Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PCNA Gene

Aliases for PCNA Gene

  • Proliferating Cell Nuclear Antigen 2 3 5
  • Cyclin 3 4
  • DNA Polymerase Delta Auxiliary Protein 3
  • ATLD2 3

External Ids for PCNA Gene

Previous GeneCards Identifiers for PCNA Gene

  • GC20M005083
  • GC20M005090
  • GC20M005043
  • GC20M005095

Summaries for PCNA Gene

Entrez Gene Summary for PCNA 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, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCNA Gene

PCNA (Proliferating Cell Nuclear Antigen) is a Protein Coding gene. Diseases associated with PCNA include Ataxia-Telangiectasia-Like Disorder and Bowen's Disease. Among its related pathways are E2F mediated regulation of DNA replication and HTLV-I infection. GO annotations related to this gene include identical protein binding and damaged DNA binding.

UniProtKB/Swiss-Prot for PCNA Gene

  • Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerases processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3-5 exonuclease and 3-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways (PubMed:24939902). Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: Monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while Lys-63-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion.

Gene Wiki entry for PCNA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCNA Gene

Genomics for PCNA Gene

Regulatory Elements for PCNA Gene

Enhancers for PCNA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F005116 0.6 ENCODE 31.9 +7.7 7694 3.9 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 PCNA TMEM230 MCM8 CDS2 ENSG00000252367 PCNA-AS1
GH20F004612 1.3 Ensembl ENCODE 22.6 +512.7 512688 2.2 ZFP64 RAD21 ZEB1 ZNF138 ZNF354C ZNF366 CBX5 ZNF202 ZNF362 ZNF654 ENSG00000229539 PCNA PRNP CDS2 RPS4XP2 RPL7AP12
GH20F004129 0.7 Ensembl 13.6 +997.1 997126 0.2 CEBPG RARA GTF3C2 POLR3A ADNP NR2F6 FOS PRDM10 NR2F1 CEBPB PCNA SMOX GC20P004170
GH20F004726 0.8 Ensembl ENCODE 13.6 +399.5 399519 1.4 PKNOX1 INSM2 KLF17 MAX HIC1 FOS CREM ZBTB20 EGR2 ZNF639 PCNA PRNP LOC100421361 PRND
GH20F005152 1.1 Ensembl ENCODE 12.8 -27.0 -27035 3.1 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 PPARG KAT8 CDS2 PCNA ENSG00000212517 TMEM230 LOC100421361 PRNT PIR42702 GC20P005167
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PCNA on UCSC Golden Path with GeneCards custom track

Promoters for PCNA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000008072 -474 2601 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for PCNA Gene

Chromosome:
20
Start:
5,114,953 bp from pter
End:
5,126,626 bp from pter
Size:
11,674 bases
Orientation:
Minus strand

Genomic View for PCNA Gene

Genes around PCNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCNA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCNA Gene

Proteins for PCNA Gene

  • Protein details for PCNA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12004-PCNA_HUMAN
    Recommended name:
    Proliferating cell nuclear antigen
    Protein Accession:
    P12004
    Secondary Accessions:
    • B2R897
    • D3DW02

    Protein attributes for PCNA Gene

    Size:
    261 amino acids
    Molecular mass:
    28769 Da
    Quaternary structure:
    • Homotrimer (PubMed:24939902). Interacts with p300/EP300; the interaction occurs on chromatin in UV-irradiated damaged cells (PubMed:24939902). Interacts with CREBBP (via transactivation domain and C-terminus); the interaction occurs on chromatin in UV-irradiated damaged cells (PubMed:24939902). Directly interacts with POLD1, POLD3 and POLD4 subunits of the DNA polymerase delta complex, POLD3 being the major interacting partner; the interaction with POLD3 is inhibited by CDKN1A/p21(CIP1) (PubMed:11595739, PubMed:16510448, PubMed:22148433, PubMed:24939902). Forms a complex with activator 1 heteropentamer in the presence of ATP. Interacts with EXO1, POLH, POLK, DNMT1, ERCC5, FEN1, CDC6 and POLDIP2 (PubMed:9305916, PubMed:9302295, PubMed:9566895, PubMed:11784855, PubMed:12522211, PubMed:15225546, PubMed:15149598, PubMed:24911150, PubMed:15616578). Interacts with APEX2; this interaction is triggered by reactive oxygen species and increased by misincorporation of uracil in nuclear DNA (PubMed:11376153, PubMed:19443450). Forms a ternary complex with DNTTIP2 and core histone (PubMed:12786946). Interacts with KCTD10 and PPP1R15A (By similarity). Directly interacts with BAZ1B (PubMed:15543136). Interacts with HLTF and SHPRH (PubMed:17130289, PubMed:18316726, PubMed:18719106). Interacts with NUDT15; this interaction is disrupted in response to UV irradiation and acetylation (PubMed:19419956). Interacts with CDKN1A/p21(CIP1) and CDT1; interacts via their PIP-box which also recruits the DCX(DTL) complex. The interaction with CDKN1A inhibits POLD3 binding (PubMed:11595739, PubMed:16949367, PubMed:18794347, PubMed:18703516). Interacts with DDX11 (PubMed:18499658). Interacts with EGFR; positively regulates PCNA (PubMed:17115032). Interacts with PARPBP (PubMed:22153967). Interacts (when ubiquitinated) with SPRTN; leading to enhance RAD18-mediated PCNA ubiquitination (PubMed:22681887). Interacts (when polyubiquitinated) with ZRANB3 (PubMed:22704558, PubMed:22705370, PubMed:22759634). Interacts with SMARCAD1 (PubMed:21549307). Interacts with CDKN1C (PubMed:22634751). Interacts with KIAA0101/PAF15 (via PIP-box) (PubMed:21628590, PubMed:23000965). Interacts with RTEL1 (via PIP-box); the interaction is direct and essential for the suppression of telomere fragility (PubMed:24115439). Interacts with FAM111A (via PIP-box); the interaction is direct and required for PCNA loading on chromatin binding (PubMed:24561620). Interacts with LIG1 (PubMed:24911150). Interacts with SETMAR (PubMed:20457750). Interacts with ANKRD17 (PubMed:23711367). Interacts with FBXO18/FBH1 (via PIP-box); the interaction recruits the DCX(DTL) complex and promotes ubiquitination and degradation of FBXO18/FBH1 (PubMed:23677613).
    Miscellaneous:
    • Antibodies against PCNA are present in sera from patients with systemic lupus erythematosus.

    Three dimensional structures from OCA and Proteopedia for PCNA Gene

neXtProt entry for PCNA Gene

Post-translational modifications for PCNA Gene

  • Acetylated by CREBBP and p300/EP300; preferentially acetylated by CREBBP on Lys-80, Lys-13 and Lys-14 and on Lys-77 by p300/EP300 upon loading on chromatin in response to UV irradiation (PubMed:24939902, PubMed:19419956). Lysine acetylation disrupts association with chromatin, hence promoting PCNA ubiquitination and proteasomal degradation in response to UV damage in a CREBBP- and EP300-dependent manner (PubMed:24939902). Acetylation disrupts interaction with NUDT15 and promotes degradation (PubMed:19419956).
  • Methylated on glutamate residues by ARMT1/C6orf211.
  • Phosphorylated. Phosphorylation at Tyr-211 by EGFR stabilizes chromatin-associated PCNA.
  • Ubiquitinated (PubMed:24939902, PubMed:20227374). Following DNA damage, can be either monoubiquitinated to stimulate direct bypass of DNA lesions by specialized DNA polymerases or polyubiquitinated to promote recombination-dependent DNA synthesis across DNA lesions by template switching mechanisms. Following induction of replication stress, monoubiquitinated by the UBE2B-RAD18 complex on Lys-164, leading to recruit translesion (TLS) polymerases, which are able to synthesize across DNA lesions in a potentially error-prone manner. An error-free pathway also exists and requires non-canonical polyubiquitination on Lys-164 through Lys-63 linkage of ubiquitin moieties by the E2 complex UBE2N-UBE2V2 and the E3 ligases, HLTF, RNF8 and SHPRH. This error-free pathway, also known as template switching, employs recombination mechanisms to synthesize across the lesion, using as a template the undamaged, newly synthesized strand of the sister chromatid. Monoubiquitination at Lys-164 also takes place in undamaged proliferating cells, and is mediated by the DCX(DTL) complex, leading to enhance PCNA-dependent translesion DNA synthesis. Sumoylated during S phase.
  • Ubiquitination at Lys 13, Lys 77, Lys 110, Lys 117, Lys 138, Lys 164, Lys 181, Lys 248, and Lys 254
  • Modification sites at PhosphoSitePlus

Other Protein References for PCNA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PCNA (PCNA)

No data available for DME Specific Peptides for PCNA Gene

Domains & Families for PCNA Gene

Graphical View of Domain Structure for InterPro Entry

P12004

UniProtKB/Swiss-Prot:

PCNA_HUMAN :
  • Belongs to the PCNA family.
Family:
  • Belongs to the PCNA family.
genes like me logo Genes that share domains with PCNA: view

No data available for Gene Families for PCNA Gene

Function for PCNA Gene

Molecular function for PCNA Gene

GENATLAS Biochemistry:
cell-cycle regulated nuclear protein,proliferating cell nuclear antigen,complexing with RFCs to form a processivity factor (sliding clamp),for DNA polymerases delta and epsilon,also complexing with RFC,FEN1,GADD45,MSH2,MLH1,CDKN1A,LIG1,also involved in nucleotide mismatch repair (MM) and nucleotide excision repair (NER)
UniProtKB/Swiss-Prot Function:
Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerases processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3-5 exonuclease and 3-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways (PubMed:24939902). Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: Monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while Lys-63-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion.

Gene Ontology (GO) - Molecular Function for PCNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000701 purine-specific mismatch base pair DNA N-glycosylase activity IDA 11005803
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 24939902
GO:0003684 damaged DNA binding IDA 24939902
GO:0005515 protein binding IPI 9305916
genes like me logo Genes that share ontologies with PCNA: view
genes like me logo Genes that share phenotypes with PCNA: view

Human Phenotype Ontology for PCNA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCNA Gene

MGI Knock Outs for PCNA:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCNA

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PCNA Gene

Localization for PCNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCNA Gene

Nucleus. Note=Colocalizes with CREBBP, EP300 and POLD1 to sites of DNA damage (PubMed:24939902). Forms nuclear foci representing sites of ongoing DNA replication and vary in morphology and number during S phase. Together with APEX2, is redistributed in discrete nuclear foci in presence of oxidative DNA damaging agents. {ECO:0000269 PubMed:24939902}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCNA Gene COMPARTMENTS Subcellular localization image for PCNA gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 3
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PCNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005634 nucleus IEA,IDA 15494374
GO:0005654 nucleoplasm IDA,TAS --
GO:0005657 replication fork IDA 9774970
GO:0005663 DNA replication factor C complex TAS 2565339
genes like me logo Genes that share ontologies with PCNA: view

Pathways & Interactions for PCNA Gene

SuperPathways for PCNA Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
2 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
3 Mismatch repair
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 DNA Double-Strand Break Repair
genes like me logo Genes that share pathways with PCNA: view

SIGNOR curated interactions for PCNA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PCNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
GO:0006260 DNA replication IEA --
genes like me logo Genes that share ontologies with PCNA: view

Drugs & Compounds for PCNA Gene

(84) Drugs for PCNA Gene - From: ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1296
Nelarabine Approved, Investigational Pharma Prodrug of ara-G for T-LBL/T-ALL 0
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1412
Uridine Experimental Pharma 0
VIT-100 Investigational Pharma 0

(60) Additional Compounds for PCNA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(10) ApexBio Compounds for PCNA Gene

Compound Action Cas Number
Adenine sulfate Sulfate salt form of adenine 321-30-2
Blasticidin S HCl 3513-03-9
Capecitabine 154361-50-9
Carmofur Cytostatic derivative of fluorouracilm,antineoplatic agent 61422-45-5
Gemcitabine HCl Inhibits DNA synthesis,deoxycytidine analog 122111-03-9
Mercaptopurine (6-MP) Purine synthesis inhibitor 50-44-2
Nelarabine Prodrug of ara-G for T-LBL/T-ALL 121032-29-9
Oxaliplatin Antitumor agent 61825-94-3
Rifaximin (Xifaxan) RNA synthesis inhibitor, PXR activator 80621-81-4
Uridine 58-96-8
genes like me logo Genes that share compounds with PCNA: view

Transcripts for PCNA Gene

mRNA/cDNA for PCNA Gene

Unigene Clusters for PCNA Gene

Proliferating cell nuclear antigen:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCNA

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCNA Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2: - - - -
SP3: -
SP4:
SP5: -

Relevant External Links for PCNA Gene

GeneLoc Exon Structure for
PCNA
ECgene alternative splicing isoforms for
PCNA

Expression for PCNA Gene

mRNA expression in normal human tissues for PCNA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCNA Gene

This gene is overexpressed in Bone (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCNA Gene



Protein tissue co-expression partners for PCNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCNA Gene:

PCNA

SOURCE GeneReport for Unigene cluster for PCNA Gene:

Hs.147433
genes like me logo Genes that share expression patterns with PCNA: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PCNA Gene

Orthologs for PCNA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCNA 34 35
  • 99.11 (n)
oppossum
(Monodelphis domestica)
Mammalia PCNA 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcna-ps2 35
  • 96 (a)
OneToMany
Pcna 34 16 35
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia PCNA 34 35
  • 92.46 (n)
dog
(Canis familiaris)
Mammalia PCNA 34 35
  • 92.21 (n)
rat
(Rattus norvegicus)
Mammalia Pcna 34
  • 89.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCNA 35
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCNA 34 35
  • 83.14 (n)
lizard
(Anolis carolinensis)
Reptilia PCNA 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcna 34
  • 79.69 (n)
Str.6228 34
African clawed frog
(Xenopus laevis)
Amphibia pcna-A 34
zebrafish
(Danio rerio)
Actinopterygii pcna 34 35
  • 77.13 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10814 34
fruit fly
(Drosophila melanogaster)
Insecta mus209 36 34 35
  • 65.89 (n)
CG10262 36 35
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010220 34
  • 63.85 (n)
worm
(Caenorhabditis elegans)
Secernentea pcn-1 36 34 35
  • 54.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL309W 34
  • 50.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL30 34 35 37
  • 47.29 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12078g 34
  • 46.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PCNA2 34
  • 64.86 (n)
soybean
(Glycine max)
eudicotyledons Gma.431 34
rice
(Oryza sativa)
Liliopsida Os02g0805200 34
  • 64.09 (n)
Os.3376 34
barley
(Hordeum vulgare)
Liliopsida Hv.6407 34
wheat
(Triticum aestivum)
Liliopsida Ta.2876 34
corn
(Zea mays)
Liliopsida Zm.531 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09239 34
  • 56.11 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pcn1 34
  • 53.23 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3511 34
Species where no ortholog for PCNA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PCNA Gene

ENSEMBL:
Gene Tree for PCNA (if available)
TreeFam:
Gene Tree for PCNA (if available)

Paralogs for PCNA Gene

Pseudogenes.org Pseudogenes for PCNA Gene

genes like me logo Genes that share paralogs with PCNA: view

No data available for Paralogs for PCNA Gene

Variants for PCNA Gene

Sequence variations from dbSNP and Humsavar for PCNA Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs369958038 Ataxia-telangiectasia-like disorder 2 (ATLD2) [MIM:615919], Pathogenic 5,115,472(+) ACATA(A/C)TGAGT reference, missense
rs1050525 -- 5,119,682(-) CAGAG(A/C)ATGGA nc-transcript-variant, reference, missense
rs10712798 -- 5,121,387(+) TTTCC(-/T)TTTTT intron-variant, upstream-variant-2KB
rs10712799 -- 5,121,962(+) ATTTC(-/T)TTTTT intron-variant, upstream-variant-2KB
rs11087673 -- 5,120,548(+) TTTTT(-/TT)CAAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PCNA Gene

Variant ID Type Subtype PubMed ID
nsv1066860 CNV gain 25217958
nsv428375 CNV loss 18775914
nsv833902 CNV loss 17160897

Variation tolerance for PCNA Gene

Residual Variation Intolerance Score: 56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCNA Gene

Human Gene Mutation Database (HGMD)
PCNA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCNA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCNA Gene

Disorders for PCNA Gene

MalaCards: The human disease database

(41) MalaCards diseases for PCNA Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia-like disorder
  • ataxia-telangiectasia-like disorder 1
bowen's disease
  • bowens disease
ataxia-telangiectasia
  • ataxia telangiectasia
oral leukoplakia
  • leukoplakia oral
ovarian mucinous cystadenocarcinoma
  • mucinous cystadenocarcinoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search PCNA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCNA_HUMAN
  • Ataxia-telangiectasia-like disorder 2 (ATLD2) [MIM:615919]: A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity. {ECO:0000269 PubMed:24911150}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCNA

Genetic Association Database (GAD)
PCNA
Human Genome Epidemiology (HuGE) Navigator
PCNA
Tumor Gene Database (TGDB):
PCNA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCNA
genes like me logo Genes that share disorders with PCNA: view

No data available for Genatlas for PCNA Gene

Publications for PCNA Gene

  1. Proliferating cell nuclear antigen is protected from degradation by forming a complex with MutT Homolog2. (PMID: 19419956) Yu Y. … Zhu W.-G. (J. Biol. Chem. 2009) 3 4 22 64
  2. Role of PCNA-dependent stimulation of 3'-phosphodiesterase and 3'-5' exonuclease activities of human Ape2 in repair of oxidative DNA damage. (PMID: 19443450) Burkovics P. … Haracska L. (Nucleic Acids Res. 2009) 3 4 22 64
  3. The DNA repair endonuclease XPG binds to proliferating cell nuclear antigen (PCNA) and shares sequence elements with the PCNA-binding regions of FEN-1 and cyclin-dependent kinase inhibitor p21. (PMID: 9305916) Gary R. … Park M.S. (J. Biol. Chem. 1997) 3 4 22 64
  4. Structure of the human gene for the proliferating cell nuclear antigen. (PMID: 2565339) Travali S. … Calabretta B. (J. Biol. Chem. 1989) 2 3 4 64
  5. Nascent chromatin capture proteomics determines chromatin dynamics during DNA replication and identifies unknown fork components. (PMID: 24561620) Alabert C. … Groth A. (Nat. Cell Biol. 2014) 3 4 64

Products for PCNA Gene

Sources for PCNA Gene

Content
Loading form....