Reviewed,
UniProtKB/Swiss-Prot Q9UBW7 (ZMYM2_HUMAN)
Last modified
November 3, 2009.
Version 84.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Zinc finger MYM-type protein 2 Alternative name(s): Zinc finger protein 198 Fused in myeloproliferative disorders protein Rearranged in atypical myeloproliferative disorder protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1377 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May function as a transcription factor. |
| Subunit structure | May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, AOF2/LSD1, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. |
| Subcellular location | Nucleus Potential. |
| Involvement in disease | A chromosomal aberration involving ZMYM2 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with FGFR1. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow. |
| Sequence similarities | Contains 9 MYM-type zinc fingers. |
| Sequence caution | The sequence AAB88464.1 differs from that shown. Reason: Frameshift at positions 330, 966, 1009 and 1017. The sequence AAC23591.1 differs from that shown. Reason: Frameshift at position 330. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Chromosomal rearrangement |
| Domain | Repeat Zinc-finger |
| Ligand | Metal-binding Zinc |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | PML body Inferred from direct assay. Source: UniProtKB |
| Molecular function | ubiquitin conjugating enzyme binding Inferred from physical interaction. Source: UniProtKB zinc ion binding Ref.1Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1377 | 1377 | Zinc finger MYM-type protein 2 | PRO_0000191382 | |||||
Regions | |||||||||
| Zinc finger | 352 – 386 | 35 | MYM-type 1 | ||||||
| Zinc finger | 398 – 436 | 39 | MYM-type 2 | ||||||
| Zinc finger | 445 – 480 | 36 | MYM-type 3 | ||||||
| Zinc finger | 491 – 549 | 59 | MYM-type 4 | ||||||
| Zinc finger | 559 – 597 | 39 | MYM-type 5 | ||||||
| Zinc finger | 605 – 652 | 48 | MYM-type 6 | ||||||
| Zinc finger | 660 – 694 | 35 | MYM-type 7 | ||||||
| Zinc finger | 701 – 740 | 40 | MYM-type 8 | ||||||
| Zinc finger | 747 – 781 | 35 | MYM-type 9 | ||||||
Sites | |||||||||
| Site | 913 – 914 | 2 | Breakpoint for translocation to form ZMYM2-FGFR1 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 305 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 362 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 838 | 1 | Phosphoserine Ref.12 Ref.14 | ||||||
| Modified residue | 1376 | 1 | Phosphothreonine Ref.14 | ||||||
Experimental info | |||||||||
| Sequence conflict | 102 | 1 | S → P in CAH56193. Ref.4 | ||||||
| Sequence conflict | 110 | 1 | K → E in AAH36372. Ref.7 | ||||||
| Sequence conflict | 388 – 416 | 29 | VAQVD…KQNPT → GWLKWIQVSPSRNSVVTSCL ISLMKNNRILL in CAA73875. Ref.1 | ||||||
| Sequence conflict | 657 – 659 | 3 | NKV → ASL in CAH70133. Ref.5 | ||||||
| Sequence conflict | 657 – 659 | 3 | NKV → ASL in CAH71822. Ref.5 | ||||||
| Sequence conflict | 736 | 1 | K → G in CAA73875. Ref.1 | ||||||
| Sequence conflict | 766 – 767 | 2 | Missing in CAH70133. Ref.5 | ||||||
| Sequence conflict | 766 – 767 | 2 | Missing in CAH71822. Ref.5 | ||||||
| Sequence conflict | 856 | 1 | T → I in AAH36372. Ref.7 | ||||||
| Sequence conflict | 967 | 1 | Missing in AAB88464. Ref.9 | ||||||
| Sequence conflict | 1009 – 1010 | 2 | DF → IS in AAB88464. Ref.9 | ||||||
| Sequence conflict | 1016 | 1 | Missing in AAB88464. Ref.9 | ||||||
| Sequence conflict | 1259 | 1 | C → R in AAH36372. Ref.7 | ||||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12)." Popovici C., Adelaide J., Ollendorff V., Chaffanet M., Guasch G., Jacrot M., Leroux D., Birnbaum D., Pebusque M.-J. Proc. Natl. Acad. Sci. U.S.A. 95:5712-5717(1998) [PubMed: 9576949] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome." Reiter A., Sohal J., Kulkarni S., Chase A., Macdonald D.H.C., Aguiar R.C.T., Goncalves C., Hernandez J.M., Jennings B.A., Goldman J.M., Cross N.C.P. Blood 92:1735-1742(1998) [PubMed: 9716603] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome." Kulkarni S., Reiter A.J., Smedley D., Goldman J.M., Cross N.C.P. Genomics 55:118-121(1999) [PubMed: 9889006] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Endometrial tumor. |
| [5] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | 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. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis. |
| [8] | "The t(8;13) atypical myeloproliferative disorder: further analysis of the ZNF198 gene and lack of evidence for multiple genes disrupted on chromosome 13." Still I.H., Cowell J.K. Blood 92:1456-1458(1998) [PubMed: 9694738] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 152-1377. |
| [9] | "The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP." Smedley D., Hamoudi R., Clark J., Warren W., Abdul-Rauf M., Somers G., Venter D., Fagan K., Cooper C., Shipley J. Hum. Mol. Genet. 7:637-642(1998) [PubMed: 9499416] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 170-1020. |
| [10] | "FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome." Xiao S., Nalabolu S.R., Aster J.C., Ma J., Abruzzo L., Jaffe E.S., Stone R., Weissman S.M., Hudson T.J., Fletcher J.A. Nat. Genet. 18:84-87(1998) [PubMed: 9425908] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 621-1377. |
| [11] | "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes." Hakimi M.-A., Dong Y., Lane W.S., Speicher D.W., Shiekhattar R. J. Biol. Chem. 278:7234-7239(2003) [PubMed: 12493763] [Abstract] Cited for: IDENTIFICATION IN THE BHC COMPLEX WITH HDAC1; HDAC2; HMG20B; AOF2; RCOR1; PHF21A; ZNF217; ZMYM3; KIAA0182 AND GTF2I. |
| [12] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-362 AND SER-838, MASS SPECTROMETRY. Tissue: Epithelium. |
| [13] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-305, MASS SPECTROMETRY. Tissue: Epithelium. |
| [14] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-838 AND THR-1376, MASS SPECTROMETRY. |
| [15] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| Y13472 mRNA. Translation: CAA73875.1. AJ224901 mRNA. Translation: CAA12204.1. AJ007676 AJ007696 Genomic DNA. Translation: CAA07604.1. BX647944 mRNA. Translation: CAH56193.1. AL137119, AL138688 Genomic DNA. Translation: CAH70133.1. AL138688, AL137119 Genomic DNA. Translation: CAH71822.1. CH471075 Genomic DNA. Translation: EAX08244.1. BC036372 mRNA. Translation: AAH36372.1. AF060181 mRNA. Translation: AAC23591.1. Frameshift. AF035374 mRNA. Translation: AAB88464.1. Frameshift. AF012126 mRNA. Translation: AAC01561.1. | |
| IPI | IPI00294603. |
| PIR | T45119. |
| RefSeq | NP_003444.1. NP_932072.1. |
| UniGene | Hs.644041 |
3D structure databases | |
| SMR | Q9UBW7. Positions 316-360. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9UBW7. |
PTM databases | |
| PhosphoSite | Q9UBW7. |
Proteomic databases | |
| PRIDE | Q9UBW7. |
Genome annotation databases | |
| Ensembl | ENST00000382869; ENSP00000372322; ENSG00000121741; Homo sapiens. [Genome view] ENST00000382870; ENSP00000372323; ENSG00000121741; Homo sapiens. [Genome view] ENST00000382871; ENSP00000372324; ENSG00000121741; Homo sapiens. [Genome view] ENST00000382874; ENSP00000372327; ENSG00000121741; Homo sapiens. [Genome view] ENST00000382881; ENSP00000372334; ENSG00000121741; Homo sapiens. [Genome view] ENST00000382883; ENSP00000372336; ENSG00000121741; Homo sapiens. [Genome view] ENST00000418722; ENSP00000401434; ENSG00000121741; Homo sapiens. [Genome view] ENST00000456228; ENSP00000413744; ENSG00000121741; Homo sapiens. [Genome view] |
| GeneID | 7750. |
| KEGG | hsa:7750. |
| UCSC | uc001umr.1. human. |
Organism-specific databases | |
| CTD | 7750. |
| GeneCards | GC13P019431. |
| HGNC | HGNC:12989. ZMYM2. |
| MIM | 602221. gene. |
| Orphanet | 86832. Adult myelodysplastic/myeloproliferative disease. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9UBW7. |
| OMA | FLMQPEK. |
Gene expression databases | |
| ArrayExpress | Q9UBW7. |
| Bgee | Q9UBW7. |
| Genevestigator | Q9UBW7. |
| GermOnline | ENSG00000121741. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011017. TRASH. IPR010507. Znf_MYM. [Graphical view] |
| Pfam | PF06467. zf-FCS. 10 hits. [Graphical view] |
| SMART | SM00746. TRASH. 9 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 29992. |
| SOURCE | Search... |
Entry information
| Entry name | ZMYM2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UBW7 Secondary accession number(s): A6NDG0 Q9UEU2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


