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 24-JAN-2024, entry version 109. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 9606-ENSP00000312299; -. DR PeptideAtlas; A6NGY1; -. DR ProteomicsDB; 1163; -. DR Antibodypedia; 82447; 1 antibodies from 1 providers. 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 AGR; HGNC:33626; -. 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; 5126795at2759; -. DR PhylomeDB; A6NGY1; -. DR TreeFam; TF342559; -. DR PathwayCommons; A6NGY1; -. DR SignaLink; A6NGY1; -. DR BioGRID-ORCS; 100288801; 102 hits in 1066 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 primordial germ cell in gonad and 9 other cell types or tissues. DR ExpressionAtlas; A6NGY1; baseline and differential. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR InterPro; IPR026245; FRG2. DR PANTHER; PTHR31883:SF1; PROTEIN FRG2-LIKE-2; 1. DR PANTHER; PTHR31883; PROTEIN FRG2-RELATED; 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 //