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    PHLDA2 pleckstrin homology like domain family A member 2 [ Homo sapiens (human) ]

    Gene ID: 7262, updated on 6-Aug-2017
    Official Symbol
    PHLDA2provided by HGNC
    Official Full Name
    pleckstrin homology like domain family A member 2provided by HGNC
    Primary source
    HGNC:HGNC:12385
    See related
    Ensembl:ENSG00000181649 MIM:602131; Vega:OTTHUMG00000010926
    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
    IPL; BRW1C; BWR1C; HLDA2; TSSC3
    Summary
    This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]
    Orthologs
    Location:
    11p15.4
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (2928273..2929420, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2949503..2950650, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 member 18 antisense Neighboring gene cyclin dependent kinase inhibitor 1C Neighboring gene solute carrier family 22 member 18 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene small nucleolar RNA, H/ACA box 54 Neighboring gene cysteinyl-tRNA synthetase Neighboring gene RNA, U1 small nuclear 91, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of growth hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of spongiotrophoblast cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    pleckstrin homology-like domain family A member 2
    Names
    beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein
    imprinted in placenta and liver protein
    p17-BWR1C
    p17-Beckwith-Wiedemann region 1 C
    p17-Beckwith-Wiedemann region 1C
    tumor suppressing subchromosomal transferable fragment cDNA 3
    tumor suppressing subtransferable candidate 3
    tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein
    tumor-supressing STF cDNA 3

    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_009266.1 RefSeqGene

      Range
      5001..6148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003311.3NP_003302.1  pleckstrin homology-like domain family A member 2

      See identical proteins and their annotated locations for NP_003302.1

      Status: REVIEWED

      Source sequence(s)
      AF035444, AI659266
      Consensus CDS
      CCDS7741.1
      UniProtKB/Swiss-Prot
      Q53GA4
      Related
      ENSP00000319231.4, OTTHUMP00000012603, ENST00000314222.4, OTTHUMT00000030116
      Conserved Domains (2) summary
      smart00233
      Location:798
      PH; Pleckstrin homology domain
      pfam00169
      Location:794
      PH; PH domain

    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_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      2928273..2929420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187585.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      160388..161535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      2948223..2949370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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