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    PHF6 PHD finger protein 6 [ Homo sapiens (human) ]

    Gene ID: 84295, updated on 8-Oct-2017
    Official Symbol
    PHF6provided by HGNC
    Official Full Name
    PHD finger protein 6provided by HGNC
    Primary source
    HGNC:HGNC:18145
    See related
    Ensembl:ENSG00000156531 MIM:300414; Vega:OTTHUMG00000022453
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BFLS; BORJ; CENP-31
    Summary
    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 cognitive disability, 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]
    Orthologs
    Location:
    Xq26.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (134373312..134428792)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133507324..133562822)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 160 Neighboring gene 5'-nucleotidase domain containing 1 pseudogene Neighboring gene hypoxanthine phosphoribosyltransferase 1 Neighboring gene ribosomal protein L36a pseudogene 54

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Borjeson-Forssman-Lehmann syndrome
    MedGen: C0265339 OMIM: 301900 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation PagePubMed
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC14797

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribonucleoprotein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    PHD finger protein 6
    Names
    PHD-like zinc finger protein
    centromere protein 31

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008886.1 RefSeqGene

      Range
      5001..60481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_629

    mRNA and Protein(s)

    1. NM_001015877.1NP_001015877.1  PHD finger protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001015877.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also called the "PHF6a" variant) represents the shortest transcript and encodes the shortest isoform (1).
      Source sequence(s)
      AB058726, AW297001, AY157622, BG122271, CF242973
      Consensus CDS
      CCDS14639.1
      UniProtKB/Swiss-Prot
      Q8IWS0
      Related
      ENSP00000359839.3, OTTHUMP00000024062, ENST00000370803.7, OTTHUMT00000058364
      Conserved Domains (2) summary
      cd15710
      Location:17131
      ePHD1_PHF6; Extended PHD finger 1 found in PHD finger protein 6 (PHF6)
      cd15711
      Location:212329
      ePHD2_PHF6; Extended PHD finger 2 found in PHD finger protein 6 (PHF6)
    2. NM_032335.3NP_115711.2  PHD finger protein 6 isoform 2

      See identical proteins and their annotated locations for NP_115711.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate termination site, resulting in a distinct C-terminus (isoform 2).
      Source sequence(s)
      AK290095, BC005994, DR000282
      Consensus CDS
      CCDS14640.1
      UniProtKB/Swiss-Prot
      Q8IWS0
      Related
      ENSP00000359836.4, OTTHUMP00000024064, ENST00000370800.4, OTTHUMT00000058366
      Conserved Domains (2) summary
      cd15710
      Location:17131
      ePHD1_PHF6; Extended PHD finger 1 found in PHD finger protein 6 (PHF6)
      cl22851
      Location:213283
      PHD_SF; PHD finger superfamily
    3. NM_032458.2NP_115834.1  PHD finger protein 6 isoform 1

      See identical proteins and their annotated locations for NP_115834.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also called the 'PHF6b' variant) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB058726, AW297001, AY157622, BG122271
      Consensus CDS
      CCDS14639.1
      UniProtKB/Swiss-Prot
      Q8IWS0
      Related
      ENSP00000329097.3, OTTHUMP00000024065, ENST00000332070.7, OTTHUMT00000058367
      Conserved Domains (2) summary
      cd15710
      Location:17131
      ePHD1_PHF6; Extended PHD finger 1 found in PHD finger protein 6 (PHF6)
      cd15711
      Location:212329
      ePHD2_PHF6; Extended PHD finger 2 found in PHD finger protein 6 (PHF6)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      134373312..134428792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      133419127..133474595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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