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PHF6 Gene

protein-coding   GIFtS: 55
GCID: GC0XP133507

PHD Finger Protein 6

(Previous name: Borjeson-Forssman-Lehmann syndrome)
(Previous symbols: BFLS, BORJ)
  See PHF6-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 61 2     PHD-Like Zinc Finger Protein2 3
BFLS1 2 5     Borjeson-Forssman-Lehmann Syndrome1
BORJ1 2     CENP-312
Centromere Protein 311 2     KIAA18233

External Ids:    HGNC: 181451   Entrez Gene: 842952   Ensembl: ENSG000001565317   OMIM: 3004145   UniProtKB: Q8IWS03   

Export aliases for PHF6 gene to outside databases

Previous GC identifers: GC00U991174 GC0XP130353 GC0XP131452 GC0XP132212 GC0XP133232 GC0XP133334 GC0XP122905


(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 PHF6 Gene:
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two
PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the
nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been
associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation,
epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral
fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different
isoforms. (provided by RefSeq, Jun 2010)

GeneCards Summary for PHF6 Gene:
PHF6 (PHD finger protein 6) is a protein-coding gene. Diseases associated with PHF6 include borjeson-forssman-lehmann syndrome, and hypogonadism. An important paralog of this gene is PHF11.

UniProtKB/Swiss-Prot: PHF6_HUMAN, Q8IWS0
Function: Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA
(rRNA) transcription

Gene Wiki entry for PHF6 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_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHF6 gene promoter:
         AML1a   Sp1   FOXD3   HNF-4alpha2   POU3F2   NF-kappaB   HNF-4alpha1   Sox9   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHF6 promoter sequence
   Search Chromatin IP Primers for PHF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHF6


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

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26

PHF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHF6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP133507:  view genomic region     (about GC identifiers)

Start:
133,507,283 bp from pter      End:
133,562,822 bp from pter
Size:
55,540 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PHF6_HUMAN, Q8IWS0 (See protein sequence)
Recommended Name: PHD finger protein 6  
Size: 365 amino acids; 41290 Da
Subunit: Interacts with UBTF
Sequence caution: Sequence=BAB47452.1; Type=Erroneous initiation;
Secondary accessions: A8K230 D3DTG3 E9PC97 Q5JRC7 Q5JRC8 Q96JK3 Q9BRU0
Alternative splicing: 4 isoforms:  Q8IWS0-1   Q8IWS0-2   Q8IWS0-3   Q8IWS0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PHF6: NX_Q8IWS0

Explore proteomics data for PHF6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys118
  • Modification sites at PhosphoSitePlus

  • See PHF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001015877.1  NP_115711.2  NP_115834.1  

    ENSEMBL proteins: 
     ENSP00000359839   ENSP00000329097   ENSP00000359835   ENSP00000359836   ENSP00000377831  
     ENSP00000394480  

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    (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

    1 InterPro protein domain:
     IPR001965 Znf_PHD

    Graphical View of Domain Structure for InterPro Entry Q8IWS0

    ProtoNet protein and cluster: Q8IWS0

    UniProtKB/Swiss-Prot: PHF6_HUMAN, Q8IWS0
    Domain: The PHD-type zinc finger 1 mediates both nucleolar localization and interaction with UBTF
    Similarity: Contains 2 PHD-type zinc fingers


    Find genes that share domains with PHF6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: PHF6_HUMAN, Q8IWS0
    Function: Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA
    (rRNA) transcription

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with PHF6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PHF6:
     Increased HPV18 LCR reporter a 

         1 MGI phenotypic allele for Phf6 (no phenotypes)

    Find genes that share phenotypes with PHF6           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PHF6

    miRNA
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    miRTarBase miRNAs that target PHF6:
    hsa-mir-215-5p (MIRT024322), hsa-mir-124-3p (MIRT022787), hsa-mir-155-5p (MIRT020833), hsa-mir-192-5p (MIRT026628), hsa-let-7a-5p (MIRT052389)

    Block miRNA regulation of human, mouse, rat PHF6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHF6 (see all 65):
    hsa-miR-4291 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-4328 hsa-miR-106a hsa-miR-199a-3p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidPHF6 3' UTR sequence
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    (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
    PHF6_HUMAN, Q8IWS0: Nucleus. Nucleus, nucleolus. Note=Nuclear, it particularly localizes to the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--

    Find genes that share ontologies with PHF6           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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        Pathway & Disease-focused RT2 Profiler PCR Array including PHF6: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PHF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for PHF6 (Q8IWS03 ENSP000003290974) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    LYARQ9NX583, ENSP000003459174I2D: score=1 STRING: ENSP00000345917
    AXIN1ENSP000002623204STRING: ENSP00000262320
    HDGFENSP000003571894STRING: ENSP00000357189
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with PHF6           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 PHF6

    1 Novoseek inferred chemical compound relationship for PHF6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 30.6 2 15994862 (1), 12415272 (1)



    Find genes that share compounds with PHF6           About GenesLikeMe



    (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 PHF6 gene (3 alternative transcripts): 
    NM_001015877.1  NM_032335.3  NM_032458.2  

    Unigene Cluster for PHF6:

    PHD finger protein 6
    Hs.356501  [show with all ESTs]
    Unigene Representative Sequence: NM_032458
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370803(uc004exj.3 uc011mvk.2) ENST00000332070(uc004exk.3)
    ENST00000370799(uc004exi.3) ENST00000370800(uc004exh.3 uc010nrr.3)
    ENST00000394292 ENST00000416404
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PHF6 (see all 65):
    hsa-miR-4291 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-4328 hsa-miR-106a hsa-miR-199a-3p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidPHF6 3' UTR sequence
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    Additional mRNA sequence: 

    AB058726.1 AK290095.1 AK303369.1 AK303647.1 AY157622.1 BC005994.1 

    6 DOTS entries:

    DT.70104413  DT.100784977  DT.95163967  DT.95340051  DT.100796081  DT.40195494 

    Selected AceView cDNA sequences (see all 170):

    AA258886 CB163101 CD237909 CK825418 AA761743 AL600580 BM992369 AA295831 
    BQ771811 AA035532 BQ213587 AI651414 AA360951 AA258766 AI863068 BM467953 
    BQ005292 BE766296 AA281329 BM981416 AI218919 BG122271 AI520918 AB058726 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PHF6    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
    SP1:                          -                                                     -                     
    SP2:                          -                                                     -                     
    SP3:                          -                                                                           
    SP4:                                                                                                      
    SP5:                          -           -                                                               


    ECgene alternative splicing isoforms for PHF6

    (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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    PHF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATGTATAT
    PHF6 Expression
    About this image


    PHF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Bud Mesenchyme Cells Limb Bud
             Limb Bud
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    PHF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHF6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.356501

    UniProtKB/Swiss-Prot: PHF6_HUMAN, Q8IWS0
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including PHF6: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF6

    (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 chordates.

    Orthologs for PHF6 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phf61 , 5 PHD finger protein 61, 5 92.49(n)1
    97.53(a)1
      X (29.28 cM)5
    709981  NM_027642.11  NP_081918.11 
     529122665 
    chicken
    (Gallus gallus)
    Aves PHF61 PHD finger protein 6 84.47(n)
    89.59(a)
      422235  XM_004940662.1  XP_004940719.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHF66
    PHD finger protein 6
    87(a)
    1 ↔ 1
    GL343761.1(209204-215074)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125682 Xenopus laevis transcribed sequence with weak similarity more 79.11(n)    BX853085.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa22g032 wufa22g03 74.36(n)   327070  BC044163.1 


    ENSEMBL Gene Tree for PHF6 (if available)
    TreeFam Gene Tree for PHF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHF6 gene
    PHF112  
    1 SIMAP similar gene for PHF6 using alignment to 3 protein entries:     PHF6_HUMAN (see all proteins):
    G2E3

    Find genes that share paralogs with PHF6           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)
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    Selected SNPs for PHF6 (see all 679)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0176374
    Boerjeson-Forssman-Lehmann syndrome (BFLS)4--see VAR_0176372 R G mis40--------
    VAR_0176344
    Boerjeson-Forssman-Lehmann syndrome (BFLS)4--see VAR_0176342 C F mis40--------
    VAR_0176364
    Boerjeson-Forssman-Lehmann syndrome (BFLS)4--see VAR_0176362 K E mis40--------
    rs289351791,2,4
    Boerjeson-Forssman-Lehmann syndrome (BFLS)4--see VAR_0176332 mis40--------
    VAR_0176354
    Boerjeson-Forssman-Lehmann syndrome (BFLS)4--see VAR_0176352 H R mis40--------
    rs1048949181,2
    Cpathogenic1133505552(+) ACTGCA/GTATAT 6 H R mis10--------
    rs1048949171,2
    Cpathogenic1133505566(+) ATGCCA/GAGAAG 6 K E mis10--------
    rs1048949191,2
    Cpathogenic1133506684(+) CATCAA/GGAGCA 6 R G mis10--------
    rs1115632421,2
    C,F--133463035(+) GATATT/CTCCCT 3 -- us2k11Minor allele frequency- C:0.00NA 1
    rs1851128951,2
    C--133463066(+) TTCCTC/TTCCAC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for PHF6 (133507283 - 133562822 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PHF6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521188CNV Loss19592680

    Human Gene Mutation Database (HGMD): PHF6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHF6
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300414   
    OMIM disorders: 301900  
    UniProtKB/Swiss-Prot: PHF6_HUMAN, Q8IWS0
  • Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]: A X-linked recessive disorder characterized by
    moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia,
    swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for PHF6:    
    About MalaCards
    borjeson-forssman-lehmann syndrome    hypogonadism    obesity

    2 diseases from the University of Copenhagen DISEASES database for PHF6:
    Borjeson-Forssman-Lehmann syndrome     Intellectual disability

    Find genes that share disorders with PHF6           About GenesLikeMe

    2 Novoseek inferred disease relationships for PHF6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    borjeson-forssman-lehmann syndrome 98.1 5 15994862 (2), 14756673 (1), 15580208 (1), 12415272 (1)
    obesity 41.3 1 17698420 (1)


    Export disorders for PHF6 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 PHF6 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with PHF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome. (PubMed id 12415272)1, 2, 3, 9 Lower K.M....Gecz J. (Nat. Genet. 2002)
    2. PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. (PubMed id 23229552)1, 2 Wang J....Chen J. (J. Biol. Chem. 2013)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. A novel PHF6 mutation results in enhanced exon skipping and mild BAPrjeson-Forssman-Lehmann syndrome. (PubMed id 15466013)1, 3 VallAce D....Picketts D.J. (J. Med. Genet. 2004)
    6. 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)
    7. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    8. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. (PubMed id 15994862)1, 9 Crawford J....GAccz J. (J. Med. Genet. 2006)
    9. The clinical picture of the BAPrjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. (PubMed id 14756673)1, 9 Turner G....Partington M. (Clin. Genet. 2004)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 84295 HGNC: 18145 AceView: PHF6 Ensembl:ENSG00000156531 euGenes: HUgn84295
    ECgene: PHF6 H-InvDB: PHF6

    (According to HUGE)
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    HUGE: KIAA1823

    (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 PHF6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHF6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PHF6 gene:
    Search GeneIP for patents involving PHF6

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



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