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    PYGO2 pygopus family PHD finger 2 [ Homo sapiens (human) ]

    Gene ID: 90780, updated on 15-Jun-2019

    Summary

    Official Symbol
    PYGO2provided by HGNC
    Official Full Name
    pygopus family PHD finger 2provided by HGNC
    Primary source
    HGNC:HGNC:30257
    See related
    Ensembl:ENSG00000163348 MIM:606903
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    1190004M21Rik
    Expression
    Ubiquitous expression in thyroid (RPKM 16.3), ovary (RPKM 15.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See PYGO2 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (154957026..154961782, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154929502..154934258, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphomevalonate kinase Neighboring gene PBX homeobox interacting protein 1 Neighboring gene uncharacterized LOC101928120 Neighboring gene SHC adaptor protein 1 Neighboring gene microRNA 4258 Neighboring gene CDC28 protein kinase regulatory subunit 1B

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
      Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
    • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
      Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PBXIP1

    Homology

    Clone Names

    • FLJ33226

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone acetyltransferase regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    histone binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone H3-K4 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mammary gland epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid nucleus differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    beta-catenin-TCF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    pygopus homolog 2
    Names
    pygopus 2

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_138300.4NP_612157.1  pygopus homolog 2

      See identical proteins and their annotated locations for NP_612157.1

      Status: VALIDATED

      Source sequence(s)
      BC006132, CN260857
      Consensus CDS
      CCDS1075.1
      UniProtKB/Swiss-Prot
      Q9BRQ0
      UniProtKB/TrEMBL
      Q5T170
      Related
      ENSP00000357442.2, ENST00000368457.3
      Conserved Domains (1) summary
      cd15636
      Location:329382
      PHD_PYGO2; PHD finger found in pygopus homolog 2 (PYGO2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      154957026..154961782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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