Human Gene ZMYM2 (ENST00000610343.5) from GENCODE V44
  Description: Homo sapiens zinc finger MYM-type containing 2 (ZMYM2), transcript variant 7, non-coding RNA. (from RefSeq NR_148365)
RefSeq Summary (NM_197968): The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. Sequence Note:.
Gencode Transcript: ENST00000610343.5
Gencode Gene: ENSG00000121741.17
Transcript (Including UTRs)
   Position: hg38 chr13:19,958,727-20,089,115 Size: 130,389 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg38 chr13:19,993,073-20,086,014 Size: 92,942 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:19,958,727-20,089,115)mRNA (may differ from genome)Protein (1377 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZMYM2_HUMAN
DESCRIPTION: RecName: Full=Zinc finger MYM-type protein 2; AltName: Full=Fused in myeloproliferative disorders protein; AltName: Full=Rearranged in atypical myeloproliferative disorder protein; AltName: Full=Zinc finger protein 198;
FUNCTION: May function as a transcription factor.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus (Potential).
DISEASE: Note=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.
SIMILARITY: Contains 9 MYM-type zinc fingers.
SEQUENCE CAUTION: Sequence=AAB88464.1; Type=Frameshift; Positions=330, 966, 1009, 1017; Sequence=AAC23591.1; Type=Frameshift; Positions=330; Sequence=CAA73875.1; Type=Frameshift; Positions=388, 403, 406, 409, 418;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ZNF198ID114.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZMYM2
Diseases sorted by gene-association score: lymphoblastic lymphoma (34), 8p11 myeloproliferative syndrome (13), myasthenic syndrome, congenital, 6, presynaptic (12), bone marrow cancer (9), lymphoma (7), congenital myasthenic syndrome (1), leukemia, acute myeloid (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.30194-0.398 Picture PostScript Text
3' UTR -729.503101-0.235 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021893 - DUF3504
IPR011017 - TRASH
IPR010507 - Znf_MYM

Pfam Domains:
PF12012 - Domain of unknown function (DUF3504)
PF06467 - MYM-type Zinc finger with FCS sequence motif

ModBase Predicted Comparative 3D Structure on Q9UBW7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0004713 protein tyrosine kinase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0031624 ubiquitin conjugating enzyme binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007010 cytoskeleton organization
GO:0007275 multicellular organism development
GO:0008150 biological_process
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0022604 regulation of cell morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016605 PML body


-  Descriptions from all associated GenBank mRNAs
  BC036372 - Homo sapiens zinc finger, MYM-type 2, mRNA (cDNA clone MGC:26461 IMAGE:4823008), complete cds.
Y13472 - Homo sapiens mRNA for FIM protein.
AK289741 - Homo sapiens cDNA FLJ76647 partial cds, highly similar to Homo sapiens zinc finger protein 198 (ZNF198), mRNA.
AK226118 - Homo sapiens mRNA for zinc finger protein 198 variant, clone: hj06248.
AJ224901 - Homo sapiens mRNA for ZNF198 protein.
BX647944 - Homo sapiens mRNA; cDNA DKFZp686C0251 (from clone DKFZp686C0251).
AM393534 - Synthetic construct Homo sapiens clone IMAGE:100002477 for hypothetical protein (ZMYM2 gene).
AM393611 - Synthetic construct Homo sapiens clone IMAGE:100002501 for hypothetical protein (ZMYM2 gene).
AF060181 - Homo sapiens zinc finger protein (ZNF198) mRNA, complete cds.
AF035374 - Homo sapiens Cys-rich protein (RAMP) mRNA, complete cds.
AK302917 - Homo sapiens cDNA FLJ50310 complete cds, highly similar to Zinc finger protein 198.
BX648905 - Homo sapiens mRNA; cDNA DKFZp686L0129 (from clone DKFZp686L0129).
AF012126 - Homo sapiens zinc finger protein (ZNF198) mRNA, complete cds.
AL136621 - Homo sapiens mRNA; cDNA DKFZp564B162 (from clone DKFZp564B162).
AK310505 - Homo sapiens cDNA, FLJ17547.
EU831724 - Synthetic construct Homo sapiens clone HAIB:100066753; DKFZo003F0220 zinc finger, MYM-type 2 protein (ZMYM2) gene, encodes complete protein.
EU831640 - Synthetic construct Homo sapiens clone HAIB:100066669; DKFZo007F0219 zinc finger, MYM-type 2 protein (ZMYM2) gene, encodes complete protein.
JD529978 - Sequence 511002 from Patent EP1572962.
JD553455 - Sequence 534479 from Patent EP1572962.
JD082082 - Sequence 63106 from Patent EP1572962.
JD280635 - Sequence 261659 from Patent EP1572962.
JD239703 - Sequence 220727 from Patent EP1572962.
JD358296 - Sequence 339320 from Patent EP1572962.
JD552091 - Sequence 533115 from Patent EP1572962.
JD053083 - Sequence 34107 from Patent EP1572962.
JD232286 - Sequence 213310 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBW7 (Reactome details) participates in the following event(s):

R-HSA-1839031 Dimerization of cytosolic FGFR1 fusion proteins
R-HSA-1839039 Tyrosine kinase inhibitors bind and inhibit cytosolic FGFR1 fusion dimer phosphorylation
R-HSA-1839065 Phosphorylation of cytosolic FGFR1 fusion dimers
R-HSA-1839080 Activated cytosolic FGFR1 fusions bind PIK3CA
R-HSA-1839112 Phosphorylation of STAT5 by cytosolic FGFR1 fusions
R-HSA-1839094 Activated FGFR1 mutants and fusions bind PLCG1
R-HSA-1839100 p-4Y- PLCG1 dissociates from activated FGFR1 mutants and fusions
R-HSA-1839091 Cytosolic FGFR1 fusion protein-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-1839098 Activated FGFR1 mutants and fusions phosphorylate PLCG1
R-HSA-1839117 Signaling by cytosolic FGFR1 fusion mutants
R-HSA-1839124 FGFR1 mutant receptor activation
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A6NDG0, A6NI02, ENST00000610343.1, ENST00000610343.2, ENST00000610343.3, ENST00000610343.4, FIM, NR_148365, O43212, O43434, O60898, Q5W0Q4, Q5W0T3, Q63HP0, Q8NE39, Q9H0V5, Q9H538, Q9UBW7, Q9UEU2, RAMP, uc031zxu.1, uc031zxu.2, ZMYM2_HUMAN, ZNF198
UCSC ID: ENST00000610343.5
RefSeq Accession: NM_197968
Protein: Q9UBW7 (aka ZMYM2_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.