U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 23512, updated on 17-Jun-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SUZ12 in Genome Data Viewer
    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

    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

    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 
    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

    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)

    NEW Try the new Transcript table

    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
      A8K1U9, 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, Q96BD9
      UniProtKB/TrEMBL
      A8K1U9
      Related
      ENSP00000316578.5, ENST00000322652.10
      Conserved Domains (1) summary
      pfam09733
      Location:546680
      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_047435704.1XP_047291660.1  polycomb protein SUZ12 isoform X1

      UniProtKB/TrEMBL
      A8K1U9
    2. XM_006721794.4XP_006721857.1  polycomb protein SUZ12 isoform X2

      UniProtKB/TrEMBL
      A8K1U9
      Conserved Domains (1) summary
      pfam09733
      Location:410544
      VEFS-Box; VEFS-Box of polycomb protein
    3. XM_047435707.1XP_047291663.1  polycomb protein SUZ12 isoform X5

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

    5. XM_047435706.1XP_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_054315625.1XP_054171600.1  polycomb protein SUZ12 isoform X1

      UniProtKB/TrEMBL
      A8K1U9
    2. XM_054315626.1XP_054171601.1  polycomb protein SUZ12 isoform X2

      UniProtKB/TrEMBL
      A8K1U9
    3. XM_054315629.1XP_054171604.1  polycomb protein SUZ12 isoform X5

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

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