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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 childhood medulloblastoma. Among its related pathways are Gene Expression and Chromatin organization. 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

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

Genomics for PHF20 Gene

Regulatory Elements for PHF20 Gene

Promoters for PHF20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHF20 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PHF20 Gene at MOPED

Post-translational modifications for PHF20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHF20 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PHF20 (PHF20)

No data available for DME Specific Peptides for PHF20 Gene

Domains & Families for PHF20 Gene

Gene Families for PHF20 Gene

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.
  • Contains 1 C2H2-type zinc finger.
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.
  • Contains 1 A.T hook DNA-binding domain.
  • Contains 2 Tudor domains.
Similarity:
  • Contains 1 C2H2-type zinc finger.
  • Contains 1 PHD-type zinc finger.
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.

Gene Ontology (GO) - Molecular Function for PHF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0046972 contributes_to histone acetyltransferase activity (H4-K16 specific) IDA 20018852
genes like me logo Genes that share ontologies with PHF20: view
genes like me logo Genes that share phenotypes with PHF20: view

Animal Models for PHF20 Gene

MGI Knock Outs for PHF20:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for PHF20 Gene COMPARTMENTS Subcellular localization image for PHF20 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PHF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0005737 cytoplasm IDA --
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

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:1901796 regulation of signal transduction by p53 class mediator TAS --
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:

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 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, MOPED, and MaxQB for PHF20 Gene



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.
genes like me logo Genes that share expression patterns with PHF20: view

Protein tissue co-expression partners for PHF20 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 36
  • 100 (a)
OneToOne
PHF20 35
  • 99.77 (n)
  • 99.6 (a)
cow
(Bos Taurus)
Mammalia PHF20 36
  • 92 (a)
OneToOne
PHF20 35
  • 92.25 (n)
  • 92.25 (a)
dog
(Canis familiaris)
Mammalia PHF20 35
  • 92.57 (n)
  • 94.46 (a)
PHF20 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phf20 16
Phf20 35
  • 87.82 (n)
  • 89.28 (a)
Phf20 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHF20 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHF20 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phf20 35
  • 88.05 (n)
  • 88.78 (a)
chicken
(Gallus gallus)
Aves PHF20 35
  • 72.09 (n)
  • 69.88 (a)
PHF20 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHF20 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.17757 35
tropical clawed frog
(Silurana tropicalis)
Amphibia phf20 35
  • 65.15 (n)
  • 61.29 (a)
Str.20328 35
zebrafish
(Danio rerio)
Actinopterygii phf20a 36
  • 39 (a)
OneToMany
phf20b 36
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta MBD-R2 36
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
Species with no ortholog for PHF20:
  • 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
rs17431878 - 35,914,185(+) GGAAA(A/G)TGAAA reference, missense
rs2378407 -- 35,779,605(+) acctc(C/T)gtctc intron-variant
rs2378408 -- 35,779,810(+) gccac(C/T)gtgcc intron-variant
rs2378409 -- 35,804,542(+) AATTT(A/G)TGTAC intron-variant
rs2378410 -- 35,807,435(+) gcaac(C/T)tccgc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526188 CNV Gain 19592680
nsv3366 CNV Insertion 18451855
nsv522947 CNV Gain 19592680
esv2096453 CNV Deletion 18987734
esv2722367 CNV Deletion 23290073
nsv3367 CNV Insertion 18451855
esv267652 CNV Insertion 20981092
nsv912863 CNV Loss 21882294
nsv912864 CNV Loss 21882294
esv2722368 CNV Deletion 23290073
esv2353057 CNV Deletion 18987734
nsv833964 CNV Loss 17160897

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

HapMap Linkage Disequilibrium report
PHF20
Human Gene Mutation Database (HGMD)
PHF20

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

Disorders for PHF20 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PHF20 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
actinomycosis
  • actinomycetoma
childhood medulloblastoma
  • pediatric medulloblastoma
large cell medulloblastoma
functional gastric disease
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. 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. (Clin. Exp. Immunol. 2001) 3 4 23 67
  2. Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PMID: 12800201) Behrends U. … Mautner J. (Int. J. Cancer 2003) 3 23
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Altered expression of tumor suppressor PHF20 in myeloproliferative neoplasms. (PMID: 24675105) Lasho T.L. … Smith D.I. (Leukemia 2014) 3
  5. PHF20 regulates NF-I_B signalling by disrupting recruitment of PP2A to p65. (PMID: 23797602) Zhang T. … Hur G.M. (Nat Commun 2013) 3

Products for PHF20 Gene

Sources for PHF20 Gene

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