Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein FRG2

Gene

FRG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FRG2
Alternative name(s):
FSHD region gene 2 protein
Gene namesi
Name:FRG2
Synonyms:FRG2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000205097.6
HGNCiHGNC:19136 FRG2
MIMi609032 gene
neXtProtiNX_Q64ET8

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi448831
OpenTargetsiENSG00000205097
PharmGKBiPA162388919

Polymorphism and mutation databases

BioMutaiFRG2
DMDMi74708395

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003006901 – 278Protein FRG2Add BLAST278

Proteomic databases

PaxDbiQ64ET8
PeptideAtlasiQ64ET8
PRIDEiQ64ET8

PTM databases

iPTMnetiQ64ET8
PhosphoSitePlusiQ64ET8

Expressioni

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

BgeeiENSG00000205097
CleanExiHS_FRG2

Organism-specific databases

HPAiHPA039264
HPA047769

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000368039

Structurei

3D structure databases

ProteinModelPortaliQ64ET8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FRG2 family.Curated

Phylogenomic databases

eggNOGiENOG410JDY8 Eukaryota
ENOG4111DM4 LUCA
GeneTreeiENSGT00530000064266
HOGENOMiHOG000112644
HOVERGENiHBG106627
InParanoidiQ64ET8
OMAiALQTVYT
OrthoDBiEOG091G0XBW
PhylomeDBiQ64ET8
TreeFamiTF342559

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 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
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
Sequence conflicti8S → P in AAI44573 (PubMed:15815621).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05507659Q → QA in isoform 2. 1 Publication1

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]
UniGeneiHs.626907

Genome annotation databases

EnsembliENST00000378763; ENSP00000368039; ENSG00000205097 [Q64ET8-1]
ENST00000504750; ENSP00000424015; ENSG00000205097 [Q64ET8-2]
ENST00000611713; ENSP00000482196; ENSG00000274972 [Q64ET8-1]
ENST00000629452; ENSP00000485877; ENSG00000274972 [Q64ET8-2]
GeneIDi448831
KEGGihsa:448831
UCSCiuc003izv.4 human [Q64ET8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiFRG2_HUMAN
AccessioniPrimary (citable) accession number: Q64ET8
Secondary accession number(s): B7ZMJ1, E7EN36
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 25, 2004
Last modified: February 28, 2018
This is version 91 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health