The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017] See more...

Aliases for PRDM6 Gene

Aliases for PRDM6 Gene

  • PR/SET Domain 6 2 3 5
  • Putative Histone-Lysine N-Methyltransferase PRDM6 3 4
  • PR Domain-Containing Protein 6 3 4
  • PR Domain Containing 6 2 3
  • PR Domain 6 2 3
  • PR-Domain Zinc Finger Protein 6 3
  • PR Domain Zinc Finger Protein 6 4
  • EC 2.1.1.- 4
  • KMT8C 3
  • PRISM 3
  • PDA3 3
  • PFM3 4

External Ids for PRDM6 Gene

Previous GeneCards Identifiers for PRDM6 Gene

  • GC05P122055
  • GC05P122751
  • GC05P122455
  • GC05P122480
  • GC05P122452
  • GC05U900559
  • GC05P117612
  • GC05P122424
  • GC05P123089

Summaries for PRDM6 Gene

Entrez Gene Summary for PRDM6 Gene

  • The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]

GeneCards Summary for PRDM6 Gene

PRDM6 (PR/SET Domain 6) is a Protein Coding gene. Diseases associated with PRDM6 include Patent Ductus Arteriosus 3 and Familial Patent Arterial Duct. Among its related pathways are Metabolism and Lysine degradation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is PRDM14.

UniProtKB/Swiss-Prot Summary for PRDM6 Gene

  • Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression.

Additional gene information for PRDM6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRDM6 Gene

Genomics for PRDM6 Gene

GeneHancer (GH) Regulatory Elements for PRDM6 Gene

Promoters and enhancers for PRDM6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRDM6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRDM6

Top Transcription factor binding sites by QIAGEN in the PRDM6 gene promoter:
  • ARP-1
  • C/EBPalpha
  • CHOP-10
  • Pax-4a
  • Sp1
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF-1:USF-2
  • USF2

Genomic Locations for PRDM6 Gene

Genomic Locations for PRDM6 Gene
chr5:123,035,985-123,194,266
(GRCh38/hg38)
Size:
158,282 bases
Orientation:
Plus strand
chr5:122,424,816-122,529,960
(GRCh37/hg19)
Size:
105,145 bases
Orientation:
Plus strand

Genomic View for PRDM6 Gene

Genes around PRDM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRDM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRDM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRDM6 Gene

Proteins for PRDM6 Gene

  • Protein details for PRDM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQX0-PRDM6_HUMAN
    Recommended name:
    Putative histone-lysine N-methyltransferase PRDM6
    Protein Accession:
    Q9NQX0
    Secondary Accessions:
    • B5MCJ4
    • Q9NQW9

    Protein attributes for PRDM6 Gene

    Size:
    595 amino acids
    Molecular mass:
    64452 Da
    Quaternary structure:
    • Interacts with HDAC1, HDAC2, HDAC3, CBX1 and EP300.
    SequenceCaution:
    • Sequence=AAF78078.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF78079.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PRDM6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRDM6 Gene

Post-translational modifications for PRDM6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRDM6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRDM6 Gene

Domains & Families for PRDM6 Gene

Gene Families for PRDM6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PRDM6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRDM6 Gene

GenScript: Design optimal peptide antigens:
  • PR domain-containing protein 6 (PRDM6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQX0

UniProtKB/Swiss-Prot:

PRDM6_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
genes like me logo Genes that share domains with PRDM6: view

Function for PRDM6 Gene

Molecular function for PRDM6 Gene

UniProtKB/Swiss-Prot Function:
Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl-[histone] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl-[histone] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:10024, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:9846, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929;.

Enzyme Numbers (IUBMB) for PRDM6 Gene

Phenotypes From GWAS Catalog for PRDM6 Gene

Gene Ontology (GO) - Molecular Function for PRDM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with PRDM6: view
genes like me logo Genes that share phenotypes with PRDM6: view

Human Phenotype Ontology for PRDM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRDM6 Gene

MGI Knock Outs for PRDM6: