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    FRG2C FSHD region gene 2 family member C [ Homo sapiens (human) ]

    Gene ID: 100288801, updated on 17-Sep-2024

    Summary

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    Official Symbol
    FRG2Cprovided by HGNC
    Official Full Name
    FSHD region gene 2 family member Cprovided by HGNC
    Primary source
    HGNC:HGNC:33626
    See related
    Ensembl:ENSG00000172969 AllianceGenome:HGNC:33626
    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
    Summary
    Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See FRG2C in Genome Data Viewer
    Location:
    3p12.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (75664328..75667173)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (75700553..75720364)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (75713479..75716324)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene angiogenic factor with G-patch and FHA domains 1 pseudogene 3 Neighboring gene retinoic acid receptor responder 2 pseudogene 1 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr3:75718139-75718640 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr3:75718641-75719140 Neighboring gene double homeobox 4 like 26 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 960

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. Rijkers T, et al. J Med Genet, 2004 Nov. PMID 15520407, Free PMC Article
    2. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. Beckers M, et al. Gene, 2001 Feb 7. PMID 11245978
    3. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FRG2-like-2
    Names
    FSHD region gene 2 family, member C-like
    FSHD region gene 2 protein family member C
    HSA3-FRG2

    NCBI Reference Sequences (RefSeq)

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    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_001124759.5 → NP_001118231.1  protein FRG2-like-2 isoform 1

      See identical proteins and their annotated locations for NP_001118231.1

      Status: VALIDATED

      Source sequence(s)
      AC108724
      Consensus CDS
      CCDS43108.1
      UniProtKB/Swiss-Prot
      A6NGY1
      UniProtKB/TrEMBL
      A0A0A0MSZ2
      Related
      ENSP00000312299.3, ENST00000308062.8
      Conserved Domains (1) summary
      pfam15315
      Location:62 → 242
      FRG2; Facioscapulohumeral muscular dystrophy candidate 2

    2. NM_001410775.1 → NP_001397704.1  protein FRG2-like-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108724
      Consensus CDS
      CCDS93313.1
      UniProtKB/TrEMBL
      A0A0A0MSZ2, C9JUX3
      Related
      ENSP00000419432.1, ENST00000464571.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      75664328..75667173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      75700553..75720364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344820.1 → XP_054200795.1  protein FRG2-like-2 isoform X1

      UniProtKB/Swiss-Prot
      A6NGY1
      UniProtKB/TrEMBL
      A0A0A0MSZ2

    2. XM_054344821.1 → XP_054200796.1  protein FRG2-like-2 isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSZ2, C9JUX3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGY1.1 GenPept UniProtKB/Swiss-Prot:A6NGY1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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