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

    Gene ID: 23512, updated on 3-May-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
    mouse all
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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

    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
    		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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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