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Melanoma-associated antigen D2 (11B6) (Breast cancer-associated gene 1 protein) (BCG-1) (Hepatocellular carcinoma-associated protein JCL-1) (MAGE-D2 antigen)

 MAGD2_HUMAN             Reviewed;         606 AA.
Q9UNF1; A6NMX0; O76058; Q5BJF3; Q8NAL6; Q9H218; Q9P0U9; Q9UM52;
26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
26-SEP-2001, sequence version 2.
23-MAY-2018, entry version 155.
RecName: Full=Melanoma-associated antigen D2;
AltName: Full=11B6;
AltName: Full=Breast cancer-associated gene 1 protein;
Short=BCG-1;
AltName: Full=Hepatocellular carcinoma-associated protein JCL-1;
AltName: Full=MAGE-D2 antigen;
Name=MAGED2; Synonyms=BCG1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ARG-266.
TISSUE=Fetal lung, Mammary cancer, and Mammary gland;
PubMed=10752678; DOI=10.1023/A:1006315919985;
Kurt R.A., Urba W.J., Schoof D.D.;
"Isolation of genes overexpressed in freshly isolated breast cancer
specimens.";
Breast Cancer Res. Treat. 59:41-48(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=11856887;
Langnaese K., Kloos D.U., Wehnert M., Seidel B., Wieacker P.;
"Expression pattern and further characterization of human MAGED2 and
identification of rodent orthologues.";
Cytogenet. Cell Genet. 94:233-240(2001).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Jin C.L., Wang D.Y., Wan D.F., Gu J.R.;
"Hepatocellular carcinoma associated gene JCL-1.";
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE (ISOFORM 1).
Dong X.-Y., Chen W.-F.;
"Identification of genes which are differentially expressed in
hepatocellular carcinoma by SSH method.";
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung, and Skeletal muscle;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
PROTEIN SEQUENCE OF 2-13; 77-100; 182-203; 220-227; 262-274; 312-323;
386-397 AND 431-446, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT
SER-2, AND IDENTIFICATION BY MASS SPECTROMETRY.
TISSUE=Embryonic kidney;
Bienvenut W.V., Waridel P., Quadroni M.;
Submitted (MAR-2009) to UniProtKB.
[10]
NUCLEOTIDE SEQUENCE OF 346-424.
TISSUE=Prostatic carcinoma;
Stubbs A.P., Abel P.D., Lalani E.-N., Stamp G.W.H.;
"Isolation of genes which are differentially expressed in prostate
cancer cells.";
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
[11]
NUCLEOTIDE SEQUENCE OF 369-503.
TISSUE=Testis;
PubMed=10463614;
Lucas S., Brasseur F., Boon T.;
"A new MAGE gene with ubiquitous expression does not code for known
MAGE antigens recognized by T cells.";
Cancer Res. 59:4100-4103(1999).
[12]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in
signaling networks.";
Cell 127:635-648(2006).
[13]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=17924679; DOI=10.1021/pr070152u;
Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.;
"Improved titanium dioxide enrichment of phosphopeptides from HeLa
cells and high confident phosphopeptide identification by cross-
validation of MS/MS and MS/MS/MS spectra.";
J. Proteome Res. 6:4150-4162(2007).
[14]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-190; SER-191 AND
SER-194, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
TISSUE=Embryonic kidney;
PubMed=17525332; DOI=10.1126/science.1140321;
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,
Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,
Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
"ATM and ATR substrate analysis reveals extensive protein networks
responsive to DNA damage.";
Science 316:1160-1166(2007).
[15]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-194, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Platelet;
PubMed=18088087; DOI=10.1021/pr0704130;
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,
Schuetz C., Walter U., Gambaryan S., Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
[16]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
Greff Z., Keri G., Stemmann O., Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of
the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
[17]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-157; SER-190; SER-191;
SER-194; SER-197; SER-247 AND SER-265, AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[18]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=19413330; DOI=10.1021/ac9004309;
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
Mohammed S.;
"Lys-N and trypsin cover complementary parts of the phosphoproteome in
a refined SCX-based approach.";
Anal. Chem. 81:4493-4501(2009).
[19]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
Mann M., Daub H.;
"Large-scale proteomics analysis of the human kinome.";
Mol. Cell. Proteomics 8:1751-1764(2009).
[20]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, PHOSPHORYLATION [LARGE
SCALE ANALYSIS] AT SER-5; THR-72; SER-191; SER-244; SER-247 AND
SER-265, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
Mann M.;
"Quantitative phosphoproteomics reveals widespread full
phosphorylation site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
[21]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[22]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, PHOSPHORYLATION [LARGE
SCALE ANALYSIS] AT SER-247, CLEAVAGE OF INITIATOR METHIONINE [LARGE
SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
PubMed=21406692; DOI=10.1126/scisignal.2001570;
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
Blagoev B.;
"System-wide temporal characterization of the proteome and
phosphoproteome of human embryonic stem cell differentiation.";
Sci. Signal. 4:RS3-RS3(2011).
[23]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=22223895; DOI=10.1074/mcp.M111.015131;
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C.,
Meinnel T., Giglione C.;
"Comparative large-scale characterisation of plant vs. mammal proteins
reveals similar and idiosyncratic N-alpha acetylation features.";
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
[24]
ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=22814378; DOI=10.1073/pnas.1210303109;
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
Aldabe R.;
"N-terminal acetylome analyses and functional insights of the N-
terminal acetyltransferase NatB.";
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
[25]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247; SER-264 AND
SER-265, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
TISSUE=Cervix carcinoma, and Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[26]
FUNCTION, INTERACTION WITH GNAS AND DNAJB1, TISSUE SPECIFICITY,
INVOLVEMENT IN BARTS5, VARIANTS BARTS5 CYS-446 AND 488-GLU--ALA-491
DEL, AND CHARACTERIZATION OF VARIANT BARTS5 CYS-446.
PubMed=27120771; DOI=10.1056/NEJMoa1507629;
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B.,
Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H.,
Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J.,
Nuernberg P., Benzing T., Levtchenko E., Seyberth H.W., Klaus G.,
Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A.,
Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O.,
Konrad M., Koemhoff M.;
"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2
mutations.";
N. Engl. J. Med. 374:1853-1863(2016).
[27]
VARIANT [LARGE SCALE ANALYSIS] GLN-458.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Regulates the expression, localization to the plasma
membrane and function of the sodium chloride cotransporters
SLC12A1 and SLC12A3, two key components of salt reabsorption in
the distal renal tubule. {ECO:0000269|PubMed:27120771}.
-!- SUBUNIT: Interacts with GNAS. May interact with DNAJB1.
{ECO:0000269|PubMed:27120771}.
-!- INTERACTION:
P52333:JAK3; NbExp=3; IntAct=EBI-725832, EBI-518246;
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9UNF1-1; Sequence=Displayed;
Name=2;
IsoId=Q9UNF1-2; Sequence=VSP_008030;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Widely expressed. In the developing and adult
kidney, expressed in the thick ascending limb of the loop of Henle
and the distal convoluted tubules outside the loop.
{ECO:0000269|PubMed:11856887, ECO:0000269|PubMed:27120771}.
-!- DISEASE: Bartter syndrome 5, antenatal, transient (BARTS5)
[MIM:300971]: An X-linked recessive form of Bartter syndrome, a
disorder characterized by impaired salt reabsorption in the thick
ascending loop of Henle with pronounced salt wasting, hypokalemic
metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5
is an antenatal form beginning in utero with marked fetal polyuria
that leads to polyhydramnios and premature delivery. It is
characterized by severe but transient symptoms that can resolve
with age. {ECO:0000269|PubMed:27120771}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
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EMBL; AF128527; AAD33392.1; -; mRNA.
EMBL; AF128528; AAD33393.1; -; mRNA.
EMBL; AF126181; AAD28598.1; -; mRNA.
EMBL; AJ293618; CAC19410.1; -; mRNA.
EMBL; U92544; AAD00728.1; -; mRNA.
EMBL; AF320070; AAG35066.2; -; mRNA.
EMBL; AK092463; BAC03896.1; -; mRNA.
EMBL; Z98046; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471154; EAW93189.1; -; Genomic_DNA.
EMBL; BC000304; AAH00304.1; -; mRNA.
EMBL; BC091503; AAH91503.1; -; mRNA.
EMBL; AF148815; AAF73137.1; -; mRNA.
EMBL; AF320907; AAG38603.1; -; mRNA.
CCDS; CCDS14362.1; -. [Q9UNF1-1]
RefSeq; NP_055414.2; NM_014599.5. [Q9UNF1-1]
RefSeq; NP_803182.1; NM_177433.2. [Q9UNF1-1]
RefSeq; NP_957516.1; NM_201222.2. [Q9UNF1-1]
UniGene; Hs.522665; -.
ProteinModelPortal; Q9UNF1; -.
SMR; Q9UNF1; -.
BioGrid; 116121; 90.
DIP; DIP-50722N; -.
IntAct; Q9UNF1; 37.
MINT; Q9UNF1; -.
STRING; 9606.ENSP00000218439; -.
iPTMnet; Q9UNF1; -.
PhosphoSitePlus; Q9UNF1; -.
BioMuta; MAGED2; -.
DMDM; 17380153; -.
EPD; Q9UNF1; -.
PaxDb; Q9UNF1; -.
PeptideAtlas; Q9UNF1; -.
PRIDE; Q9UNF1; -.
DNASU; 10916; -.
Ensembl; ENST00000218439; ENSP00000218439; ENSG00000102316. [Q9UNF1-1]
Ensembl; ENST00000375053; ENSP00000364193; ENSG00000102316. [Q9UNF1-1]
Ensembl; ENST00000375058; ENSP00000364198; ENSG00000102316. [Q9UNF1-1]
Ensembl; ENST00000375068; ENSP00000364209; ENSG00000102316. [Q9UNF1-1]
Ensembl; ENST00000396224; ENSP00000379526; ENSG00000102316. [Q9UNF1-1]
GeneID; 10916; -.
KEGG; hsa:10916; -.
UCSC; uc004dtk.3; human. [Q9UNF1-1]
CTD; 10916; -.
DisGeNET; 10916; -.
EuPathDB; HostDB:ENSG00000102316.16; -.
GeneCards; MAGED2; -.
HGNC; HGNC:16353; MAGED2.
HPA; HPA031572; -.
HPA; HPA031573; -.
MalaCards; MAGED2; -.
MIM; 300470; gene.
MIM; 300971; phenotype.
neXtProt; NX_Q9UNF1; -.
OpenTargets; ENSG00000102316; -.
PharmGKB; PA30560; -.
eggNOG; KOG4562; Eukaryota.
eggNOG; ENOG4111S70; LUCA.
GeneTree; ENSGT00760000118824; -.
HOVERGEN; HBG003714; -.
InParanoid; Q9UNF1; -.
OMA; WDEADIG; -.
OrthoDB; EOG091G09D3; -.
PhylomeDB; Q9UNF1; -.
TreeFam; TF352132; -.
Reactome; R-HSA-114608; Platelet degranulation.
ChiTaRS; MAGED2; human.
GeneWiki; MAGED2; -.
GenomeRNAi; 10916; -.
PRO; PR:Q9UNF1; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000102316; -.
CleanEx; HS_MAGED2; -.
ExpressionAtlas; Q9UNF1; baseline and differential.
Genevisible; Q9UNF1; HS.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0016020; C:membrane; HDA:UniProtKB.
GO; GO:0005730; C:nucleolus; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:HPA.
GO; GO:0031093; C:platelet alpha granule lumen; TAS:Reactome.
GO; GO:0007565; P:female pregnancy; IMP:UniProtKB.
GO; GO:0002576; P:platelet degranulation; TAS:Reactome.
GO; GO:0070294; P:renal sodium ion absorption; IMP:UniProtKB.
InterPro; IPR037445; MAGE.
InterPro; IPR028810; MAGED2.
InterPro; IPR002190; MHD_dom.
PANTHER; PTHR11736; PTHR11736; 1.
PANTHER; PTHR11736:SF11; PTHR11736:SF11; 1.
Pfam; PF01454; MAGE; 1.
SMART; SM01373; MAGE; 1.
PROSITE; PS50838; MAGE; 1.
1: Evidence at protein level;
Acetylation; Alternative splicing; Bartter syndrome;
Complete proteome; Direct protein sequencing; Disease mutation;
Phosphoprotein; Polymorphism; Reference proteome; Tumor antigen.
INIT_MET 1 1 Removed. {ECO:0000244|PubMed:19413330,
ECO:0000244|PubMed:20068231,
ECO:0000244|PubMed:21406692,
ECO:0000244|PubMed:22223895,
ECO:0000244|PubMed:22814378,
ECO:0000269|Ref.9}.
CHAIN 2 606 Melanoma-associated antigen D2.
/FTId=PRO_0000156727.
DOMAIN 279 478 MAGE. {ECO:0000255|PROSITE-
ProRule:PRU00127}.
COMPBIAS 215 258 Arg-rich.
MOD_RES 2 2 N-acetylserine.
{ECO:0000244|PubMed:19413330,
ECO:0000244|PubMed:20068231,
ECO:0000244|PubMed:21406692,
ECO:0000244|PubMed:22223895,
ECO:0000244|PubMed:22814378,
ECO:0000269|Ref.9}.
MOD_RES 5 5 Phosphoserine.
{ECO:0000244|PubMed:20068231}.
MOD_RES 72 72 Phosphothreonine.
{ECO:0000244|PubMed:20068231}.
MOD_RES 157 157 Phosphoserine.
{ECO:0000244|PubMed:18669648}.
MOD_RES 190 190 Phosphoserine.
{ECO:0000244|PubMed:17525332,
ECO:0000244|PubMed:18669648}.
MOD_RES 191 191 Phosphoserine.
{ECO:0000244|PubMed:17525332,
ECO:0000244|PubMed:18669648,
ECO:0000244|PubMed:20068231}.
MOD_RES 194 194 Phosphoserine.
{ECO:0000244|PubMed:17525332,
ECO:0000244|PubMed:18088087,
ECO:0000244|PubMed:18669648}.
MOD_RES 197 197 Phosphoserine.
{ECO:0000244|PubMed:18669648}.
MOD_RES 244 244 Phosphoserine.
{ECO:0000244|PubMed:20068231}.
MOD_RES 247 247 Phosphoserine.
{ECO:0000244|PubMed:17081983,
ECO:0000244|PubMed:17924679,
ECO:0000244|PubMed:18669648,
ECO:0000244|PubMed:18691976,
ECO:0000244|PubMed:19369195,
ECO:0000244|PubMed:20068231,
ECO:0000244|PubMed:21406692,
ECO:0000244|PubMed:23186163}.
MOD_RES 264 264 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 265 265 Phosphoserine.
{ECO:0000244|PubMed:18669648,
ECO:0000244|PubMed:20068231,
ECO:0000244|PubMed:23186163}.
VAR_SEQ 45 62 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_008030.
VARIANT 187 187 E -> D (in dbSNP:rs12014977).
/FTId=VAR_053508.
VARIANT 266 266 Q -> R (in dbSNP:rs1021000890).
{ECO:0000269|PubMed:10752678}.
/FTId=VAR_011639.
VARIANT 446 446 R -> C (in BARTS5; loss of interaction
with GNAS; dbSNP:rs878854407).
{ECO:0000269|PubMed:27120771}.
/FTId=VAR_076836.
VARIANT 458 458 K -> Q (in a breast cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036584.
VARIANT 488 491 Missing (in BARTS5).
{ECO:0000269|PubMed:27120771}.
/FTId=VAR_076837.
CONFLICT 73 73 P -> S (in Ref. 3; AAD00728).
{ECO:0000305}.
CONFLICT 377 377 S -> C (in Ref. 5; BAC03896).
{ECO:0000305}.
SEQUENCE 606 AA; 64954 MW; 352FD5BAF5088652 CRC64;
MSDTSESGAG LTRFQAEASE KDSSSMMQTL LTVTQNVEVP ETPKASKALE VSEDVKVSKA
SGVSKATEVS KTPEAREAPA TQASSTTQLT DTQVLAAENK SLAADTKKQN ADPQAVTMPA
TETKKVSHVA DTKVNTKAQE TEAAPSQAPA DEPEPESAAA QSQENQDTRP KVKAKKARKV
KHLDGEEDGS SDQSQASGTT GGRRVSKALM ASMARRASRG PIAFWARRAS RTRLAAWARR
ALLSLRSPKA RRGKARRRAA KLQSSQEPEA PPPRDVALLQ GRANDLVKYL LAKDQTKIPI
KRSDMLKDII KEYTDVYPEI IERAGYSLEK VFGIQLKEID KNDHLYILLS TLEPTDAGIL
GTTKDSPKLG LLMVLLSIIF MNGNRSSEAV IWEVLRKLGL RPGIHHSLFG DVKKLITDEF
VKQKYLDYAR VPNSNPPEYE FFWGLRSYYE TSKMKVLKFA CKVQKKDPKE WAAQYREAME
ADLKAAAEAA AEAKARAEIR ARMGIGLGSE NAAGPCNWDE ADIGPWAKAR IQAGAEAKAK
AQESGSASTG ASTSTNNSAS ASASTSGGFS AGASLTATLT FGLFAGLGGA GASTSGSSGA
CGFSYK


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