ID GGD2_HUMAN STANDARD; PRT; 146 AA. AC Q9HD64; Q8WWG5; Q8WWG6; Q969J6; DT 16-OCT-2001 (Rel. 40, Created) DT 16-OCT-2001 (Rel. 40, Last sequence update) DT 05-JUL-2004 (Rel. 44, Last annotation update) DE G antigen family D 2 protein (XAGE-1 protein). GN Name=GAGED2; Synonyms=XAGE1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. (ISOFORM A). RC TISSUE=Testis; RX MEDLINE=20441565; PubMed=10987281; RA Liu X.F., Helman L.J., Yeung C., Bera T.K., Lee B., Pastan I.; RT "XAGE-1, a new gene that is frequently expressed in Ewing's sarcoma."; RL Cancer Res. 60:4752-4755(2000). RN [2] RP SEQUENCE FROM N.A. (ISOFORMS B; C AND D). RX MEDLINE=22021429; PubMed=11992404; DOI=10.1002/ijc.10371; RA Zendman A.J.W., Van Kraats A.A., Weidle U.H., Ruiter D.J., RA Van Muijen G.N.P.; RT "The XAGE family of cancer/testis-associated genes: alignment and RT expression profile in normal tissues, melanoma lesions and Ewing's RT sarcoma."; RL Int. J. Cancer 99:361-369(2002). RN [3] RP SEQUENCE FROM N.A. (ISOFORM B). RC TISSUE=Lung; RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). CC -!- FUNCTION: Unknown. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=A; Synonyms=XAGE-1a; CC IsoId=Q9HD64-1; Sequence=Displayed; CC Name=B; Synonyms=XAGE-1b; CC IsoId=Q9HD64-2; Sequence=VSP_001595; CC Name=C; Synonyms=XAGE-1c; CC IsoId=Q9HD64-3; Sequence=VSP_001594; CC Name=D; Synonyms=XAGE-1d; CC IsoId=Q9HD64-4; Sequence=VSP_001595, VSP_001596; CC -!- TISSUE SPECIFICITY: Highly expressed in normal testis, in Ewing's CC cell lines, in some Ewing's sarcoma patient samples, and in one of CC one alveolar rhabdomyosarcoma patient sample. CC -!- SIMILARITY: Belongs to the GAGE family. 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; AF251237; AAG01401.1; -. DR EMBL; AJ318878; CAC82986.1; -. DR EMBL; AJ318879; CAC82987.1; -. DR EMBL; AJ290447; CAC38107.1; -. DR EMBL; AJ400997; CAC38108.1; -. DR EMBL; BC009538; AAH09538.1; -. DR Genew; HGNC:4111; GAGED2. DR MIM; 300289; -. DR InterPro; IPR008625; GAGE. DR Pfam; PF05831; GAGE; 1. KW Alternative splicing; Multigene family. FT VARSPLIC 1 50 MLLWCPPQCACSLGVFPSAPSPVWGTRRSCEPATRVPEVWI FT LSPLLRHGG -> MRCHAHGPSCLVTAITREEGGPRSGGAQ FT AKLGCCWGYPSPRSTWNPDRRFWTPQTGPGEGRHER (in FT isoform C). FT /FTId=VSP_001594. FT VARSPLIC 1 65 Missing (in isoform B and isoform D). FT /FTId=VSP_001595. FT VARSPLIC 98 146 CATWKVICKSCISQTPGINLDLGSGVKVKIIPKEEHCKMPE FT AGEEQPQV -> VLGREMRDMEGDLQELHQSNTGDKSGFGF FT RRQGEDNT (in isoform D). FT /FTId=VSP_001596. SQ SEQUENCE 146 AA; 16163 MW; 4B4FC1E5C7434F21 CRC64; MLLWCPPQCA CSLGVFPSAP SPVWGTRRSC EPATRVPEVW ILSPLLRHGG HTQTQNHTAS PRSPVMESPK KKNQQLKVGI LHLGSRQKKI RIQLRSQCAT WKVICKSCIS QTPGINLDLG SGVKVKIIPK EEHCKMPEAG EEQPQV //