FRG2C_HUMAN
ID FRG2C_HUMAN Reviewed; 282 AA.
AC A6NGY1;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=Protein FRG2-like-2;
DE AltName: Full=FSHD region gene 2 protein family member C;
DE AltName: Full=HSA3-FRG2;
GN Name=FRG2C;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP IDENTIFICATION.
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).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the FRG2 family. {ECO:0000305}.
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DR EMBL; AC108724; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43108.1; -.
DR RefSeq; NP_001118231.1; NM_001124759.1.
DR RefSeq; XP_011531556.1; XM_011533254.2.
DR AlphaFoldDB; A6NGY1; -.
DR STRING; 9606.ENSP00000312299; -.
DR iPTMnet; A6NGY1; -.
DR PhosphoSitePlus; A6NGY1; -.
DR BioMuta; FRG2C; -.
DR MassIVE; A6NGY1; -.
DR PaxDb; A6NGY1; -.
DR PeptideAtlas; A6NGY1; -.
DR PRIDE; A6NGY1; -.
DR ProteomicsDB; 1163; -.
DR DNASU; 100288801; -.
DR Ensembl; ENST00000308062.8; ENSP00000312299.3; ENSG00000172969.8.
DR GeneID; 100288801; -.
DR KEGG; hsa:100288801; -.
DR MANE-Select; ENST00000308062.8; ENSP00000312299.3; NM_001124759.5; NP_001118231.1.
DR UCSC; uc003dpt.6; human.
DR CTD; 100288801; -.
DR GeneCards; FRG2C; -.
DR HGNC; HGNC:33626; FRG2C.
DR HPA; ENSG00000172969; Not detected.
DR neXtProt; NX_A6NGY1; -.
DR OpenTargets; ENSG00000172969; -.
DR PharmGKB; PA162388921; -.
DR VEuPathDB; HostDB:ENSG00000172969; -.
DR eggNOG; ENOG502SNAQ; Eukaryota.
DR GeneTree; ENSGT00530000064266; -.
DR InParanoid; A6NGY1; -.
DR OMA; MQHPTDQ; -.
DR OrthoDB; 986863at2759; -.
DR PhylomeDB; A6NGY1; -.
DR TreeFam; TF342559; -.
DR PathwayCommons; A6NGY1; -.
DR SignaLink; A6NGY1; -.
DR BioGRID-ORCS; 100288801; 100 hits in 987 CRISPR screens.
DR GenomeRNAi; 100288801; -.
DR Pharos; A6NGY1; Tdark.
DR PRO; PR:A6NGY1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A6NGY1; protein.
DR Bgee; ENSG00000172969; Expressed in adult mammalian kidney and 8 other tissues.
DR ExpressionAtlas; A6NGY1; baseline and differential.
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 3: Inferred from homology;
KW Nucleus; Reference proteome.
FT CHAIN 1..282
FT /note="Protein FRG2-like-2"
FT /id="PRO_0000300692"
FT REGION 1..96
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 249..282
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 11..30
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 31..52
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 53..67
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 76..91
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 12
FT /note="C -> R (in dbSNP:rs13073018)"
FT /id="VAR_060156"
FT VARIANT 210
FT /note="L -> M (in dbSNP:rs13096122)"
FT /id="VAR_060157"
SQ SEQUENCE 282 AA; 30798 MW; A27D0A9024909236 CRC64;
MGKGNEDPDL HCSSIQCSTD QPPFQQISFT EKGSDEKKPF KGKGKTAFSH SSEKHTQRQA
GSDPNPNKEN SEETKLKAGN STAGSEPESS SYQENCRKRK ISSKDICQDR AGNCPEEECN
LTLNKKSRSS TAVHNSEIQE TCDAHHRGSS RACTGRSKRH RSRALEVQTP SLRKSLVTSV
RAMSEAVYQD LAQVWAQQIH SPLTCEQLTL LTRLRGPLCA QVQTLYSMAT QAAYVFPAES
WLVPATLPGP GDSALDREAH PFPGQEITEP VSGSDEAKLG AP
