Reviewed, UniProtKB/Swiss-Prot Q8NDY4 (MDS2_HUMAN)

Names and origin

Protein names

Recommended name:
    Myelodysplastic syndrome 2 translocation-associated protein

Gene names

Name:

MDS2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	140 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Tissue specificity	Highly expressed in peripheral blood leukocytes, spleen, thymus, kidney, pancreas and lung. Ref.1
Involvement in disease	A chromosomal aberration involving MDS2 is a cause of myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with ETV6.

Ontologies

Keywords
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 140	140	Myelodysplastic syndrome 2 translocation-associated protein		PRO_0000252477

Sequences

	Sequence		Length	Mass (Da)
	Q8NDY4-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 839BC22233659334	FASTA	140	15,384
	10 20 30 40 50 60 MLQAADFIER TETAGELSRG LIGVLSSQIS WCLLNVNLSK LPTRLQRLSC SVLNSSPAMR 70 80 90 100 110 120 GGARGRPQLT LERPLRPGCR LHSCSEAEKG GFVRRKEIIL FPPCEDPARG WLSANPGREP 130 140 SPGICWHLNL GLPSLHNCEE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome." Odero M.D., Vizmanos J.L., Roman J.P., Lahortiga I., Panizo C., Calasanz M.J., Zeleznik-Le N.J., Rowley J.D., Novo F.J. Genes Chromosomes Cancer 35:11-19(2002) [PubMed: 12203785] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH ETV6.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ310434 mRNA. Translation: CAD27416.1. AL451000 Genomic DNA. Translation: CAH71470.1.
IPI	IPI00168621.
UniGene	Hs.523369
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q8NDY4.
Genome annotation databases
Ensembl	ENSG00000197880. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC01P023826. GC01U990489.
HGNC	HGNC:29633. MDS2.
MIM	607305. gene.
PharmGKB	PA142671475.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8NDY4.
OMA	Q8NDY4. CEDPARG.
Gene expression databases
ArrayExpress	Q8NDY4.
Bgee	Q8NDY4.
CleanEx	HS_MDS2.
GermOnline	ENSG00000197880. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

MDS2_HUMAN

Accession

Primary (citable) accession number: Q8NDY4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	October 1, 2002
Last modified:	May 5, 2009
This is version 29 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)