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PHF21A Gene

protein-coding   GIFtS: 57
GCID: GC11M045950

PHD Finger Protein 21A

  See PHF21A-related disease
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 21A1 2
BHC802 3 5
BHC80a2 3
BRAF35-HDAC Complex Protein BHC802 3
KIAA16963 5
BRAF35/HDAC2 Complex (80 KDa)2

External Ids:    HGNC: 241561   Entrez Gene: 513172   Ensembl: ENSG000001353657   OMIM: 6083255   UniProtKB: Q96BD53   

Export aliases for PHF21A gene to outside databases

Previous GC identifers: GC11M045911 GC11M045657


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHF21A Gene:
The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241)
complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as
repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 (PubMed 12032298)).(supplied
by OMIM, Nov 2010)

GeneCards Summary for PHF21A Gene:
PHF21A (PHD finger protein 21A) is a protein-coding gene. Diseases associated with PHF21A include potocki-shaffer syndrome. GO annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.

UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5
Function: Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific
genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and
demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act
as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in
demethylation regulation

Gene Wiki entry for PHF21A 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 at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHF21A gene promoter:
         HOXA9B   HOXA9   LCR-F1   C/EBPalpha   CHOP-10   MZF-1   FOXO1a   Meis-1a   FOXO1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHF21A promoter sequence
   Search Chromatin IP Primers for PHF21A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHF21A


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

PHF21A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHF21A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M045950:  view genomic region     (about GC identifiers)

Start:
45,950,870 bp from pter      End:
46,142,985 bp from pter
Size:
192,116 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5 (See protein sequence)
Recommended Name: PHD finger protein 21A  
Size: 680 amino acids; 74854 Da
Subunit: Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A,
RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. In the
complex, it interacts directly with HDAC1, HDAC2, HMG20B/BRAF35, KDM1A and RCOR1/CoREST
Sequence caution: Sequence=AAF64262.1; Type=Frameshift; Positions=Several; Sequence=BAB21787.1; Type=Erroneous
initiation;
2 PDB 3D structures from and Proteopedia for PHF21A:
2PUY (3D)        2YQL (3D)    
Secondary accessions: D3DQP5 Q6AWA2 Q9C0G7 Q9H8V9 Q9HAK6 Q9NZE9
Alternative splicing: 3 isoforms:  Q96BD5-1   Q96BD5-2   Q96BD5-3   

Explore the universe of human proteins at neXtProt for PHF21A: NX_Q96BD5

Explore proteomics data for PHF21A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHF21A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001095272.1  NP_057705.3  

    ENSEMBL proteins: 
     ENSP00000323152   ENSP00000435984   ENSP00000398824   ENSP00000431964   ENSP00000431621  
     ENSP00000432094   ENSP00000431273   ENSP00000432916   ENSP00000436157   ENSP00000435121  
     ENSP00000432406   ENSP00000437110   ENSP00000434687   ENSP00000435645   ENSP00000257821  
    Reactome Protein details: Q96BD5

    PHF21A Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PHF21A
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    Novus Biologicals PHF21A Protein
    Novus Biologicals PHF21A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHF21A

     
    Search eBioscience for Proteins for PHF21A 

    PHF21A Antibody Products:

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    Search for Antibodies for PHF21A at Abcam
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    Search ThermoFisher Antibodies for PHF21A
    LSBio Antibodies in human, mouse, rat for PHF21A

    PHF21A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PHF21A
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    Search eBioscience for ELISAs for PHF21A 


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

    Selected InterPro protein domains (see all 7):
     IPR017956 AT_hook_DNA-bd_motif
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR019786 Zinc_finger_PHD-type_CS

    Graphical View of Domain Structure for InterPro Entry Q96BD5

    ProtoNet protein and cluster: Q96BD5

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5
    Similarity: Contains 1 A.T hook DNA-binding domain
    Similarity: Contains 1 PHD-type zinc finger


    Find genes that share domains with PHF21A           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PF21A_HUMAN, Q96BD5
    Function: Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific
    genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and
    demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act
    as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in
    demethylation regulation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with PHF21A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PHF21A:
     Increased cell death HMECs cel 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Phf21a):
     behavior/neurological  mortality/aging 

    Find genes that share phenotypes with PHF21A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Phf21atm1Tba for PHF21A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHF21A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PHF21A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHF21A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHF21A

    miRNA
    Products:
        
    miRTarBase miRNAs that target PHF21A:
    hsa-mir-221-3p (MIRT046927), hsa-mir-335-5p (MIRT016996)

    Block miRNA regulation of human, mouse, rat PHF21A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHF21A (see all 169):
    hsa-miR-411* hsa-miR-26a-2* hsa-miR-640 hsa-miR-938 hsa-miR-1260b hsa-miR-3653 hsa-miR-138-2* hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidPHF21A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PHF21A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PHF21A (NM_016621)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHF21A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF21A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF21A


    (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
    PF21A_HUMAN, Q96BD5: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex IDA15325272
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--

    Find genes that share ontologies with PHF21A           About GenesLikeMe


    (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 PHF21A About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production


    Find genes that share SuperPaths with PHF21A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PHF21A
        Factors involved in megakaryocyte development and platelet production


        Pathway & Disease-focused RT2 Profiler PCR Array including PHF21A: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PHF21A

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

    Selected Interacting proteins for PHF21A (Q96BD52, 3 ENSP000003988244) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H3F3BP842432, 3MINT-8089088 I2D: score=1 
    LPXNO607112, 3MINT-66621 I2D: score=4 
    HIST2H3CQ71DI33, ENSP000003581544I2D: score=1 STRING: ENSP00000358154
    H3F3AP842432, 3, ENSP000003557784MINT-8089088 I2D: score=1 STRING: ENSP00000355778
    HIST2H3AQ71DI33I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15325272
    GO:0001967suckling behavior IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with PHF21A           About GenesLikeMe



    (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 PHF21A (PF21A)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PHF21A gene (2 alternative transcripts): 
    NM_001101802.1  NM_016621.3  

    Unigene Cluster for PHF21A:

    PHD finger protein 21A
    Hs.502458  [show with all ESTs]
    Unigene Representative Sequence: NM_001101802
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000527401(uc001nca.1) ENST00000323180 ENST00000530587 ENST00000418153
    ENST00000525676 ENST00000532028 ENST00000534724 ENST00000527753 ENST00000534766
    ENST00000532883 ENST00000525679 ENST00000524497 ENST00000531959 ENST00000529734
    ENST00000529782 ENST00000533757 ENST00000525438 ENST00000527782
    miRNA
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    Block miRNA regulation of human, mouse, rat PHF21A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHF21A (see all 169):
    hsa-miR-411* hsa-miR-26a-2* hsa-miR-640 hsa-miR-938 hsa-miR-1260b hsa-miR-3653 hsa-miR-138-2* hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidPHF21A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PHF21A
    Clone
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    OriGene clones in human, mouse for PHF21A (see all 13)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PHF21A (NM_016621)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF21A
    Primer
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    OriGene qPCR primer pairs and template standards for PHF21A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PHF21A
      QuantiTect SYBR Green Assays in human, mouse, rat PHF21A
      QuantiFast Probe-based Assays in human, mouse, rat PHF21A

    Additional mRNA sequence: 

    AB051483.1 AF208848.1 AK021530.1 AK023258.1 AL359593.1 AL359608.1 AL832258.1 AY090777.1 
    BC015714.2 

    20 DOTS entries:

    DT.212580  DT.453970  DT.100780643  DT.95168886  DT.100780646  DT.92021628  DT.91886002  DT.100780647 
    DT.120759297  DT.120759302  DT.91749098  DT.95135258  DT.100650284  DT.106867  DT.120759191  DT.120759237 
    DT.120759315  DT.70103250  DT.100658944  DT.312600 

    Selected AceView cDNA sequences (see all 274):

    AW136350 AW339601 AK023258 AA429411 AA464614 AI916080 CB044383 AI348295 
    BU785383 AA485181 BC015714 BE218518 AA721452 AA243540 BE042993 AB051483 
    BU737790 AA905840 CR624589 CK903619 AI096492 AI825211 BU076399 CA390555 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PHF21A (see all 10)    About this scheme

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

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c
    SP1:  -     -                                       
    SP2:  -     -                                       
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for PHF21A

    (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)
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    PHF21A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PHF21A Expression
    About this image


    PHF21A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    PHF21A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHF21A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502458

    UniProtKB/Swiss-Prot: PF21A_HUMAN, Q96BD5
    Tissue specificity: Highly expressed in brain. Expressed at much lower level in other tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including PHF21A: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PHF21A
    OriGene qSTAR qPCR primer pairs in human, mouse for PHF21A
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PHF21A
    QuantiTect SYBR Green Assays in human, mouse, rat PHF21A
    QuantiFast Probe-based Assays in human, mouse, rat PHF21A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF21A

    (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)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PHF21A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phf21a1 , 5 PHD finger protein 21A1, 5 92.83(n)1
    95.43(a)1
      2 (50.80 cM)5
    1922851  NM_001109690.11  NP_001103160.11 
     921841065 
    chicken
    (Gallus gallus)
    Aves PHF21A1 PHD finger protein 21A 85.48(n)
    91.26(a)
      423199  NM_001199647.1  NP_001186576.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHF21A6
    PHD finger protein 21A
    87(a)
    1 ↔ 1
    1(47994223-48021222)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia phf21a1 PHD finger protein 21A 76.85(n)
    80.69(a)
      100496525  XM_002934094.2  XP_002934140.2 
    zebrafish
    (Danio rerio)
    Actinopterygii phf21ab1 PHD finger protein 21Ab 66.77(n)
    66.61(a)
      565544  XM_005174285.1  XP_005174342.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RCO16
    Essential subunit of the histone deacetylase Rpd3S...
    10(a)
    1 → many
    XIII(413982-416036) YMR075W


    ENSEMBL Gene Tree for PHF21A (if available)
    TreeFam Gene Tree for PHF21A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PHF21A gene
    PHF21B2  
    4 SIMAP similar genes for PHF21A using alignment to 11 protein entries:     PF21A_HUMAN (see all proteins):
    PHRF1    CHD4    KDM5A    PHF12

    Find genes that share paralogs with PHF21A           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for PHF21A (see all 3040)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs677372471,2
    C--45689849(+) CGACA-/GT    
       T
    /TGT
    TACAT
    4 -- int1 cds10--------
    rs1133925561,2
    C,F--45951160(+) ACCCAC/TGGACA 2 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1403587211,2
    C--45951168(+) ACACCA/GGAGAG 2 -- ut310--------
    rs1503409261,2
    --45951210(+) GTAGGA/GGGGTG 2 -- ut310--------
    rs780172381,2
    C,F--45951282(+) TTCCGT/CTTAGA 2 -- ut313Minor allele frequency- C:0.06CSA WA 122
    rs108385331,2
    C,F,A,H--45951306(+) AGAGTT/CCCTAC 2 -- ut319Minor allele frequency- C:0.42NS NA CSA WA EA 488
    rs789157451,2
    C,F--45951480(+) CAGAGG/TGACAG 2 -- ut311Minor allele frequency- T:0.09EA 120
    rs1902724701,2
    --45951490(+) GGGGCA/GAGGTT 2 -- ut310--------
    rs618824831,2
    C--45951743(+) TGATGG/ACCCCA 2 -- ut312Minor allele frequency- A:0.04NA 122
    rs1380987791,2
    --45951817(+) GACACA/GGTCAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for PHF21A (45950870 - 46142985 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PHF21A (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672569CNV Deletion23128226
    esv2744431CNV Deletion23290073
    esv4928CNV Deletion18987735
    esv2511558CNV Deletion19546169
    nsv897314CNV Loss21882294
    nsv38731CNV Loss16902084
    nsv516442CNV Loss19592680
    esv8587CNV Loss19470904
    esv987535CNV Loss20482838
    nsv522527CNV Loss19592680

    Human Gene Mutation Database (HGMD): PHF21A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHF21A
    DNA2.0 Custom Variant and Variant Library Synthesis for PHF21A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608325    OMIM disorders: --

    1 disease for PHF21A:    
    About MalaCards
    potocki-shaffer syndrome


    Find genes that share disorders with PHF21A           About GenesLikeMe

    Genetic Association Database (GAD): PHF21A
    Human Genome Epidemiology (HuGE) Navigator: PHF21A (1 document)

    Export disorders for PHF21A 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)
    About This Section

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    PubMed articles for PHF21A gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with PHF21A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes. (PubMed id 12032298)1, 2, 3 Hakimi M.-A....Shiekhattar R. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    5. Regulation of LSD1 histone demethylase activity by its associated factors. (PubMed id 16140033)1, 2 Shi Y.-J.... Shi Y. (Mol. Cell 2005)
    6. Characterization of BHC80 in BRAF-HDAC complex, involved in neuron- specific gene repression. (PubMed id 15325272)1, 2 Iwase S....Baba T. (Biochem. Biophys. Res. Commun. 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. (PubMed id 12493763)1, 2 Hakimi M.-A.... Shiekhattar R. (J. Biol. Chem. 2003)
    10. The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex. (PubMed id 19439607)1, 9 Klajn A....D'Alessandro R. (J. Neurosci. 2009)

    (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)
    About This Section

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    Entrez Gene: 51317 HGNC: 24156 AceView: BHC80 Ensembl:ENSG00000135365 euGenes: HUgn51317
    ECgene: PHF21A H-InvDB: PHF21A

    (According to HUGE)
    About This Section

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    HUGE: KIAA1696

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PHF21A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PHF21A gene:
    Search GeneIP for patents involving PHF21A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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