FRG2_HUMAN
ID FRG2_HUMAN Reviewed; 278 AA.
AC Q64ET8; B7ZMJ1; E7EN36;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-OCT-2004, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Protein FRG2;
DE AltName: Full=FSHD region gene 2 protein;
GN Name=FRG2; Synonyms=FRG2A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=15520407; DOI=10.1136/jmg.2004.019364;
RA Rijkers T., Deidda G., van Koningsbruggen S., van Geel M.,
RA Lemmers R.J.L.F., van Deutekom J.C.T., Figlewicz D., Hewitt J.E.,
RA Padberg G.W., Frants R.R., van der Maarel S.M.;
RT "FRG2, an FSHD candidate gene, is transcriptionally upregulated in
RT differentiating primary myoblast cultures of FSHD patients.";
RL J. Med. Genet. 41:826-836(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15520407}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q64ET8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q64ET8-2; Sequence=VSP_055076;
CC -!- TISSUE SPECIFICITY: Expression is undetectable in all tissues tested
CC except for differentiating myoblasts of FSHD patients, which display
CC low, yet distinct levels of expression, partly from FRG2, but
CC predominantly originating from its homolog on chromosome 10.
CC {ECO:0000269|PubMed:15520407}.
CC -!- SIMILARITY: Belongs to the FRG2 family. {ECO:0000305}.
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DR EMBL; AY714545; AAU14220.1; -; mRNA.
DR EMBL; AF146191; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC144572; AAI44573.1; -; mRNA.
DR CCDS; CCDS34123.1; -. [Q64ET8-1]
DR CCDS; CCDS68834.1; -. [Q64ET8-2]
DR RefSeq; NP_001005217.1; NM_001005217.1. [Q64ET8-1]
DR RefSeq; NP_001273749.1; NM_001286820.1. [Q64ET8-2]
DR AlphaFoldDB; Q64ET8; -.
DR BioGRID; 138664; 1.
DR IntAct; Q64ET8; 1.
DR STRING; 9606.ENSP00000424015; -.
DR iPTMnet; Q64ET8; -.
DR PhosphoSitePlus; Q64ET8; -.
DR BioMuta; FRG2; -.
DR DMDM; 74708395; -.
DR MassIVE; Q64ET8; -.
DR PaxDb; Q64ET8; -.
DR PeptideAtlas; Q64ET8; -.
DR PRIDE; Q64ET8; -.
DR Antibodypedia; 53242; 3 antibodies from 3 providers.
DR DNASU; 448831; -.
DR Ensembl; ENST00000378763.1; ENSP00000368039.1; ENSG00000205097.7. [Q64ET8-1]
DR Ensembl; ENST00000504750.6; ENSP00000424015.1; ENSG00000205097.7. [Q64ET8-2]
DR Ensembl; ENST00000611713.1; ENSP00000482196.1; ENSG00000274972.3. [Q64ET8-1]
DR Ensembl; ENST00000629452.2; ENSP00000485877.1; ENSG00000274972.3. [Q64ET8-2]
DR GeneID; 448831; -.
DR KEGG; hsa:448831; -.
DR MANE-Select; ENST00000504750.6; ENSP00000424015.1; NM_001286820.2; NP_001273749.1. [Q64ET8-2]
DR UCSC; uc003izv.4; human. [Q64ET8-1]
DR CTD; 448831; -.
DR DisGeNET; 448831; -.
DR GeneCards; FRG2; -.
DR HGNC; HGNC:19136; FRG2.
DR HPA; ENSG00000205097; Not detected.
DR MIM; 609032; gene.
DR neXtProt; NX_Q64ET8; -.
DR OpenTargets; ENSG00000205097; -.
DR PharmGKB; PA162388919; -.
DR VEuPathDB; HostDB:ENSG00000205097; -.
DR eggNOG; ENOG502SNAQ; Eukaryota.
DR GeneTree; ENSGT00530000064266; -.
DR HOGENOM; CLU_087494_0_0_1; -.
DR InParanoid; Q64ET8; -.
DR OMA; ESSSYWE; -.
DR OrthoDB; 986863at2759; -.
DR PhylomeDB; Q64ET8; -.
DR TreeFam; TF342559; -.
DR PathwayCommons; Q64ET8; -.
DR SignaLink; Q64ET8; -.
DR BioGRID-ORCS; 448831; 240 hits in 604 CRISPR screens.
DR GenomeRNAi; 448831; -.
DR Pharos; Q64ET8; Tbio.
DR PRO; PR:Q64ET8; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q64ET8; protein.
DR Bgee; ENSG00000205097; Expressed in stromal cell of endometrium and 4 other tissues.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR026245; FRG2.
DR PANTHER; PTHR31883; PTHR31883; 1.
DR Pfam; PF15315; FRG2; 1.
DR PRINTS; PR02074; PROTEINFRG2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Nucleus; Reference proteome.
FT CHAIN 1..278
FT /note="Protein FRG2"
FT /id="PRO_0000300690"
FT REGION 1..129
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 251..278
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 9..30
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 31..74
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 75..89
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 90..104
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 59
FT /note="Q -> QA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055076"
FT CONFLICT 8
FT /note="S -> P (in Ref. 2; AAI44573)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 278 AA; 30490 MW; 0BC344EC8529B8BA CRC64;
MGKGNEDSDL HCSSIQCSTD QPPFQQISFT EKGSDEKKPF KEKGKTAFSH SSEKHIQRQG
SEPNPNKENS EETKLKAGNS TAGSEPESSS YRENCRKRKM SSKDSCQDTA GNCPEKECSL
SLNKKSRSST AVHNSEIQET CDAHHRGHSR ACTGHSKRHR SRALGVQTPS IRKSLVTSVR
AMSEAVYQDL AQVWAQQIHS PLTCEQLTLL TRLRGPLCAQ VQTLYSMATQ AAYVFPAESW
LVPATLPGPG ESALDREAHP FPGQEITETV SGSDEAKL
