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Protein

Protein FRG2

Gene

FRG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-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

HGNCiHGNC:19136. FRG2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162388919.

Polymorphism and mutation databases

BioMutaiFRG2.
DMDMi74708395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 278278Protein FRG2PRO_0000300690Add
BLAST

Proteomic databases

PaxDbiQ64ET8.
PRIDEiQ64ET8.

PTM databases

PhosphoSiteiQ64ET8.

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

CleanExiHS_FRG2.

Organism-specific databases

HPAiHPA039264.
HPA047769.

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.
OMAiNEDSDLH.
OrthoDBiEOG7C5M8R.
PhylomeDBiQ64ET8.
TreeFamiTF342559.

Family and domain databases

InterProiIPR026245. FRG2.
[Graphical view]
PANTHERiPTHR31883. PTHR31883. 1 hit.
PfamiPF15315. FRG2. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti8 – 81S → P in AAI44573 (PubMed:15815621).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei59 – 591Q → QA in isoform 2. 1 PublicationVSP_055076

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]
XP_011530303.1. XM_011532001.1. [Q64ET8-2]
XP_011545645.1. XM_011547343.1. [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

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]
XP_011530303.1. XM_011532001.1. [Q64ET8-2]
XP_011545645.1. XM_011547343.1. [Q64ET8-2]
UniGeneiHs.626907.

3D structure databases

ProteinModelPortaliQ64ET8.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiQ64ET8.

Polymorphism and mutation databases

BioMutaiFRG2.
DMDMi74708395.

Proteomic databases

PaxDbiQ64ET8.
PRIDEiQ64ET8.

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]
GeneIDi448831.
KEGGihsa:448831.
UCSCiuc003izv.4. human. [Q64ET8-1]

Organism-specific databases

CTDi448831.
GeneCardsiFRG2.
HGNCiHGNC:19136. FRG2.
HPAiHPA039264.
HPA047769.
MIMi609032. gene.
neXtProtiNX_Q64ET8.
PharmGKBiPA162388919.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JDY8. Eukaryota.
ENOG4111DM4. LUCA.
GeneTreeiENSGT00530000064266.
HOGENOMiHOG000112644.
HOVERGENiHBG106627.
InParanoidiQ64ET8.
OMAiNEDSDLH.
OrthoDBiEOG7C5M8R.
PhylomeDBiQ64ET8.
TreeFamiTF342559.

Miscellaneous databases

GenomeRNAii448831.
NextBioi111423.
PROiQ64ET8.
SOURCEiSearch...

Gene expression databases

CleanExiHS_FRG2.

Family and domain databases

InterProiIPR026245. FRG2.
[Graphical view]
PANTHERiPTHR31883. PTHR31883. 1 hit.
PfamiPF15315. FRG2. 1 hit.
[Graphical view]
PRINTSiPR02074. PROTEINFRG2.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients."
    Rijkers T., Deidda G., van Koningsbruggen S., van Geel M., Lemmers R.J.L.F., van Deutekom J.C.T., Figlewicz D., Hewitt J.E., Padberg G.W., Frants R.R., van der Maarel S.M.
    J. Med. Genet. 41:826-836(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).

Entry informationi

Entry nameiFRG2_HUMAN
AccessioniPrimary (citable) accession number: Q64ET8
Secondary accession number(s): B7ZMJ1, E7EN36
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 25, 2004
Last modified: March 16, 2016
This is version 80 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.