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

Gene ID: 100288801, updated on 3-Apr-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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Location:
3p12.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (75664328..75667173)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (75700553..75720364)
105.20220307 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
  • 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
    C9JUX3
    Related
    ENSP00000419432.1, ENST00000464571.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

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

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

Gene LinkOut

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