Q8NDY4 (MDS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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.
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	Note=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
Technical term	Complete proteome Reference proteome
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 [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
EMBL GenBank DDBJ	AJ310434 mRNA. Translation: CAD27416.1. AL451000 Genomic DNA. Translation: CAH71470.1.
IPI	IPI00168621.
UniGene	Hs.523369.
3D structure databases
ProteinModelPortal	Q8NDY4.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NDY4.
Polymorphism databases
DMDM	74751237.
Proteomic databases
PRIDE	Q8NDY4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374555; ENSP00000363683; ENSG00000197880.
Organism-specific databases
GeneCards	GC01P023907.
H-InvDB	HIX0028629.
HGNC	HGNC:29633. MDS2.
MIM	607305. gene.
neXtProt	NX_Q8NDY4.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000000704.
InParanoid	Q8NDY4.
OMA	PCEDPAR.
OrthoDB	EOG4PRSS0.
Gene expression databases
ArrayExpress	Q8NDY4.
Bgee	Q8NDY4.
CleanEx	HS_MDS2.
Genevestigator	Q8NDY4.
GermOnline	ENSG00000197880. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
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:	January 25, 2012
This is version 47 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.