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Entry version 98 (08 May 2019)
Sequence version 1 (25 Oct 2004)
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Protein

Protein FRG2

Gene

FRG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein FRG2
Alternative name(s):
FSHD region gene 2 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FRG2
Synonyms:FRG2A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:19136 FRG2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609032 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q64ET8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
448831

Open Targets

More...
OpenTargetsi
ENSG00000205097

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162388919

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FRG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74708395

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003006901 – 278Protein FRG2Add BLAST278

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q64ET8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q64ET8

PeptideAtlas

More...
PeptideAtlasi
Q64ET8

PRoteomics IDEntifications database

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PRIDEi
Q64ET8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65915

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q64ET8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q64ET8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expression is undetectable in all tissues tested except for differentiating myoblasts of FSHD patients, which display low, yet distinct levels of expression, partly from FRG2, but predominantly originating from its homolog on chromosome 10.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000205097 Expressed in 6 organ(s), highest expression level in right hemisphere of cerebellum

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039264
HPA047769

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q64ET8, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000424015

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FRG2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410JDY8 Eukaryota
ENOG4111DM4 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000064266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112644

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q64ET8

Identification of Orthologs from Complete Genome Data

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OMAi
GHSRACT

Database of Orthologous Groups

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OrthoDBi
986863at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q64ET8

TreeFam database of animal gene trees

More...
TreeFami
TF342559

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026245 FRG2

The PANTHER Classification System

More...
PANTHERi
PTHR31883 PTHR31883, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15315 FRG2, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR02074 PROTEINFRG2

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q64ET8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGKGNEDSDL HCSSIQCSTD QPPFQQISFT EKGSDEKKPF KEKGKTAFSH
60 70 80 90 100
SSEKHIQRQG SEPNPNKENS EETKLKAGNS TAGSEPESSS YRENCRKRKM
110 120 130 140 150
SSKDSCQDTA GNCPEKECSL SLNKKSRSST AVHNSEIQET CDAHHRGHSR
160 170 180 190 200
ACTGHSKRHR SRALGVQTPS IRKSLVTSVR AMSEAVYQDL AQVWAQQIHS
210 220 230 240 250
PLTCEQLTLL TRLRGPLCAQ VQTLYSMATQ AAYVFPAESW LVPATLPGPG
260 270
ESALDREAHP FPGQEITETV SGSDEAKL
Length:278
Mass (Da):30,490
Last modified:October 25, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0BC344EC8529B8BA
GO
Isoform 2 (identifier: Q64ET8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     59-59: Q → QA

Note: No experimental confirmation available.
Show »
Length:279
Mass (Da):30,561
Checksum:iEE62C9AAF643729F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti8S → P in AAI44573 (PubMed:15815621).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05507659Q → QA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY714545 mRNA Translation: AAU14220.1
AF146191 Genomic DNA No translation available.
BC144572 mRNA Translation: AAI44573.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34123.1 [Q64ET8-1]
CCDS68834.1 [Q64ET8-2]

NCBI Reference Sequences

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RefSeqi
NP_001005217.1, NM_001005217.1 [Q64ET8-1]
NP_001273749.1, NM_001286820.1 [Q64ET8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378763; ENSP00000368039; ENSG00000205097 [Q64ET8-1]
ENST00000504750; ENSP00000424015; ENSG00000205097 [Q64ET8-2]
ENST00000611713; ENSP00000482196; ENSG00000274972 [Q64ET8-1]
ENST00000629452; ENSP00000485877; ENSG00000274972 [Q64ET8-2]
ENST00000644173; ENSP00000496323; ENSG00000285063 [Q64ET8-1]
ENST00000645766; ENSP00000495315; ENSG00000285063 [Q64ET8-1]
ENST00000646140; ENSP00000494024; ENSG00000285202 [Q64ET8-1]
ENST00000646368; ENSP00000494204; ENSG00000285202 [Q64ET8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
448831

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:448831

UCSC genome browser

More...
UCSCi
uc003izv.4 human [Q64ET8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY714545 mRNA Translation: AAU14220.1
AF146191 Genomic DNA No translation available.
BC144572 mRNA Translation: AAI44573.1
CCDSiCCDS34123.1 [Q64ET8-1]
CCDS68834.1 [Q64ET8-2]
RefSeqiNP_001005217.1, NM_001005217.1 [Q64ET8-1]
NP_001273749.1, NM_001286820.1 [Q64ET8-2]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ64ET8, 1 interactor
STRINGi9606.ENSP00000424015

PTM databases

iPTMnetiQ64ET8
PhosphoSitePlusiQ64ET8

Polymorphism and mutation databases

BioMutaiFRG2
DMDMi74708395

Proteomic databases

jPOSTiQ64ET8
PaxDbiQ64ET8
PeptideAtlasiQ64ET8
PRIDEiQ64ET8
ProteomicsDBi65915

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378763; ENSP00000368039; ENSG00000205097 [Q64ET8-1]
ENST00000504750; ENSP00000424015; ENSG00000205097 [Q64ET8-2]
ENST00000611713; ENSP00000482196; ENSG00000274972 [Q64ET8-1]
ENST00000629452; ENSP00000485877; ENSG00000274972 [Q64ET8-2]
ENST00000644173; ENSP00000496323; ENSG00000285063 [Q64ET8-1]
ENST00000645766; ENSP00000495315; ENSG00000285063 [Q64ET8-1]
ENST00000646140; ENSP00000494024; ENSG00000285202 [Q64ET8-1]
ENST00000646368; ENSP00000494204; ENSG00000285202 [Q64ET8-1]
GeneIDi448831
KEGGihsa:448831
UCSCiuc003izv.4 human [Q64ET8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
448831
DisGeNETi448831

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FRG2
HGNCiHGNC:19136 FRG2
HPAiHPA039264
HPA047769
MIMi609032 gene
neXtProtiNX_Q64ET8
OpenTargetsiENSG00000205097
PharmGKBiPA162388919

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410JDY8 Eukaryota
ENOG4111DM4 LUCA
GeneTreeiENSGT00530000064266
HOGENOMiHOG000112644
InParanoidiQ64ET8
OMAiGHSRACT
OrthoDBi986863at2759
PhylomeDBiQ64ET8
TreeFamiTF342559

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
448831

Protein Ontology

More...
PROi
PR:Q64ET8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000205097 Expressed in 6 organ(s), highest expression level in right hemisphere of cerebellum

Family and domain databases

InterProiView protein in InterPro
IPR026245 FRG2
PANTHERiPTHR31883 PTHR31883, 1 hit
PfamiView protein in Pfam
PF15315 FRG2, 1 hit
PRINTSiPR02074 PROTEINFRG2

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFRG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q64ET8
Secondary accession number(s): B7ZMJ1, E7EN36
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 25, 2004
Last modified: May 8, 2019
This is version 98 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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