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

Gene ID: 448831, updated on 13-May-2022

Summary

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; AllianceGenome:HGNC:19136
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
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
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Genomic context

See FRG2 in Genome Data Viewer
Location:
4q35.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190024367..190027256, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193392577..193395463, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (190945522..190948411, complement)

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

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
protein FRG2
Names
FSHD region gene 2 protein

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_001005217.4NP_001005217.1  protein FRG2 isoform 2

    See identical proteins and their annotated locations for NP_001005217.1

    Status: VALIDATED

    Source sequence(s)
    AF146191
    Consensus CDS
    CCDS34123.1
    UniProtKB/Swiss-Prot
    Q64ET8
    Related
    ENSP00000368039.1, ENST00000378763.1
    Conserved Domains (1) summary
    pfam15315
    Location:61241
    FRG2; Facioscapulohumeral muscular dystrophy candidate 2
  2. NM_001286820.2NP_001273749.1  protein FRG2 isoform 1

    See identical proteins and their annotated locations for NP_001273749.1

    Status: VALIDATED

    Source sequence(s)
    AF146191
    Consensus CDS
    CCDS68834.1
    UniProtKB/Swiss-Prot
    Q64ET8
    Related
    ENSP00000424015.1, ENST00000504750.6
    Conserved Domains (1) summary
    pfam15315
    Location:62242
    FRG2; Facioscapulohumeral muscular dystrophy candidate 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    190024367..190027256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495300.1 Reference GRCh38.p14 PATCHES

    Range
    116955..119842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495301.1 Reference GRCh38.p14 PATCHES

    Range
    116955..119842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187650.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    361898..364787 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    193392577..193395463 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)