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SUZ12 SUZ12 polycomb repressive complex 2 subunit [ Homo sapiens (human) ]

Gene ID: 23512, updated on 26-Nov-2021

Summary

Official Symbol
SUZ12provided by HGNC
Official Full Name
SUZ12 polycomb repressive complex 2 subunitprovided by HGNC
Primary source
HGNC:HGNC:17101
See related
Ensembl:ENSG00000178691 MIM:606245
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHET9; IMMAS; JJAZ1
Summary
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]
Expression
Ubiquitous expression in testis (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues See more
Orthologs
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Genomic context

See SUZ12 in Genome Data Viewer
Location:
17q11.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (31937007..32001040)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30264026..30328057)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene coordinator of PRMT5 and differentiation stimulator Neighboring gene UTP6 small subunit processome component Neighboring gene RNA, 5S ribosomal pseudogene 437 Neighboring gene SUZ12 PRS4 recombination region Neighboring gene leucine rich repeat containing 37B Neighboring gene NF1-REPc UWA160-1 recombination region Neighboring gene SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Imagawa-Matsumoto syndrome
MedGen: C5394073 OMIM: 618786 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-07-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-07-06)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat SUZ12, one of the Polycomb Repressive Complex 2 proteins, is identified to interact with HIV-1 Tat in Jurkat cell PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables enzyme activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables histone methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in dosage compensation by inactivation of X chromosome IEA
Inferred from Electronic Annotation
more info
 
involved_in histone methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in histone ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of ESC/E(Z) complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of ESC/E(Z) complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of ESC/E(Z) complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of chromatin silencing complex IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of protein-DNA complex IEA
Inferred from Electronic Annotation
more info
 
located_in sex chromatin IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
polycomb protein SUZ12
Names
chET 9 protein
chromatin precipitated E2F target 9 protein
joined to JAZF1 protein
suppressor of zeste 12 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009237.1 RefSeqGene

    Range
    4983..69014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321207.2NP_001308136.1  polycomb protein SUZ12 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC129917, BC018583, BI668506, BM975130, DR000680
    Consensus CDS
    CCDS82101.1
    UniProtKB/TrEMBL
    J3QQW9
    Related
    ENSP00000463936.1, ENST00000580398.1
    Conserved Domains (1) summary
    pfam09733
    Location:523657
    VEFS-Box; VEFS-Box of polycomb protein
  2. NM_015355.4NP_056170.2  polycomb protein SUZ12 isoform 1

    See identical proteins and their annotated locations for NP_056170.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.
    Source sequence(s)
    AC129917, BI668506, BM975130, D63881, DR000680
    Consensus CDS
    CCDS11270.1
    UniProtKB/Swiss-Prot
    Q15022
    Related
    ENSP00000316578.5, ENST00000322652.10
    Conserved Domains (1) summary
    pfam09733
    Location:546680
    VEFS-Box; VEFS-Box of polycomb protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    31937007..32001040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024409.1XP_016879898.1  polycomb protein SUZ12 isoform X2

    Conserved Domains (1) summary
    pfam09733
    Location:248382
    VEFS-Box; VEFS-Box of polycomb protein
  2. XM_006721794.3XP_006721857.1  polycomb protein SUZ12 isoform X1

    Conserved Domains (1) summary
    pfam09733
    Location:410544
    VEFS-Box; VEFS-Box of polycomb protein

RNA

  1. XR_001752462.1 RNA Sequence

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