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    ZBTB6 zinc finger and BTB domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 10773, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZBTB6provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:16764
    See related
    Ensembl:ENSG00000186130 MIM:605976; AllianceGenome:HGNC:16764
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZID; ZNF482
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 5.7), thyroid (RPKM 5.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB6 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122908056..122913323, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (135105281..135110546, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (125670335..125675602, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125613641-125614416 Neighboring gene keratin 18 pseudogene 67 Neighboring gene ring finger and CCCH-type domains 2 Neighboring gene small nucleolar RNA, C/D box 90 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125677135-125677892 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125683768-125684268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125684269-125684769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20244 Neighboring gene zinc finger and BTB domain containing 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28931 Neighboring gene uncharacterized LOC105379839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125703098-125703822 Neighboring gene RAB GTPase activating protein 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 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. The POZ domain: a conserved protein-protein interaction motif. Bardwell VJ, et al. Genes Dev, 1994 Jul 15. PMID 7958847
    2. NAC1, a POZ/BTB protein that functions as a corepressor. Korutla L, et al. Neurochem Int, 2009 Mar-Apr. PMID 19121354
    3. Functional proteomics mapping of a human signaling pathway. Colland F, et al. Genome Res, 2004 Jul. PMID 15231748, Free PMC Article
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: ZBTB26

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 6
    Names
    zinc finger protein 482
    zinc finger protein with interaction domain

    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.

    mRNA and Protein(s)

    1. NM_006626.6 → NP_006617.1  zinc finger and BTB domain-containing protein 6

      See identical proteins and their annotated locations for NP_006617.1

      Status: VALIDATED

      Source sequence(s)
      BC037282, BU600946, BX390688, BX641237
      Consensus CDS
      CCDS6846.1
      UniProtKB/Swiss-Prot
      A8K8N6, Q15916
      Related
      ENSP00000362763.3, ENST00000373659.4
      Conserved Domains (5) summary
      sd00017
      Location:328 → 348
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18197
      Location:8 → 123
      BTB_POZ_ZBTB6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 6 (ZBTB6)
      pfam00096
      Location:326 → 348
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:340 → 364
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:331 → 401
      zf-C2H2_8; C2H2-type zinc ribbon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122908056..122913323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      135105281..135110546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15916.1 GenPept UniProtKB/Swiss-Prot:Q15916

    Gene LinkOut

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

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