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

Gene ID: 23512, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:17101
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

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Location:
17q11.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (31937007..32001038)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32882881..32946915)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30264026..30328057)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30185250-30185924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8414 Neighboring gene coordinator of PRMT5 and differentiation stimulator Neighboring gene UTP6 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12021 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30228395-30228986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30243727-30244384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30244385-30245040 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30264117-30264702 Neighboring gene RNA, 5S ribosomal pseudogene 437 Neighboring gene SUZ12 PRS4 recombination region Neighboring gene uncharacterized LOC124903972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30333403-30334325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8417 Neighboring gene leucine rich repeat containing 37B Neighboring gene SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. Yüksel Ülker A, et al. Am J Med Genet A, 2023 Jun. PMID 36919607
  2. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Imagawa E, et al. Clin Genet, 2023 Apr. PMID 36645289
  3. SUZ12 participates in the proliferation of PNH clones by regulating histone H3K27me3 levels. Chen Y, et al. J Leukoc Biol, 2022 Aug. PMID 34990019
  4. Competition between PRC2.1 and 2.2 subcomplexes regulates PRC2 chromatin occupancy in human stem cells. Youmans DT, et al. Mol Cell, 2021 Feb 4. PMID 33338397, Free PMC Article
  5. Rare SUZ12 variants commonly cause an overgrowth phenotype. Cyrus SS, et al. Am J Med Genet C Semin Med Genet, 2019 Dec. PMID 31736240

See all (236) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Circ-SUZ12 Protects Cardiomyocytes from Hypoxia-Induced Dysfunction Through Upregulating SUZ12 Expression to Activate Wnt/beta-catenin Signaling Pathway.
    Title: Circ-SUZ12 Protects Cardiomyocytes from Hypoxia-Induced Dysfunction Through Upregulating SUZ12 Expression to Activate Wnt/β-catenin Signaling Pathway.
  2. An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
    Title: An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
  3. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
    Title: Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
  4. The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.
    Title: The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.
  5. SUZ12 participates in the proliferation of PNH clones by regulating histone H3K27me3 levels.
    Title: SUZ12 participates in the proliferation of PNH clones by regulating histone H3K27me3 levels.
  6. JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
    Title: JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
  7. RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
    Title: RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
  8. DEP Domain Containing 1 Promotes Proliferation, Invasion, and Epithelial-Mesenchymal Transition in Colorectal Cancer by Enhancing Expression of Suppressor of Zest 12.
    Title: DEP Domain Containing 1 Promotes Proliferation, Invasion, and Epithelial-Mesenchymal Transition in Colorectal Cancer by Enhancing Expression of Suppressor of Zest 12.
  9. HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression.
    Title: HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression.
  10. The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.
    Title: The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.
Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
  
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 lncRNA binding IEA
Inferred from Electronic Annotation
more info
  
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 cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in facultative heterochromatin formation 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 random inactivation of X chromosome 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
  
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 RSC-type complex IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
part_of ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
  
part_of sex chromatin IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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_001321207.2 → NP_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
    A8K1U9, J3QQW9
    Related
    ENSP00000463936.1, ENST00000580398.1
    Conserved Domains (1) summary
    pfam09733
    Location:523 → 657
    VEFS-Box; VEFS-Box of polycomb protein

  2. NM_015355.4 → NP_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, Q96BD9
    UniProtKB/TrEMBL
    A8K1U9
    Related
    ENSP00000316578.5, ENST00000322652.10
    Conserved Domains (1) summary
    pfam09733
    Location:546 → 680
    VEFS-Box; VEFS-Box of polycomb protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    31937007..32001038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435704.1 → XP_047291660.1  polycomb protein SUZ12 isoform X1

  2. XM_006721794.4 → XP_006721857.1  polycomb protein SUZ12 isoform X2

    UniProtKB/TrEMBL
    A8K1U9
    Conserved Domains (1) summary
    pfam09733
    Location:410 → 544
    VEFS-Box; VEFS-Box of polycomb protein

  3. XM_047435707.1 → XP_047291663.1  polycomb protein SUZ12 isoform X5

  4. XM_047435705.1 → XP_047291661.1  polycomb protein SUZ12 isoform X3

  5. XM_047435706.1 → XP_047291662.1  polycomb protein SUZ12 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    32882881..32946915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315625.1 → XP_054171600.1  polycomb protein SUZ12 isoform X1

  2. XM_054315626.1 → XP_054171601.1  polycomb protein SUZ12 isoform X2

  3. XM_054315629.1 → XP_054171604.1  polycomb protein SUZ12 isoform X5

  4. XM_054315627.1 → XP_054171602.1  polycomb protein SUZ12 isoform X3

  5. XM_054315628.1 → XP_054171603.1  polycomb protein SUZ12 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15022.3 GenPept UniProtKB/Swiss-Prot:Q15022

Gene LinkOut

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