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    FRG2 FSHD region gene 2 [ Homo sapiens (human) ]

    Gene ID: 448831, updated on 3-Sep-2017
    Official Symbol
    FRG2provided by HGNC
    Official Full Name
    FSHD region gene 2provided by HGNC
    Primary source
    HGNC:HGNC:19136
    See related
    Ensembl:ENSG00000205097 MIM:609032; Vega:OTTHUMG00000160339
    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
    FRG2A
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    Location:
    4q35.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (190024367..190027257, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (190945522..190948412, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 175 Neighboring gene uncharacterized LOC107986243 Neighboring gene double homeobox 4 like 9 Neighboring gene retinoic acid receptor responder 2 pseudogene 4 Neighboring gene angiogenic factor with G-patch and FHA domains 1 pseudogene 1

    • 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?

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein FRG2
    Names
    FSHD region gene 2 protein

    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_001005217.1NP_001005217.1  protein FRG2 isoform 2

      See identical proteins and their annotated locations for NP_001005217.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AY714545
      Consensus CDS
      CCDS34123.1
      UniProtKB/Swiss-Prot
      Q64ET8
      Related
      ENSP00000368039.1, OTTHUMP00000218066, ENST00000378763.1, OTTHUMT00000360294
      Conserved Domains (1) summary
      pfam15315
      Location:61241
      FRG2; Facioscapulohumeral muscular dystrophy candidate 2
    2. NM_001286820.1NP_001273749.1  protein FRG2 isoform 1

      See identical proteins and their annotated locations for NP_001273749.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY714545, BC144572
      Consensus CDS
      CCDS68834.1
      UniProtKB/Swiss-Prot
      Q64ET8
      Related
      ENSP00000424015.1, OTTHUMP00000218072, ENST00000504750.5, OTTHUMT00000360307
      Conserved Domains (1) summary
      pfam15315
      Location:62242
      FRG2; Facioscapulohumeral muscular dystrophy candidate 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      190024367..190027257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015495300.1 Reference GRCh38.p7 PATCHES

      Range
      116955..119843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015495301.1 Reference GRCh38.p7 PATCHES

      Range
      116955..119843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187650.1 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      361898..364788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      190930255..190933142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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