIRT030631	hsa-miR-24-3p	Reporter assay;Western blot;qRT-PCR	19748357
MIRT050722	hsa-miR-18a-5p	CLASH	23622248
MIRT049960	hsa-miR-30a-5p	CLASH	23622248
MIRT039725	hsa-miR-615-3p	CLASH	23622248
MIRT560227	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT560226	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT560225	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT560224	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT560223	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT560222	hsa-miR-5580-5p	PAR-CLIP	20371350
MIRT560221	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT560220	hsa-miR-4642	PAR-CLIP	20371350
MIRT454878	hsa-miR-548u	PAR-CLIP	21572407
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT454876	hsa-miR-8087	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23446348
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23446348
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23446348
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	24398324
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT454873	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT454872	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	24398324
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	24398324
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454878	hsa-miR-548u	PAR-CLIP	23592263
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	23592263
MIRT454876	hsa-miR-8087	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	26701625
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	26701625
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	26701625
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	26701625
MIRT454873	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT454873	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	26701625
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	26701625
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT454872	hsa-miR-877-5p	PAR-CLIP	26701625
MIRT454872	hsa-miR-877-5p	PAR-CLIP	26701625
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	27292025
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	27292025
MIRT454873	hsa-miR-542-3p	PAR-CLIP	27292025
MIRT454878	hsa-miR-548u	PAR-CLIP	27292025
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	27292025
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	27292025
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	27292025
MIRT454876	hsa-miR-8087	PAR-CLIP	27292025
MIRT454872	hsa-miR-877-5p	PAR-CLIP	27292025
MIRT732824	hsa-miR-527	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33472586
MIRT732851	hsa-miR-28-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33624782
MIRT733817	hsa-miR-451b	qRT-PCR, Western blotting	33725258
MIRT023210	hsa-miR-124-3p	Microarray, qRT-PCR	31788082
MIRT560227	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT560226	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT560225	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT560224	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT560223	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT560222	hsa-miR-5580-5p	PAR-CLIP	20371350
MIRT560221	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT560220	hsa-miR-4642	PAR-CLIP	20371350
MIRT454878	hsa-miR-548u	PAR-CLIP	21572407
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT454876	hsa-miR-8087	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23446348
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23446348
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23446348
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	24398324
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT454873	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT454872	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	24398324
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	24398324
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454878	hsa-miR-548u	PAR-CLIP	23592263
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	23592263
MIRT454876	hsa-miR-8087	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218171	hsa-miR-1269	CLIP-seq
MIRT1218172	hsa-miR-1269b	CLIP-seq
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218173	hsa-miR-154	CLIP-seq
MIRT1218174	hsa-miR-2467-3p	CLIP-seq
MIRT1218175	hsa-miR-3123	CLIP-seq
MIRT1218176	hsa-miR-338-5p	CLIP-seq
MIRT1218177	hsa-miR-345	CLIP-seq
MIRT1218178	hsa-miR-3678-3p	CLIP-seq
MIRT1218179	hsa-miR-3682-5p	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218180	hsa-miR-3919	CLIP-seq
MIRT1218181	hsa-miR-3925-5p	CLIP-seq
MIRT1218182	hsa-miR-3976	CLIP-seq
MIRT1218183	hsa-miR-4263	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT1218184	hsa-miR-4520b-3p	CLIP-seq
MIRT1218185	hsa-miR-4529-3p	CLIP-seq
MIRT1218186	hsa-miR-4699-3p	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218187	hsa-miR-526b	CLIP-seq
MIRT1218188	hsa-miR-570	CLIP-seq
MIRT1218189	hsa-miR-576-5p	CLIP-seq
MIRT1218190	hsa-miR-578	CLIP-seq
MIRT1218191	hsa-miR-877	CLIP-seq
MIRT1218171	hsa-miR-1269	CLIP-seq
MIRT1218172	hsa-miR-1269b	CLIP-seq
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218177	hsa-miR-345	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218183	hsa-miR-4263	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT2063021	hsa-miR-4457	CLIP-seq
MIRT1218184	hsa-miR-4520b-3p	CLIP-seq
MIRT1218185	hsa-miR-4529-3p	CLIP-seq
MIRT2063022	hsa-miR-513b	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218189	hsa-miR-576-5p	CLIP-seq

Transcription factors

Show/Hide all(19)

Transcription factor	Regulation	Reference
AHR	Activation	12417031
ATM	Unknown	22362778
CDX1	Activation	11743638
E2F1	Activation	14618416
EP300	Repression	10618724
EZH2	Activation	21629038
HDAC1	Repression	9650586
HDAC1	Unknown	18691180
HMGN1	Unknown	22393258
HOXA1	Unknown	17213808
ING1	Unknown	18691180
MYC	Unknown	18809243
PRDM1	Unknown	20530581
PURA	Repression	18386260
RB1	Repression	9671466
RFX1	Repression	10336433
TFDP1	Activation	14618416
YY1	Activation	16099430
YY1	Unknown	7479004

Show/Hide all(70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IDA	11005803
GO:0000723	Process	Telomere maintenance	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	23277426
GO:0003682	Function	Chromatin binding	IDA	23277426, 24939902
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0005515	Function	Protein binding	IPI	8861913, 9305916, 10873631, 11005803, 11022036, 11595739, 14657243, 15225546, 15358233, 15543136, 15550930, 15576034, 15805117, 16000169, 16189514, 16482215, 16510448, 16826239, 17955473, 18316726, 18499658, 18692475, 18719106, 19150984, 19419956, 19505873, 19730436, 20457750, 20605
GO:0005634	Component	Nucleus	IDA	15494374, 19734146, 24939902
GO:0005652	Component	Nuclear lamina	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IDA	9774970
GO:0005813	Component	Centrosome	IDA	18331714
GO:0006272	Process	Leading strand elongation	IBA	21873635
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006296	Process	Nucleotide-excision repair, DNA incision, 5'-to lesion	TAS
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	TAS
GO:0006298	Process	Mismatch repair	IBA	21873635
GO:0006298	Process	Mismatch repair	IDA	11005803
GO:0006298	Process	Mismatch repair	TAS
GO:0006977	Process	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS
GO:0007507	Process	Heart development	IEA
GO:0008022	Function	Protein C-terminus binding	IMP	11595739
GO:0016032	Process	Viral process	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016604	Component	Nuclear body	IDA
GO:0019899	Function	Enzyme binding	IPI	24115439
GO:0019985	Process	Translesion synthesis	IBA	21873635
GO:0019985	Process	Translesion synthesis	IDA	20129063
GO:0019985	Process	Translesion synthesis	TAS
GO:0030331	Function	Estrogen receptor binding	IEA
GO:0030337	Function	DNA polymerase processivity factor activity	IBA	21873635
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0030894	Component	Replisome	TAS	24115439
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	17115032
GO:0031297	Process	Replication fork processing	ISS	24115439
GO:0032077	Process	Positive regulation of deoxyribonuclease activity	IDA	19443450
GO:0032139	Function	Dinucleotide insertion or deletion binding	IDA	11005803
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032355	Process	Response to estradiol	IEA
GO:0032405	Function	MutLalpha complex binding	IDA	11005803
GO:0033683	Process	Nucleotide-excision repair, DNA incision	TAS
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0035035	Function	Histone acetyltransferase binding	IPI	24939902
GO:0042276	Process	Error-prone translesion synthesis	TAS
GO:0042769	Process	DNA damage response, detection of DNA damage	TAS
GO:0042802	Function	Identical protein binding	IPI	15805117, 25416956, 26030842, 31515488, 32296183
GO:0043596	Component	Nuclear replication fork	IDA	15543136, 21383955
GO:0043626	Component	PCNA complex	IBA	21873635
GO:0043626	Component	PCNA complex	IDA	24939902
GO:0044849	Process	Estrous cycle	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	11595739
GO:0045739	Process	Positive regulation of DNA repair	IMP	24939902
GO:0045740	Process	Positive regulation of DNA replication	IMP	24939902
GO:0046686	Process	Response to cadmium ion	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070182	Function	DNA polymerase binding	IPI	19995904, 24939902
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070557	Component	PCNA-p21 complex	IDA	11595739, 18794347
GO:0070987	Process	Error-free translesion synthesis	TAS
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1900264	Process	Positive regulation of DNA-directed DNA polymerase activity	IMP	11595739
GO:1902065	Process	Response to L-glutamate	IEA
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	ISS	24115439

MIM	HGNC	e!Ensembl
176740	8729	ENSG00000132646

Protein

UniProt ID

P12004

Protein name

Proliferating cell nuclear antigen (PCNA) (Cyclin)

Protein function

Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand (PubMed:35585232). Induces a robust stimulatory

PDB

1AXC , 1U76 , 1U7B , 1UL1 , 1VYJ , 1VYM , 1W60 , 2ZVK , 2ZVL , 2ZVM , 3JA9 , 3P87 , 3TBL , 3VKX , 3WGW , 4D2G , 4RJF , 4ZTD , 5E0T , 5E0U , 5E0V , 5IY4 , 5MAV , 5MLO , 5MLW , 5MOM , 5YCO , 5YD8 , 6CBI , 6EHT , 6FCM , 6FCN , 6GIS , 6GWS , 6HVO , 6K3A , 6QC0 , 6QCG , 6S1M , 6S1N , 6S1O , 6TNY , 6TNZ , 6VVO , 7EFA , 7KQ0 , 7KQ1 , 7M5L , 7M5M , 7M5N , 7NV0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00705	PCNA_N	1 → 125	Proliferating cell nuclear antigen, N-terminal domain	Domain
PF02747	PCNA_C	127 → 254	Proliferating cell nuclear antigen, C-terminal domain	Domain

Sequence

MFEARLVQGSILKKVLEALKDLINEACWDISSSGVNLQSMDSSHVSLVQLTLRSEGFDTY
RCDRNLAMGVNLTSMSKILKCAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMD
LDVEQLGIPEQEYSCVVKMPSGEFARICRDLSHIGDAVVISCAKDGVKFSASGELGNGNI
KLSQTSNVDKEEEAVTIEMNEPVQLTFALRYLNFFTKATPLSSTVTLSMSADVPLVVEYK
IADMGHLKYYLAPKIEDEEGS

Sequence length

261

Interactions

View interactions

	KEGG		Reactome
	DNA replication Base excision repair Nucleotide excision repair Mismatch repair Cell cycle Tight junction Hepatitis B		Translesion synthesis by REV1 Recognition of DNA damage by PCNA-containing replication complex Translesion Synthesis by POLH Transcription of E2F targets under negative control by DREAM complex Polymerase switching on the C-strand of the telomere Processive synthesis on the C-strand of the telomere Telomere C-strand (Lagging Strand) Synthesis Removal of the Flap Intermediate from the C-strand SUMOylation of DNA replication proteins Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) PCNA-Dependent Long Patch Base Excision Repair Translesion synthesis by POLK Translesion synthesis by POLI Termination of translesion DNA synthesis HDR through Homologous Recombination (HRR) Gap-filling DNA repair synthesis and ligation in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Polymerase switching Removal of the Flap Intermediate Processive synthesis on the lagging strand G1/S-Specific Transcription E3 ubiquitin ligases ubiquitinate target proteins

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	19028472
Ataxia-telangiectasia-like disorder	ATAXIA-TELANGIECTASIA-LIKE DISORDER, ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	rs137852759, rs137852761, rs137852762, rs587781381, rs587781384, rs371077728, rs587781822, rs745677716, rs774277300, rs774440500, rs786203931, rs786202253, rs747832587, rs863224508, rs779269083 View all (26 more)	24911150
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	19028472
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	19723570, 19028472
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hepatoblastoma	Hepatoblastoma	rs137854578, rs28934573, rs121913412	11560253
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	11884234
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	10384915

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain	20932960	ClinVar
Ataxia-Telangiectasia-Like Disorder	ataxia-telangiectasia-like disorder 2		GenCC

Show/Hide Text Mining Associations (292)

Disease Name	Relationship Type	References
Associations from Text Mining
Acth Independent Macronodular Adrenal Hyperplasia	Associate	32267363, 8536140
Adenocarcinoma	Associate	21031434, 7913734
Adenocarcinoma	Stimulate	22824771, 7909306
Adenocarcinoma Bronchiolo Alveolar	Inhibit	10647609
Adenocarcinoma of Lung	Associate	25816409, 30867372, 32323791, 34257530, 34887322, 37755128, 7911024
Adenoma	Associate	16584090, 21655641, 22824771, 7706518
Adenoma Pleomorphic	Associate	15287541, 34884420, 34986855
Adenomyosis	Associate	33531043
Aging Premature	Associate	36990216
Alagille Syndrome	Associate	22684921
Alcoholism	Associate	11511565
Alternating hemiplegia of childhood	Associate	31633027, 34879271
Alzheimer Disease	Associate	9525997
Amaurosis hypertrichosis	Associate	29322253
Ameloblastoma	Associate	16113935, 18329695, 21712626, 22842243, 23229269
Ameloblastoma	Inhibit	9762365
Amyotrophic Lateral Sclerosis	Associate	28852778, 35231559, 37993492
Anal Canal Carcinoma	Associate	7706518
Anal Gland Neoplasms	Associate	10195031
Arrest of spermatogenesis	Associate	14607570
Arteriovenous Malformations	Associate	16565580
Arthritis Rheumatoid	Associate	10211880, 11406522
Arthritis Rheumatoid	Stimulate	26847678
Asthma	Associate	29956778
Astrocytoma	Associate	19127042, 8523105, 9155045
Ataxia Telangiectasia Like Disorder	Associate	36990216, 37511614
Azoospermia	Associate	14607570, 28853108
Barrett Esophagus	Associate	1351861
Barrett Esophagus	Inhibit	25740071
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Stimulate	16838056
Biliary Tract Neoplasms	Associate	8826860
Bone Neoplasms	Associate	8386171
Brain Neoplasms	Associate	1363339, 8523105
Breast Neoplasms	Associate	10646896, 1350788, 16006774, 17159154, 18949048, 19242061, 1972000, 22238610, 22384035, 22548824, 22799305, 23222412, 24205370, 24283290, 25190177 View all (10 more)
Breast Neoplasms Male	Associate	20152033
Calcinosis	Associate	12455237
Carcinogenesis	Associate	15754413, 22745723, 24637615, 36068491, 8430082
Carcinoma	Associate	24326646, 26847678
Carcinoma Adenoid Cystic	Associate	30051681
Carcinoma Basal Cell	Associate	12854173
Carcinoma Endometrioid	Associate	11419970, 29633253
Carcinoma Hepatocellular	Associate	11511787, 12439921, 12632497, 1346735, 14669354, 14716820, 14754512, 15133847, 15754413, 15884108, 17245342, 17724810, 18521065, 19104702, 21410269 View all (16 more)
Carcinoma Large Cell	Associate	16101161
Carcinoma Mucoepidermoid	Associate	10810331, 37175975
Carcinoma Non Small Cell Lung	Associate	10817513, 10862203, 12177790, 14693837, 16101161, 23918304, 25229643, 26422603, 32311975, 32945381, 33658396, 7797603, 7904273, 7911024, 7962523, 8099466 View all (1 more)
Carcinoma Ovarian Epithelial	Associate	10320143
Carcinoma Renal Cell	Associate	32009115, 9624550
Carcinoma Small Cell	Associate	7904273
Carcinoma Squamous Cell	Associate	12854173, 1352943, 21136231, 24061459, 26030731, 27814385, 35024732, 36082904, 7911122
Carcinoma Squamous Cell	Stimulate	25013792, 7909306, 7911024
Carcinoma Transitional Cell	Associate	24304017, 9179692, 9477184, 9712438
Cardiomyopathy Dilated	Associate	12354434
Cartilage Diseases	Associate	12455237
Cataract	Associate	22763828
Chemical and Drug Induced Liver Injury	Associate	39930826
Cholesteatoma	Associate	18347258, 24311896
Cockayne Syndrome	Associate	10536158
Colonic Neoplasms	Associate	17569127
Colorectal Neoplasms	Associate	10777845, 12854146, 14669354, 16437675, 17592558, 19550124, 19661314, 22824771, 29794421, 32885893, 33142138, 36037145, 36820595, 37316878, 37324189, 37347740, 8556950, 9149129, 9434128 View all (4 more)
Condylomata Acuminata	Stimulate	7909306
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24911150
Corneal Perforation	Associate	29508125
COVID 19	Associate	35677658, 40015257
Cushing Syndrome	Associate	18366613
Dentigerous Cyst	Associate	18449109
Developmental Disabilities	Associate	27624574
Diabetes Mellitus	Associate	30478982
Diabetes Mellitus Type 2	Associate	22763828
Diarrhea 5 With Tufting Enteropathy Congenital	Stimulate	19325208
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	19680198
Disease	Inhibit	10862203
DNA Repair Deficiency Disorders	Associate	27131875, 28073635, 36990216
DNA Virus Infections	Associate	24911150, 30165463
Endometrial Neoplasms	Associate	11419970, 11920468, 17106521
Endometriosis	Associate	32112646
Ependymoma	Associate	30649797
Epidermal Cyst	Associate	7904405
Epilepsy Partial with Variable Foci	Associate	23439433
Epiretinal Membrane	Associate	16361676
Epstein Barr Virus Infections	Stimulate	36315425
Esophageal Neoplasms	Associate	15991276, 22134872, 22938416, 28348485
Esophageal Squamous Cell Carcinoma	Associate	11570573, 1351861
Esophagitis	Associate	12854173, 32885893
Fanconi Anemia	Associate	20937699
Fatty Liver	Associate	30786689
Fetal Growth Retardation	Associate	33443097
Fibrocartilaginous embolism	Associate	29466672
Fibrosis	Associate	12164086, 17318196
Focal Nodular Hyperplasia	Associate	30178842
Friedreich Ataxia 1	Associate	40432442
Frontotemporal Dementia	Associate	28852778, 35231559, 37993492
Gallbladder Neoplasms	Associate	15832413
Gastritis	Associate	10623670, 11153608, 16830287
Gastroesophageal Reflux	Stimulate	25740071
Gastrointestinal Stromal Tumors	Associate	16489674, 17230613
Giant Cell Tumor of Tendon Sheath	Associate	11081840
Glioblastoma	Associate	10645226
Glioma	Associate	10848585, 19127042, 32885893, 33557829
Glioma	Stimulate	22905804, 30225541
Glomerulonephritis IGA	Associate	15208647
Glomerulonephritis Membranoproliferative	Associate	15717643
Glomerulosclerosis Focal Segmental	Associate	11471036
Glomerulosclerosis Focal Segmental	Stimulate	36374911
Granulosa cell tumor of the ovary	Associate	19050800
Graves Disease	Associate	11422195
Growth Disorders	Associate	24911150
Growth Hormone Secreting Pituitary Adenoma	Inhibit	16584090
Hearing Loss	Associate	24911150
Hemangioma	Associate	23298485, 29268640
Hemangioma Cavernous	Associate	16565580
Hepatic Encephalopathy	Associate	24346482
Hepatitis Autoimmune	Associate	9602695
Hepatitis B	Associate	12164086, 16542372
Hepatitis B	Stimulate	12632497
Hepatitis B Chronic	Associate	16542372
Hepatitis C Chronic	Associate	30786689
Hepatitis Chronic	Associate	12632497
Hepatitis Viral Human	Associate	12164086
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30394935
Hereditary leiomyomatosis and renal cell cancer	Stimulate	16962107
Hereditary leiomyomatosis and renal cell cancer	Associate	8100573
Histiocytic Sarcoma	Associate	30626916
Hodgkin Disease	Associate	10690394, 15389259, 8100573
Huntington Disease	Associate	12853570
Hydatidiform Mole	Associate	11737472
Hyperkeratosis Epidermolytic	Associate	7904405
Hyperoxia	Associate	12936910
Hyperplasia	Stimulate	8781414
Hypoxia	Stimulate	34942165
Ichthyosis Vulgaris	Inhibit	7904405
Ichthyosis X Linked	Inhibit	7904405
Infections	Associate	23317197
Infections	Stimulate	33500339
Infertility	Associate	32112646
Inflammation	Associate	36042612, 37737195
Intestinal Diseases	Inhibit	11153608
Intestinal Diseases	Stimulate	24151393
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	24098681, 33443097
Keratoacanthoma	Associate	35024732
Keratosis Actinic	Associate	10429981
Kidney Diseases	Associate	11471036, 15208647
Kidney Diseases Cystic	Associate	18449109
Kidney Neoplasms	Associate	30819726
Laminopathies	Associate	28515154, 29753763
Laryngeal Diseases	Associate	23317197
Laryngeal Neoplasms	Associate	23317197
Leber Congenital Amaurosis	Associate	29322253
Leiomyoma	Associate	10426571, 16294022, 34323413, 34942165, 36771423, 9654192
Leiomyosarcoma	Associate	9654192
Leukemia	Associate	10797445, 1350226
Leukemia Biphenotypic Acute	Associate	36291073
Leukemia Lymphocytic Chronic B Cell	Associate	1350226
Leukemia Lymphoma Adult T Cell	Stimulate	19131553
Leukemia Lymphoma Adult T Cell	Associate	2713499
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	31646577
Leukemia Myeloid	Associate	11090075
Leukemia Myeloid Acute	Associate	10797445, 1975505, 28498449, 30832756
Leukemia Myeloid Acute	Stimulate	24615181
Lichen Planus Oral	Associate	19325208, 19680198
Liver Cirrhosis	Associate	12632497, 1346735
Liver Diseases	Associate	12632497
Liver Neoplasms	Stimulate	9577372
Lung Diseases	Stimulate	10777845
Lung Diseases	Associate	15967114, 9624550
Lung Diseases Interstitial	Associate	8780388
Lung Neoplasms	Associate	15967114, 24012694, 29940632, 32596300, 35501353, 7547229, 7911024, 7913734
Lupus Erythematosus Systemic	Associate	16542372, 2571644
Lupus Nephritis	Associate	15717643
Lymphatic Metastasis	Associate	10862203, 12532471, 16124066, 17380020, 19661314
Lymphatic Metastasis	Stimulate	23934455, 31128028
Lymphoma	Associate	1358164, 16450771, 7907607
Lymphoma B Cell Marginal Zone	Stimulate	10623670
Lymphoma Follicular	Associate	24660851
Lymphoma Large Cell Immunoblastic	Associate	1415484
Lymphoma Mantle Cell	Associate	20530581
Lymphoma Non Hodgkin	Associate	1358164, 7907610, 8094401
Lymphoma Primary Effusion	Associate	10873769, 15271792
Lymphoma T Cell	Associate	15656903
Malformations of Cortical Development	Associate	8536140
Melanoma	Inhibit	24850177
Melanoma Cutaneous Malignant	Associate	24850177
Melanosis	Associate	9924341
Meningioma	Associate	15330178, 16634530, 18379871, 20150366, 7623949
Mesothelioma	Associate	32885893
Mouth Neoplasms	Associate	32329847
Multiple Myeloma	Associate	15000866, 22350072, 35536760, 35563109
Myocardial Infarction	Associate	40587682
Myotonic Dystrophy	Inhibit	22763828
Nasopharyngeal Carcinoma	Associate	28429677, 29367693
Neoplasm Invasiveness	Associate	14669354, 17589931, 27784970
Neoplasm Invasiveness	Stimulate	23404407
Neoplasm Metastasis	Associate	1353364, 28281966, 31128028, 32311975, 32529870, 9624550
Neoplasm Metastasis	Stimulate	14669354
Neoplasms	Associate	10320143, 10647609, 10749590, 10777845, 10817513, 10862203, 10873769, 11081840, 11570573, 12455237, 12471003, 12532471, 1346735, 1353364, 1356162 View all (123 more)
Neoplasms	Stimulate	11153608, 11254220, 11419970, 17697357, 21206164, 7576290
Neoplasms	Inhibit	7841053
Neoplasms Glandular and Epithelial	Associate	23264211
Neoplasms Squamous Cell	Associate	24114512
Nephritis Interstitial	Associate	15717643
Neuroblastoma	Associate	25190177, 26844271, 27866306, 8093685, 9006330, 9348340
Neurodegenerative Diseases	Associate	24911150, 27624574, 36990216, 37511614
Non alcoholic Fatty Liver Disease	Associate	30786689
Oculocutaneous albinism type 2	Stimulate	25621687
Odontogenic Cyst Calcifying	Associate	21206164
Odontogenic Cysts	Associate	18449109, 24025887, 29508125, 36226690, 9762365
Odontogenic Tumors	Associate	21712626, 24025887, 28512636
Odontoma	Associate	22842243, 23229269
Osteoarthritis	Associate	32633338
Osteosarcoma	Stimulate	33797312
Osteosarcoma	Associate	36031605, 37118828, 7534293, 8750062
Ovarian Neoplasms	Associate	10320143, 15028555, 27806724, 29633253, 31128028, 7841053, 9266754
Pancreatic Intraductal Neoplasms	Associate	36056133
Pancreatic Neoplasms	Associate	12532471, 16124066, 25017645
Papilloma Inverted	Associate	25013792, 7576290
Parathyroid Neoplasms	Associate	16619538
Parkinson Disease	Associate	25675097
Periapical Diseases	Associate	23264211
Periodic fever familial autosomal dominant	Associate	40015257
Peritoneal Diseases	Associate	12524084
Peritonitis	Associate	17589931
Personality Disorders	Associate	34996912, 35945910
Photosensitivity Disorders	Stimulate	7904405
Pituitary Neoplasms	Associate	16584090, 24636138
Pituitary Neoplasms	Stimulate	23404407
Pityriasis Rubra Pilaris	Inhibit	7904405
Pneumonia	Stimulate	14502140
Polycystic Ovary Syndrome	Associate	15820804
Polyposis Syndrome Hereditary Mixed 1	Associate	22824771
Polyps	Associate	7706518
Pre Eclampsia	Stimulate	36834513
Precancerous Conditions	Stimulate	23372365
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	36291073
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30303535, 36291073, 39866226
Prolactinoma	Associate	16584090
Prostatic Hyperplasia	Stimulate	33148606
Prostatic Neoplasms	Associate	21031434, 21867506, 30864712, 32885893, 33218199, 33522043, 9615190
Prostatitis	Associate	10347785, 11254220
Psoriasis	Associate	2571644
Psoriasis	Stimulate	7904405
Pterygium	Stimulate	21738398
Pulmonary Disease Chronic Obstructive	Inhibit	25058453
Pulmonary Disease Chronic Obstructive	Stimulate	28537664
Purpura Thrombocytopenic Idiopathic	Associate	26628061
Radiation Injuries	Associate	9610028
Radicular Cyst	Associate	18449109
Rectal Neoplasms	Associate	27784970
Retinal Dysplasia	Associate	17106526, 22824771, 32701997
Retinoblastoma	Associate	32329827
Rhabdoid Tumor	Associate	21092078
Salivary Gland Neoplasms	Associate	10810331, 15287541, 26247885
Sarcoma	Associate	20186824, 35689249
Sarcoma Endometrial Stromal	Associate	1357005
Scleroderma Diffuse	Associate	16207328
Sialadenitis	Associate	11555398
Sjogren's Syndrome	Associate	11555398
Skin Diseases	Associate	20496072
Sleep Apnea Obstructive	Associate	35132330
Small Cell Lung Carcinoma	Associate	10219898, 29845250, 7797603
Smooth Muscle Tumor	Associate	10656730
Soft Tissue Neoplasms	Associate	18019405
Squamous Cell Carcinoma of Head and Neck	Stimulate	19680198
Squamous Cell Carcinoma of Head and Neck	Associate	20881335, 23317197, 26152289, 31210306, 31672124, 9313825, 9422082
Squamous Intraepithelial Lesions	Associate	24061459
Stomach Diseases	Associate	15962383
Stomach Neoplasms	Associate	10679740, 11932915, 12439914, 15052671, 17380020, 17589931, 18629780, 23058008, 23755751, 23934455, 24151393, 24375258, 24441189, 24712400, 24956340 View all (13 more)
Succinate Coa Ligase Deficiency	Associate	20010813
Synovitis	Associate	11081840
Telangiectasis	Associate	24911150, 36990216
Testicular Neoplasms	Associate	32885893
Thyroid Cancer Papillary	Associate	18470905, 8881917
Thyroid Neoplasms	Associate	12471003, 22350610, 37864896, 8546897
Thyroid Nodule	Associate	14754512, 21655641
Toxoplasmosis	Stimulate	33500339
Triple Negative Breast Neoplasms	Associate	28075450
Tuberculosis Pulmonary	Stimulate	38075560
Urachal cancer	Associate	36082904
Urethral Neoplasms	Associate	18334837
Urethritis	Associate	36082904
Urinary Bladder Neoplasms	Associate	1353364, 19846907, 26987391, 29532898, 32885893, 34861846, 36232303, 38280406, 8749948, 9179692, 9477184
Urologic Diseases	Associate	36082904
Urologic Neoplasms	Associate	36082904
Uterine Cervical Dysplasia	Associate	24061459, 35379200
Uterine Cervical Dysplasia	Stimulate	7909306
Uterine Cervical Neoplasms	Associate	16681749, 16838056, 17466038, 19389243, 24061459, 24403257, 25921283, 28963664, 29427865, 31337953, 32885893, 33302814, 36694148
Uterine Cervical Neoplasms	Stimulate	28682441
Uterine Cervicitis	Associate	7902617
Uterine Diseases	Associate	25144715
Uveal melanoma	Associate	30107825
Vascular System Injuries	Associate	14502140
Warts	Associate	1352943
Werner Syndrome	Associate	20600238
Xeroderma Pigmentosum Complementation Group B	Associate	10536158

PCNA (proliferating cell nuclear antigen)