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Aliases for PHF20 Gene

Aliases for PHF20 Gene

  • PHD Finger Protein 20 2 3 5
  • Hepatocellular Carcinoma-Associated Antigen 58 3 4
  • Tudor Domain Containing 20A 2 3
  • Glioma-Expressed Antigen 2 3 4
  • Novel Zinc Finger Protein 3 4
  • Transcription Factor TZP 3 4
  • C20orf104 3 4
  • GLEA2 3 4
  • HCA58 3 4
  • NZF 3 4
  • TZP 3 4
  • Chromosome 20 Open Reading Frame 104 2
  • TDRD20A 3

External Ids for PHF20 Gene

Previous HGNC Symbols for PHF20 Gene

  • C20orf104

Previous GeneCards Identifiers for PHF20 Gene

  • GC20P033824
  • GC20P034359
  • GC20P031137

Summaries for PHF20 Gene

GeneCards Summary for PHF20 Gene

PHF20 (PHD Finger Protein 20) is a Protein Coding gene. Diseases associated with PHF20 include Actinomycosis and Hepatocellular Carcinoma. Among its related pathways are Chromatin organization and Regulation of TP53 Activity. GO annotations related to this gene include histone acetyltransferase activity (H4-K5 specific) and histone acetyltransferase activity (H4-K16 specific). An important paralog of this gene is PHF20L1.

UniProtKB/Swiss-Prot for PHF20 Gene

  • Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 Lys-16 acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage.

Gene Wiki entry for PHF20 Gene

Additional gene information for PHF20 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF20 Gene

Genomics for PHF20 Gene

Regulatory Elements for PHF20 Gene

Enhancers for PHF20 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
GH20H035739 3.1 FANTOM5 Ensembl ENCODE dbSUPER 21.6 -30.3 -30251 7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D CPNE1 RBM12 RBM39 ERGIC3 AAR2 PHF20 EIF6 TRPC4AP RPL36P4 MYL9
GH20H035765 1.8 FANTOM5 ENCODE dbSUPER 24.7 -2.4 -2429 9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF548 SP3 NFYC SSRP1 CPNE1 RBM12 RBM39 NCOA6 ERGIC3 PHF20 AAR2 DLGAP4-AS1 TRPC4AP PROCR
GH20H035791 1.5 FANTOM5 Ensembl ENCODE dbSUPER 28.7 +20.4 20439 1 SOX6 ATM GATA3 JUND ZNF366 POLR2A RCOR2 ADNP IKZF1 NBN CPNE1 PHF20 RBM39 RPF2P1 NFS1 ROMO1 SPAG4 GC20M035824
GH20H035795 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +24.8 24827 3 TAL1 HLF ZNF507 CPNE1 PHF20 RBM12 NCOA6 SPAG4 RBM39 SCAND1 GC20M035824
GH20H035874 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +103.5 103544 2 PKNOX1 ATF1 ARNT SIN3A FEZF1 BRCA1 ZNF2 GTF3C2 KLF7 ATF7 CPNE1 RBM39 RBM12 ERGIC3 RPL36P4 TRPC4AP NFS1 EIF6 DSN1 AAR2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHF20 on UCSC Golden Path with GeneCards custom track

Promoters for PHF20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136598 426 1201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for PHF20 Gene

Chromosome:
20
Start:
35,771,974 bp from pter
End:
35,950,381 bp from pter
Size:
178,408 bases
Orientation:
Plus strand

Genomic View for PHF20 Gene

Genes around PHF20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHF20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHF20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHF20 Gene

Proteins for PHF20 Gene

  • Protein details for PHF20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVI0-PHF20_HUMAN
    Recommended name:
    PHD finger protein 20
    Protein Accession:
    Q9BVI0
    Secondary Accessions:
    • A7E235
    • B2RB56
    • E1P5S3
    • Q566Q2
    • Q5JWY9
    • Q66K49
    • Q9BWV4
    • Q9BXA3
    • Q9BZW3
    • Q9H421
    • Q9H4J6
    • Q9NZ22

    Protein attributes for PHF20 Gene

    Size:
    1012 amino acids
    Molecular mass:
    115386 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1.
    Miscellaneous:
    • Antibodies against PHF20 are present in sera from patients with hepatocellular carcinoma, glioblastoma and childhood medulloblastula.
    SequenceCaution:
    • Sequence=AAF34184.1; Type=Frameshift; Positions=260; Evidence={ECO:0000305}; Sequence=AAK19748.1; Type=Frameshift; Positions=635, 653, 655; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PHF20 Gene

    Alternative splice isoforms for PHF20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHF20 Gene

Post-translational modifications for PHF20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHF20 Gene

Domains & Families for PHF20 Gene

Gene Families for PHF20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PHF20 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BVI0

UniProtKB/Swiss-Prot:

PHF20_HUMAN :
  • The Tudor domain 2 mediates reading of dimethyl-lysine residues.
Domain:
  • The Tudor domain 2 mediates reading of dimethyl-lysine residues.
  • The Tudor domain 1 doesnt bind dimethyl-lysine residues, due to an atypical and occluded aromatic cage.
genes like me logo Genes that share domains with PHF20: view

Function for PHF20 Gene

Molecular function for PHF20 Gene

UniProtKB/Swiss-Prot Function:
Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 Lys-16 acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage.

Phenotypes From GWAS Catalog for PHF20 Gene

Gene Ontology (GO) - Molecular Function for PHF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16415788
genes like me logo Genes that share ontologies with PHF20: view
genes like me logo Genes that share phenotypes with PHF20: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHF20
  • Applied Biological Materials Clones for PHF20
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHF20 Gene

Localization for PHF20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHF20 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHF20 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Nuclear membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol TAS --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with PHF20: view

Pathways & Interactions for PHF20 Gene

genes like me logo Genes that share pathways with PHF20: view

Pathways by source for PHF20 Gene

SIGNOR curated interactions for PHF20 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PHF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0043981 histone H4-K5 acetylation IDA 20018852
genes like me logo Genes that share ontologies with PHF20: view

Drugs & Compounds for PHF20 Gene

No Compound Related Data Available

Transcripts for PHF20 Gene

Unigene Clusters for PHF20 Gene

PHD finger protein 20:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHF20
  • Applied Biological Materials Clones for PHF20
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PHF20 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a ·
SP1: -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - - -
SP6: -
SP7:
SP8: - -
SP9:
SP10:
SP11: - -
SP12:

ExUns: 20b ^ 21a · 21b ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PHF20 Gene

GeneLoc Exon Structure for
PHF20
ECgene alternative splicing isoforms for
PHF20

Expression for PHF20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHF20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHF20 Gene

This gene is overexpressed in Blymphocyte (40.7) and CD8 Tcells (22.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PHF20 Gene



Protein tissue co-expression partners for PHF20 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHF20 Gene:

PHF20

SOURCE GeneReport for Unigene cluster for PHF20 Gene:

Hs.517044

mRNA Expression by UniProt/SwissProt for PHF20 Gene:

Q9BVI0-PHF20_HUMAN
Tissue specificity: Expressed in heart, kidney, liver, lung, pancreas, placenta, spleen and testis. Not expressed in brain, skeletal muscle, colon, ovary, prostate, small intestine and thymus. Expressed in colon and ovary cancer cell lines while it is not expressed in the respective normal tissues.

Evidence on tissue expression from TISSUES for PHF20 Gene

  • Nervous system(4.7)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with PHF20: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHF20 Gene

Orthologs for PHF20 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHF20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF20 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia PHF20 33 34
  • 92.57 (n)
cow
(Bos Taurus)
Mammalia PHF20 33 34
  • 92.25 (n)
rat
(Rattus norvegicus)
Mammalia Phf20 33
  • 88.05 (n)
mouse
(Mus musculus)
Mammalia Phf20 33 16 34
  • 87.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PHF20 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHF20 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHF20 33 34
  • 72.09 (n)
lizard
(Anolis carolinensis)
Reptilia PHF20 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phf20 33
  • 65.15 (n)
Str.20328 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.17757 33
zebrafish
(Danio rerio)
Actinopterygii phf20a 34
  • 39 (a)
OneToMany
phf20b 34
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta MBD-R2 34
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
ManyToMany
-- 34
  • 22 (a)
ManyToMany
Species where no ortholog for PHF20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHF20 Gene

ENSEMBL:
Gene Tree for PHF20 (if available)
TreeFam:
Gene Tree for PHF20 (if available)

Paralogs for PHF20 Gene

Paralogs for PHF20 Gene

(1) SIMAP similar genes for PHF20 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PHF20: view

Variants for PHF20 Gene

Sequence variations from dbSNP and Humsavar for PHF20 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000047511 -- 35,936,654(+) TTAAT(G/T)ACCTA intron-variant
rs1000053582 -- 35,939,365(+) GCAGA(G/T)GGAGG intron-variant
rs1000063960 -- 35,881,596(+) AAGGA(-/CATT)CATTC intron-variant
rs1000079151 -- 35,874,742(+) TTAAA(A/C)AATTT intron-variant
rs1000088540 -- 35,783,426(+) TTTTT(-/TTTC)TTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHF20 Gene

Variant ID Type Subtype PubMed ID
dgv4303n100 CNV gain 25217958
esv2096453 CNV deletion 18987734
esv2353057 CNV deletion 18987734
esv2722367 CNV deletion 23290073
esv2722368 CNV deletion 23290073
esv3337522 CNV insertion 20981092
esv3557030 CNV deletion 23714750
esv3645721 CNV loss 21293372
esv3645722 CNV loss 21293372
esv3645725 CNV loss 21293372
esv3645728 CNV loss 21293372
nsv1056503 CNV gain 25217958
nsv1066673 CNV loss 25217958
nsv1067230 CNV gain 25217958
nsv1116862 CNV deletion 24896259
nsv1116863 CNV deletion 24896259
nsv1125869 CNV deletion 24896259
nsv1127835 CNV deletion 24896259
nsv1131590 CNV deletion 24896259
nsv1136539 CNV deletion 24896259
nsv1138954 CNV deletion 24896259
nsv1138955 CNV deletion 24896259
nsv3366 CNV insertion 18451855
nsv3367 CNV insertion 18451855
nsv522947 CNV gain 19592680
nsv526188 CNV gain 19592680
nsv833964 CNV loss 17160897
nsv965874 CNV duplication 23825009
nsv979431 CNV duplication 23825009

Variation tolerance for PHF20 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.94; 74.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHF20 Gene

Human Gene Mutation Database (HGMD)
PHF20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHF20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF20 Gene

Disorders for PHF20 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PHF20 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
actinomycosis
  • actinomycetoma
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
- elite association - COSMIC cancer census association via MalaCards
Search PHF20 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHF20

Genetic Association Database (GAD)
PHF20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHF20
genes like me logo Genes that share disorders with PHF20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHF20 Gene

Publications for PHF20 Gene

  1. Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PMID: 12800201) Behrends U … Mautner J (International journal of cancer 2003) 3 4 22 60
  2. Glioma-expressed antigen 2 (GLEA2): a novel protein that can elicit immune responses in glioblastoma patients and some controls. (PMID: 11703362) Fischer U … Meese E (Clinical and experimental immunology 2001) 3 4 22 60
  3. PHF20 is an effector protein of p53 double lysine methylation that stabilizes and activates p53. (PMID: 22864287) Cui G … Mer G (Nature structural & molecular biology 2012) 3 4 60
  4. Crystal structures of the Tudor domains of human PHF20 reveal novel structural variations on the Royal Family of proteins. (PMID: 22449972) Adams-Cioaba MA … Min J (FEBS letters 2012) 3 4 60
  5. Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex. (PMID: 20018852) Cai Y … Conaway RC (The Journal of biological chemistry 2010) 3 4 60

Products for PHF20 Gene

  • Addgene plasmids for PHF20

Sources for PHF20 Gene

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