SUZ12
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SUZ12 (HGNC:17101) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SUZ12 polycomb repressive complex 2 subunit
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
JJAZ1, KIAA0160, CHET9
%HI
3.13(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
17q11.2
Genomic Coordinates
GRCh37/hg19: chr17:30264026-30328057 NCBI Ensembl UCSC
GRCh38/hg38: chr17:31937007-32001038 NCBI Ensembl UCSC
MANE Select Transcript
NM_015355.4 ENST00000322652.10 (Read more about MANE Select)
Function
Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:15231737, PubMed:15385962, PubMed:16618801, PubMed:17344414, PubMed:18285464, PubMed:28229514, PubMed:29499137, PubMed:31959557). The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (PubMed:124... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22133
ClinGen Curation ID:
CCID:007959
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:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Studies in mouse have demonstrated that haploinsufficiency of SUZ12 results in cerebellar herniation and an enlarged brainstem, accompanied by occipital cortical alterations and spina bifida (PMID:19535498). Somatic loss of function mutation in SUZ12 have been associated with T-ALL (PMIDs:22237151 and 22237106). However, germline loss of function mutations or focal deletions of SUZ12 have not been described. 5-10% of the NF patients show a large deletion including the SUZ12 gene. Haploinsuffiency of SUZ12 has been proposed to be responsible for the brain malformation, brain malfunction and/or congenital heart defects of these patients.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)