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PHF20 Gene

protein-coding   GIFtS: 58
GCID: GC20P034359

PHD Finger Protein 20

(Previous name: chromosome 20 open reading frame 104)
(Previous symbol: C20orf104)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PHD Finger Protein 201 2     Novel Zinc Finger Protein2 3
C20orf1041 2 3     Transcription Factor TZP2 3
GLEA22 3 5     NZF2 3
HCA582 3 5     TZP2 3
Tudor Domain Containing 20A1 2     Chromosome 20 Open Reading Frame 1041
Glioma-Expressed Antigen 22 3     TDRD20A2
Hepatocellular Carcinoma-Associated Antigen 582 3     

External Ids:    HGNC: 160981   Entrez Gene: 512302   Ensembl: ENSG000000252937   OMIM: 6103355   UniProtKB: Q9BVI03   

Export aliases for PHF20 gene to outside databases

Previous GC identifers: GC20P033824 GC20P031137


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PHF20 Gene:
PHF20 (PHD finger protein 20) is a protein-coding gene. Diseases associated with PHF20 include large cell medulloblastoma, and prostatic hypertrophy. GO annotations related to this gene include histone acetyltransferase activity (H4-K16 specific) and histone acetyltransferase activity (H4-K5 specific). An important paralog of this gene is PHF20L1.

UniProtKB/Swiss-Prot: PHF20_HUMAN, Q9BVI0
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 Wiki entry for PHF20 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHF20 gene promoter:
         Egr-3   HOXA9   HOXA9B   Pbx1a   Egr-4   Meis-1b   Egr-2   Pax-4a   ATF6   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PHF20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHF20


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.22-q11.23   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22-q11.23

PHF20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHF20 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P034359:  view genomic region     (about GC identifiers)

Start:
34,359,896 bp from pter      End:
34,538,303 bp from pter
Size:
178,408 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PHF20_HUMAN, Q9BVI0 (See protein sequence)
Recommended Name: PHD finger protein 20  
Size: 1012 amino acids; 115386 Da
Subunit: 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
Sequence caution: Sequence=AAF34184.1; Type=Frameshift; Positions=260; Sequence=AAK19748.1; Type=Frameshift;
Positions=635, 653, 655;
5 PDB 3D structures from and Proteopedia for PHF20:
2LDM (3D)        3P8D (3D)        3Q1J (3D)        3QII (3D)        3SD4 (3D)    
Secondary accessions: A7E235 B2RB56 E1P5S3 Q566Q2 Q5JWY9 Q66K49 Q9BWV4 Q9BXA3 Q9BZW3 Q9H421
Q9H4J6 Q9NZ22
Alternative splicing: 2 isoforms:  Q9BVI0-1   Q9BVI0-2   (Ref.1 (AAF34184) sequence is in conflict in positions: 237:KTR->KKTS)

Explore the universe of human proteins at neXtProt for PHF20: NX_Q9BVI0

Explore proteomics data for PHF20 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHF20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057520.2  
    ENSEMBL proteins: 
     ENSP00000363124   ENSP00000404455   ENSP00000341900   ENSP00000363112   ENSP00000391915  
     ENSP00000413712   ENSP00000410373  
    Reactome Protein details: Q9BVI0

    PHF20 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for PHF20

    PHF20 Assay Products:

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    Cloud-Clone Corp. CLIAs for PHF20


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TDRD: Tudor domain containing
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 10):
     IPR017956 AT_hook_DNA-bd_motif
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR015880 Znf_C2H2-like
     IPR019786 Zinc_finger_PHD-type_CS

    Graphical View of Domain Structure for InterPro Entry Q9BVI0

    ProtoNet protein and cluster: Q9BVI0

    2 Blocks protein domains:
    IPB001965 Zn-finger-like
    IPB002999 Tudor domain


    UniProtKB/Swiss-Prot: PHF20_HUMAN, Q9BVI0
    Domain: The Tudor domain 2 mediates reading of dimethyl-lysine residues
    Domain: The Tudor domain 1 doesn't bind dimethyl-lysine residues, due to an atypical and occluded aromatic cage
    Similarity: Contains 1 A.T hook DNA-binding domain
    Similarity: Contains 1 C2H2-type zinc finger
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 2 Tudor domains


    PHF20 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHF20_HUMAN, Q9BVI0
    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): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI16415788
    GO:0008270zinc ion binding IEA--
    GO:0043995contributes to histone acetyltransferase activity (H4-K5 specific) IDA--
    GO:0043996contributes to histone acetyltransferase activity (H4-K8 specific) IDA--
         
    PHF20 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for PHF20:
     G0/1 arrest  Increased G1 DNA content  Increased cell death HMECs cel  Increased cell size 
     Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Phf20):
     craniofacial  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  no phenotypic analysis 
     skeleton  vision/eye 

    PHF20 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHF20
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHF20
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    miRNA
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    hsa-mir-21-5p (MIRT030969), hsa-mir-197-3p (MIRT004205)

    Block miRNA regulation of human, mouse, rat PHF20 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHF20 (see all 90):
    hsa-miR-194* hsa-miR-323-3p hsa-miR-3938 hsa-miR-3146 hsa-miR-15a hsa-miR-128 hsa-miR-30d hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidPHF20 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PHF20

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PHF20
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    GenScript: all cDNA clones in your preferred vector (see all 3): PHF20 (NM_016018)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF20

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF20


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PHF20_HUMAN, Q9BVI0: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000123histone acetyltransferase complex IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    PHF20 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PHF20 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PHF20
        Chromatin Regulation / Acetylation

    1 Reactome Pathway for PHF20
        HATs acetylate histones



    PHF20 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PHF20
    Interactions:

        Search GeneGlobe Interaction Network for PHF20

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PHF20 (Q9BVI01, 2, 3 ENSP000003631244) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4BP628051, 2, 3EBI-2560802,EBI-302023 MINT-2829358 MINT-2830381 MINT-2829913 I2D: score=1 
    HIST1H4CP628051, 2, 3EBI-2560802,EBI-302023 MINT-2829358 MINT-2830381 MINT-2829913 I2D: score=1 
    HIST1H4DP628051, 2, 3EBI-2560802,EBI-302023 MINT-2829358 MINT-2830381 MINT-2829913 I2D: score=1 
    HIST1H4EP628051, 2, 3EBI-2560802,EBI-302023 MINT-2829358 MINT-2830381 MINT-2829913 I2D: score=1 
    HIST1H4FP628051, 2, 3EBI-2560802,EBI-302023 MINT-2829358 MINT-2830381 MINT-2829913 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0043981histone H4-K5 acetylation IDA--
    GO:0043982histone H4-K8 acetylation IDA--

    PHF20 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHF20



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PHF20 gene: 
    NM_016436.4  

    Unigene Cluster for PHF20:

    PHD finger protein 20
    Hs.517044  [show with all ESTs]
    Unigene Representative Sequence: BC150178
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461122 ENST00000374012(uc002xej.1 uc002xek.1) ENST00000461405
    ENST00000452270 ENST00000339089(uc002xei.1) ENST00000481202 ENST00000374000(uc002xel.1 uc010gfo.1)
    ENST00000449988 ENST00000486408 ENST00000495338 ENST00000496305 ENST00000480940
    ENST00000485604 ENST00000420233 ENST00000473943 ENST00000439301(uc002xeh.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PHF20 (see all 90):
    hsa-miR-194* hsa-miR-323-3p hsa-miR-3938 hsa-miR-3146 hsa-miR-15a hsa-miR-128 hsa-miR-30d hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidPHF20 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): PHF20 (NM_016018)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF20
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHF20
      QuantiTect SYBR Green Assays in human, mouse, rat PHF20
      QuantiFast Probe-based Assays in human, mouse, rat PHF20

    Additional mRNA sequence: 

    AF220416.1 AF258787.1 AF348207.1 AK054597.1 AK090798.1 AK097498.1 AK314503.1 AL137330.1 
    AY027523.1 AY134747.1 BC006415.1 BC015538.2 BC016948.1 BC022933.1 BC048210.1 BC062681.1 
    BC080598.1 BC093405.1 BC150178.1 

    22 DOTS entries:

    DT.100044409  DT.305771  DT.95154061  DT.100780272  DT.92472013  DT.101985494  DT.443943  DT.443988 
    DT.92472026  DT.100042229  DT.100725372  DT.92472059  DT.100774767  DT.91796016  DT.92472043  DT.120825619 
    DT.75147899  DT.75148089  DT.95329770  DT.102831124  DT.120825578  DT.120825622 

    Selected AceView cDNA sequences (see all 204):

    BE856639 BM971287 AI816058 BC016948 AK097498 AI992137 BC048210 AL040923 
    AA737645 BQ056510 AA599532 BG390561 BX952051 BQ028521 CB118725 CB139717 
    AI468028 AI926894 AY134747 AL558423 AA304777 AA243681 BC015538 CR626103 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PHF20 (see all 12)    About this scheme

    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:                    -                 -     -                                                                                                               

    ExUns: 20b ^ 21a · 21b ^ 22
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for PHF20

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PHF20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAGGGGCT
    PHF20 Expression
    About this image


    PHF20 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    PHF20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHF20 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517044

    UniProtKB/Swiss-Prot: PHF20_HUMAN, Q9BVI0
    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

        Custom PCR Arrays for PHF20
    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PHF20 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phf201 , 5 PHD finger protein 201, 5 87.82(n)1
    89.28(a)1
      2 (77.38 cM)5
    2288291  NM_172674.21  NP_766262.21 
     1561964665 
    chicken
    (Gallus gallus)
    Aves PHF201 PHD finger protein 20 72.09(n)
    69.88(a)
      419131  XM_004946882.1  XP_004946939.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHF206
    PHD finger protein 20
    65(a)
    1 ↔ 1
    4(134622560-134673562)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.177572 Xenopus laevis transcribed sequence with moderate similarity more 78.9(n)    BG814107.1 
    zebrafish
    (Danio rerio)
    Actinopterygii phf20a6
    phf20b6
    PHD finger protein 20, b
    39(a)
    38(a)
    1 ↔ many
    1 ↔ many
    11(25977642-25995750) ENSDARG00000002750
    23(15103844-15147833) ENSDARG00000038737
    fruit fly
    (Drosophila melanogaster)
    Insecta MBD-R26
    MBD-R2
    9(a)
    1 → many
    3R(8177865-8182024)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHF20 gene
    PHF20L12  
    1 SIMAP similar gene for PHF20 using alignment to 6 protein entries:     PHF20_HUMAN (see all proteins):
    PHF20L1

    PHF20 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHF20 (see all 3446)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1388382551,2
    --34357992(+) TTTCAC/TCATGT 1 -- us2k10--------
    rs761842291,2
    --34358269(+) GGATTC/TGCTGG 1 -- us2k10--------
    rs1463423751,2
    --34358282(+) GAGGCC/TTGTAA 1 -- us2k10--------
    rs60605931,2
    C--34358454(+) ggcgcA/Gcggat 1 -- us2k10--------
    rs286852741,2
    C,F--34358527(+) AAATAT/CAAAAA 1 -- us2k1 tfbs31Minor allele frequency- C:0.10NA 120
    rs1485270131,2
    C--34358652(+) ACTCCA/CGTCTG 1 -- us2k10--------
    rs1812302361,2
    --34358653(+) CTCCCA/GTCTGG 1 -- us2k10--------
    rs1421685801,2
    --34358669(+) AGAGCA/GAGACT 1 -- us2k10--------
    rs1863071671,2
    --34358777(+) AGACCA/CGCCTG 1 -- us2k10--------
    rs1917737081,2
    --34358794(+) ATCGTC/GAAACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PHF20 (34359896 - 34538303 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PHF20 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722368CNV Deletion23290073
    esv2722367CNV Deletion23290073
    esv2353057CNV Deletion18987734
    esv2096453CNV Deletion18987734
    nsv3367CNV Insertion18451855
    nsv3366CNV Insertion18451855
    esv267652CNV Insertion20981092
    nsv833964CNV Loss17160897
    nsv912864CNV Loss21882294
    nsv912863CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHF20
    DNA2.0 Custom Variant and Variant Library Synthesis for PHF20

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610335    OMIM disorders: --

    9 diseases for PHF20:    
    About MalaCards
    large cell medulloblastoma    prostatic hypertrophy    childhood medulloblastoma    ileus
    gastroparesis    medulloblastoma    hepatocellular carcinoma    lung cancer
    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for PHF20:
    Gastroparesis     Large cell medulloblastoma     Ileus

    PHF20 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PHF20

    Export disorders for PHF20 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PHF20 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PHF20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Glioma-expressed antigen 2 (GLEA2): a novel protein that can elicit immune responses in glioblastoma patients and some controls. (PubMed id 11703362)1, 2, 9 Fischer U....Meese E. (Clin. Exp. Immunol. 2001)
    2. Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PubMed id 12800201)1, 2, 9 Behrends U.... Mautner J. (Int. J. Cancer 2003)
    3. PHF20 is an effector protein of p53 double lysine methylation that stabilizes and activates p53. (PubMed id 22864287)1, 2 Cui G.... Mer G. (Nat. Struct. Mol. Biol. 2012)
    4. Crystal structures of the Tudor domains of human PHF20 reveal novel structural variations on the Royal Family of proteins. (PubMed id 22449972)1, 2 Adams-Cioaba M.A....Min J. (FEBS Lett. 2012)
    5. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (Cell 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PubMed id 12097419)1, 2 Wang Y....Chen W.-F. (J. Immunol. 2002)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    10. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PubMed id 23793025)1 Anttila V.... . (Nat. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51230 HGNC: 16098 AceView: C20orf104 Ensembl:ENSG00000025293 euGenes: HUgn51230
    ECgene: PHF20 H-InvDB: PHF20

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHF20 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PHF20 gene:
    Search GeneIP for patents involving PHF20

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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