ID GAGD2_HUMAN Reviewed; 160 AA. AC Q9HD64; A6NJ94; Q5JPP0; Q5JPP3; Q8WWG5; Q8WWG6; Q969J6; DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot. DT 19-JUL-2004, sequence version 2. DT 03-MAR-2009, entry version 66. DE RecName: Full=G antigen family D member 2; DE AltName: Full=Protein XAGE-1; DE AltName: Full=Cancer/testis antigen 12.1; DE Short=CT12.1; GN Name=XAGE1; Synonyms=GAGED2, XAGE1A; GN and GN Name=XAGE1B; GN and GN Name=XAGE1C; GN and GN Name=XAGE1D; GN and GN Name=XAGE1E; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B). 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 NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor RT vector."; RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., RA Williams G., Williams L., Williamson A., Williamson H., Wilming L., RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). RC TISSUE=Lung; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP TISSUE SPECIFICITY, AND ISOFORM B INITIATOR METHIONINE. RX PubMed=12479262; RA Egland K.A., Kumar V., Duray P., Pastan I.; RT "Characterization of overlapping XAGE-1 transcripts encoding a cancer RT testis antigen expressed in lung, breast, and other types of RT cancers."; RL Mol. Cancer Ther. 1:441-450(2002). CC -!- FUNCTION: Unknown. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=C; Synonyms=XAGE-1c; CC IsoId=Q9HD64-3; Sequence=Displayed; CC Name=B; Synonyms=XAGE-1a, XAGE-1b; CC IsoId=Q9HD64-2; Sequence=VSP_001595; CC Note=XAGE-1a and XAGE-1b mRNAs are produced by alternative CC promoter usage. However, for both isoforms, the translation CC initiator codon remains the same, generating an identical CC protein. XAGE-1b is the predominant transcript, compared to CC XAGE-1a; CC Name=D; Synonyms=XAGE-1d; CC IsoId=Q9HD64-4; Sequence=VSP_001595, VSP_001596; CC -!- TISSUE SPECIFICITY: In normal tissues, highly expressed in testis. CC Expressed also in many different types of cancers: highly CC expressed in breast cancer, prostate cancer and many types of lung CC cancers, including squamous cell carcinoma, small cell carcinoma, CC non-small cell carcinoma, and adenocarcinoma, as well as in CC Ewing's cell lines, in some Ewing's sarcoma patient samples, and CC in one of 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; ALT_INIT; mRNA. DR EMBL; AJ318878; CAC82986.1; -; mRNA. DR EMBL; AJ318879; CAC82987.1; -; mRNA. DR EMBL; AJ290447; CAC38107.1; -; mRNA. DR EMBL; BT007099; AAP35763.1; -; mRNA. DR EMBL; AJ400997; CAC38108.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41526.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41528.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41530.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41531.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41533.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41534.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40888.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40890.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40894.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40895.1; -; Genomic_DNA. DR EMBL; BC009538; AAH09538.1; -; mRNA. DR IPI; IPI00006982; -. DR IPI; IPI00219938; -. DR IPI; IPI00219939; -. DR RefSeq; NP_001091060.1; -. DR RefSeq; NP_001091064.1; -. DR RefSeq; NP_001091071.1; -. DR RefSeq; NP_001091072.1; -. DR RefSeq; NP_065144.1; -. DR RefSeq; NP_597673.1; -. DR RefSeq; NP_597674.1; -. DR UniGene; Hs.112208; -. DR UniGene; Hs.546096; -. DR PRIDE; Q9HD64; -. DR Ensembl; ENSG00000183461; Homo sapiens. DR Ensembl; ENSG00000204375; Homo sapiens. DR Ensembl; ENSG00000204376; Homo sapiens. DR Ensembl; ENSG00000204379; Homo sapiens. DR Ensembl; ENSG00000204382; Homo sapiens. DR GeneID; 653048; -. DR GeneID; 653067; -. DR GeneID; 653219; -. DR GeneID; 653220; -. DR GeneID; 9503; -. DR KEGG; hsa:653067; -. DR KEGG; hsa:653219; -. DR KEGG; hsa:9503; -. DR GeneCards; GC0XM052545; -. DR GeneCards; GC0XM052561; -. DR GeneCards; GC0XP052257; -. DR GeneCards; GC0XP052529; -. DR GeneCards; GC0XP052532; -. DR H-InvDB; HIX0020425; -. DR H-InvDB; HIX0077113; -. DR H-InvDB; HIX0077114; -. DR H-InvDB; HIX0077115; -. DR H-InvDB; HIX0077116; -. DR HGNC; HGNC:4111; XAGE1. DR HGNC; HGNC:25400; XAGE1B. DR HGNC; HGNC:30679; XAGE1C. DR HGNC; HGNC:21508; XAGE1D. DR HGNC; HGNC:18372; XAGE1E. DR MIM; 300289; gene. DR PharmGKB; PA28526; -. DR HOGENOM; Q9HD64; -. DR HOVERGEN; Q9HD64; -. DR LinkHub; Q9HD64; -. DR NextBio; 122635; -. DR Bgee; Q9HD64; -. DR CleanEx; HS_XAGE1B; -. DR CleanEx; HS_XAGE1D; -. DR GermOnline; ENSG00000183461; Homo sapiens. DR GermOnline; ENSG00000204375; Homo sapiens. DR GermOnline; ENSG00000204376; Homo sapiens. DR GermOnline; ENSG00000204379; Homo sapiens. DR GermOnline; ENSG00000204382; Homo sapiens. DR InterPro; IPR008625; GAGE. DR Pfam; PF05831; GAGE; 1. PE 2: Evidence at transcript level; KW Alternative splicing. FT CHAIN 1 160 G antigen family D member 2. FT /FTId=PRO_0000148349. FT VAR_SEQ 1 79 Missing (in isoform B and isoform D). FT /FTId=VSP_001595. FT VAR_SEQ 112 160 CATWKVICKSCISQTPGINLDLGSGVKVKIIPKEEHCKMPE FT AGEEQPQV -> VLGREMRDMEGDLQELHQSNTGDKSGFGF FT RRQGEDNT (in isoform D). FT /FTId=VSP_001596. SQ SEQUENCE 160 AA; 17751 MW; 8EF00D22A67008A7 CRC64; MRCHAHGPSC LVTAITREEG GPRSGGAQAK LGCCWGYPSP RSTWNPDRRF WTPQTGPGEG RHERHTQTQN HTASPRSPVM ESPKKKNQQL KVGILHLGSR QKKIRIQLRS QCATWKVICK SCISQTPGIN LDLGSGVKVK IIPKEEHCKM PEAGEEQPQV //