Human Gene PRDM2 (ENST00000343137.8) from GENCODE V44
  Description: S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. (from UniProt Q13029)
RefSeq Summary (NM_001007257): This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].
Gencode Transcript: ENST00000343137.8
Gencode Gene: ENSG00000116731.23
Transcript (Including UTRs)
   Position: hg38 chr1:13,749,415-13,787,657 Size: 38,243 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr1:13,773,170-13,786,527 Size: 13,358 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:13,749,415-13,787,657)mRNA (may differ from genome)Protein (1481 aa)
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: PRDM2_HUMAN
DESCRIPTION: RecName: Full=PR domain zinc finger protein 2; EC=2.1.1.43; AltName: Full=GATA-3-binding protein G3B; AltName: Full=Lysine N-methyltransferase 8; AltName: Full=MTB-ZF; AltName: Full=MTE-binding protein; AltName: Full=PR domain-containing protein 2; AltName: Full=Retinoblastoma protein-interacting zinc finger protein; AltName: Full=Zinc finger protein RIZ;
FUNCTION: S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene.
CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
SUBUNIT: Binds to the retinoblastoma protein (RB). Interacts with GATA3.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in retinoblastoma cell lines and in brain tumors. Also expressed in a number of other cell lines and in brain, heart, skeletal muscle, liver and spleen. Isoform 1 is expressed in testis at much higher level than isoform 3.
SIMILARITY: Contains 8 C2H2-type zinc fingers.
SIMILARITY: Contains 1 SET domain.
SEQUENCE CAUTION: Sequence=BAA08110.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRDM2ID41834ch1p36.html";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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: PRDM2
Diseases sorted by gene-association score: retinoblastoma (49), wilms tumor susceptibility-5 (6), retinal cancer (4), sensory system cancer (4), ocular cancer (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.19 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 408.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  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 -52.10221-0.236 Picture PostScript Text
3' UTR -289.501130-0.256 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
IPR009170 - RIZ_retinblastoma-bd_prot
IPR001214 - SET_dom
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00856 - SET domain
PF00096 - Zinc finger, C2H2 type

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JV0 - NMR MuPIT 2QPW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13029
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-  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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0018024 histone-lysine N-methyltransferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0008340 determination of adult lifespan
GO:0032259 methylation
GO:0034968 histone lysine methylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005794 Golgi apparatus


-  Descriptions from all associated GenBank mRNAs
  BC014468 - Homo sapiens PR domain containing 2, with ZNF domain, mRNA (cDNA clone IMAGE:4876775), with apparent retained intron.
U17838 - Homo sapiens zinc finger protein RIZ mRNA, complete cds.
BC172414 - Synthetic construct Homo sapiens clone IMAGE:100069108, MGC:199119 PR domain containing 2, with ZNF domain (PRDM2) mRNA, encodes complete protein.
BC032768 - Homo sapiens cDNA clone IMAGE:3872694, containing frame-shift errors.
D45132 - Homo sapiens mRNA for zinc-finger DNA-binding protein, complete cds.
AB208877 - Homo sapiens mRNA for PR-domain zinc finger protein 2 variant protein.
BX647310 - Homo sapiens mRNA; cDNA DKFZp686D2193 (from clone DKFZp686D2193).
AK307377 - Homo sapiens cDNA, FLJ97325.
AK308135 - Homo sapiens cDNA, FLJ98083.
AK300441 - Homo sapiens cDNA FLJ54548 partial cds, highly similar to PR domain zinc finger protein 2.
BC140012 - Homo sapiens cDNA clone IMAGE:8860424.
AK293725 - Homo sapiens cDNA FLJ53305 partial cds, highly similar to PR domain zinc finger protein 2.
AK311678 - Homo sapiens cDNA, FLJ18720.
BC051275 - Homo sapiens PR domain containing 2, with ZNF domain, mRNA (cDNA clone IMAGE:6215820), **** WARNING: chimeric clone ****.
U23736 - Human GATA-3 binding protein G3B mRNA, partial cds.
JD038509 - Sequence 19533 from Patent EP1572962.
JD216466 - Sequence 197490 from Patent EP1572962.
JD404975 - Sequence 385999 from Patent EP1572962.
JD143097 - Sequence 124121 from Patent EP1572962.
JD142873 - Sequence 123897 from Patent EP1572962.
JD084637 - Sequence 65661 from Patent EP1572962.
JD019732 - Sequence 756 from Patent EP1572962.
JD284291 - Sequence 265315 from Patent EP1572962.
JD188385 - Sequence 169409 from Patent EP1572962.
JD313634 - Sequence 294658 from Patent EP1572962.
JD551434 - Sequence 532458 from Patent EP1572962.
JD269764 - Sequence 250788 from Patent EP1572962.
JD243870 - Sequence 224894 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000343137.1, ENST00000343137.2, ENST00000343137.3, ENST00000343137.4, ENST00000343137.5, ENST00000343137.6, ENST00000343137.7, KMT8, NM_001393988, PRDM2_HUMAN, Q13029, Q13149, Q14550, Q5VUL9, RIZ, uc001avk.1, uc001avk.2, uc001avk.3, uc001avk.4
UCSC ID: ENST00000343137.8
RefSeq Accession: NM_001007257
Protein: Q13029 (aka PRDM2_HUMAN or PRD2_HUMAN)
CCDS: CCDS30603.1

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