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Details on Person UniProt:Q9UBW7 ZMYM2
| Class:Id | ReferenceGeneProduct:67910 |
|---|---|
| _chainChangeLog | chain:1-1377 added on Fri February 6 2015 |
| _displayName | UniProt:Q9UBW7 ZMYM2 |
| _timestamp | 2024-11-03 20:22:26 |
| chain | chain:1-1377 |
| checksum | 2652D4C766492FF9 |
| comment | FUNCTION Involved in the negative regulation of transcription.SUBUNIT Can form homodimers (PubMed:32891193). May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with FOXP1 and FOXP2 (PubMed:32891193).INTERACTION The disease is caused by variants affecting the gene represented in this entry.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. |
| description | recommendedName: Zinc finger MYM-type protein 2 alternativeName: Fused in myeloproliferative disorders protein alternativeName: Rearranged in atypical myeloproliferative disorder protein alternativeName: Zinc finger protein 198 |
| geneName | ZMYM2 FIM RAMP ZNF198 |
| identifier | Q9UBW7 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Chromosomal rearrangement Disease variant Intellectual disability Isopeptide bond Metal-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Transcription Transcription regulation Ubl conjugation Zinc Zinc-finger |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | ZMYM2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9005069] ENSEMBL:ENSG00000121741 ZMYM2 [Homo sapiens] |
| secondaryIdentifier | ZMYM2_HUMAN A6NDG0 A6NI02 O43212 O43434 O60898 Q5W0Q4 Q5W0T3 Q63HP0 Q8NE39 Q9H0V5 Q9H538 Q9UEU2 |
| sequenceLength | 1377 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8973137] UniProt:Q9UBW7-1 ZMYM2 [Homo sapiens] [ReferenceIsoform:8973138] UniProt:Q9UBW7-2 ZMYM2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:1604544] ZMYM2(1-913)-FGFR1(429-822) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:1839016] ZMYM2(1-913)-p-FGFR1(429-822) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703309] ZMYM2(1-1059)-p-4Y-FLT3(594-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703310] ZMYM2(1-1059)-FLT3(594-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703311] ZMYM2(1-1057)-FLT3(586-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703319] ZMYM2(1-1057)-p-5Y-FLT3(586-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9930820] ZMYM2 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9UBW7 ZMYM2 (67910)
