PRDM6
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PRDM6 (HGNC:9350) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
PR/SET domain 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PRISM, KMT8C
%HI
13.65(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
5q23.2
Genomic Coordinates
GRCh37/hg19: chr5:122424936-122529960 NCBI Ensembl UCSC
GRCh38/hg38: chr5:123089241-123194266 NCBI Ensembl UCSC
MANE Select Transcript
NM_001136239.4 ENST00000407847.5 (Read more about MANE Select)
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 a... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35920
ClinGen Curation ID:
CCID:007710
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/14/2017

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PRDM6 encodes a SET-domain containing nuclear protein specific to vascular smooth muscle cells with histone methyltransferase (HMT) activity. There is currently insufficient evidence that haploinsufficiency of this gene is associated with constitutional phenotypes. Additional Literature: Li et al., 2016 (PMID: 27181681) used combined genome-wide linkage and whole-exome sequencing of a cohort of 35 patients with autosomal dominant non-syndromic familial patent ductus arteriosus to identify 3 independent missense (amino-acid substitution) mutations in PRDM6. Functional analysis by in vitro expression of wild-type vs. mutant constructs showed these proteins were expressed, but were mislocalized intracellularly and/or exhibited altered enzymatic HMT activity. The authors propose a loss-of-function effect of these mutations via intracellular redistribution of the protein and/or by alteration of its MT activities.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There is currently no evidence that triplosensitivity of this gene is associated with constitutional phenotypes.

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)