ID   MDS2_HUMAN              Reviewed;         140 AA.
AC   Q8NDY4;
DT   17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   03-AUG-2022, entry version 103.
DE   RecName: Full=Myelodysplastic syndrome 2 translocation-associated protein;
GN   Name=MDS2;
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 [MRNA], TISSUE SPECIFICITY, AND CHROMOSOMAL
RP   TRANSLOCATION WITH ETV6.
RX   PubMed=12203785; DOI=10.1002/gcc.10090;
RA   Odero M.D., Vizmanos J.L., Roman J.P., Lahortiga I., Panizo C.,
RA   Calasanz M.J., Zeleznik-Le N.J., Rowley J.D., Novo F.J.;
RT   "A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a
RT   patient with myelodysplastic syndrome.";
RL   Genes Chromosomes Cancer 35:11-19(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
CC   -!- TISSUE SPECIFICITY: Highly expressed in peripheral blood leukocytes,
CC       spleen, thymus, kidney, pancreas and lung.
CC       {ECO:0000269|PubMed:12203785}.
CC   -!- DISEASE: Note=A chromosomal aberration involving MDS2 is a cause of
CC       myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with
CC       ETV6. {ECO:0000269|PubMed:12203785}.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC       Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/MDS2ID476.html";
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DR   EMBL; AJ310434; CAD27416.1; -; mRNA.
DR   EMBL; AL451000; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001335004.1; NM_001348075.1.
DR   AlphaFoldDB; Q8NDY4; -.
DR   STRING; 9606.ENSP00000363683; -.
DR   BioMuta; MDS2; -.
DR   DMDM; 74751237; -.
DR   PaxDb; Q8NDY4; -.
DR   PRIDE; Q8NDY4; -.
DR   ProteomicsDB; 73091; -.
DR   DNASU; 259283; -.
DR   GeneID; 259283; -.
DR   UCSC; uc057dgf.1; human.
DR   CTD; 259283; -.
DR   DisGeNET; 259283; -.
DR   GeneCards; MDS2; -.
DR   HGNC; HGNC:29633; MDS2.
DR   MIM; 607305; gene.
DR   neXtProt; NX_Q8NDY4; -.
DR   eggNOG; ENOG502TM2Y; Eukaryota.
DR   HOGENOM; CLU_1834480_0_0_1; -.
DR   InParanoid; Q8NDY4; -.
DR   OrthoDB; 1377081at2759; -.
DR   PhylomeDB; Q8NDY4; -.
DR   PathwayCommons; Q8NDY4; -.
DR   SignaLink; Q8NDY4; -.
DR   BioGRID-ORCS; 259283; 5 hits in 106 CRISPR screens.
DR   ChiTaRS; MDS2; human.
DR   Pharos; Q8NDY4; Tdark.
DR   PRO; PR:Q8NDY4; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q8NDY4; protein.
DR   Genevisible; Q8NDY4; HS.
DR   GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
PE   2: Evidence at transcript level;
KW   Chromosomal rearrangement; Proto-oncogene; Reference proteome.
FT   CHAIN           1..140
FT                   /note="Myelodysplastic syndrome 2 translocation-associated
FT                   protein"
FT                   /id="PRO_0000252477"
SQ   SEQUENCE   140 AA;  15384 MW;  839BC22233659334 CRC64;
     MLQAADFIER TETAGELSRG LIGVLSSQIS WCLLNVNLSK LPTRLQRLSC SVLNSSPAMR
     GGARGRPQLT LERPLRPGCR LHSCSEAEKG GFVRRKEIIL FPPCEDPARG WLSANPGREP
     SPGICWHLNL GLPSLHNCEE