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    ZBTB39 zinc finger and BTB domain containing 39 [ Homo sapiens (human) ]

    Gene ID: 9880, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ZBTB39provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 39provided by HGNC
    Primary source
    HGNC:HGNC:29014
    See related
    Ensembl:ENSG00000166860 MIM:619384; AllianceGenome:HGNC:29014
    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
    ZNF922
    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. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 5.1), ovary (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB39 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56998836..57006546, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56966705..56974415, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57392620..57400330, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene retinol dehydrogenase 16 Neighboring gene origin of replication ori6 Neighboring gene uncharacterized LOC124902945 Neighboring gene retinol dehydrogenase 16 (all-trans) pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr12.2240 Neighboring gene G protein-coupled receptor 182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4568 Neighboring gene tachykinin precursor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57423222-57424059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6521 Neighboring gene myosin IA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834

    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. Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders. Estruch SB, et al. Hum Mol Genet, 2018 Apr 1. PMID 29365100
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1997 Apr 28. PMID 9205841
    3. The p97/VCP segregase is essential for arsenic-induced degradation of PML and PML-RARA. Jaffray EG, et al. J Cell Biol, 2023 Apr 3. PMID 36880596, Free PMC Article
    4. The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. Diner BA, et al. Mol Syst Biol, 2015 Feb 9. PMID 25665578, Free PMC Article
    5. The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain. Weber LM, et al. Nucleic Acids Res, 2023 Jan 25. PMID 36537216, Free PMC Article

    See all (15) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: RDH16

    Homology

    Clone Names

    • KIAA0352

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 39

    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_014830.3 → NP_055645.1  zinc finger and BTB domain-containing protein 39

      See identical proteins and their annotated locations for NP_055645.1

      Status: VALIDATED

      Source sequence(s)
      AC026120, AK292468, BC152461
      Consensus CDS
      CCDS31839.1
      UniProtKB/Swiss-Prot
      A7MD38, O15060, Q9UD98
      Related
      ENSP00000300101.2, ENST00000300101.3
      Conserved Domains (3) summary
      sd00017
      Location:607 → 627
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:20 → 119
      BTB; BTB/POZ domain
      pfam13465
      Location:619 → 643
      zf-H2C2_2; Zinc-finger double domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56998836..57006546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56966705..56974415 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15060.1 GenPept UniProtKB/Swiss-Prot:O15060

    Gene LinkOut

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

    Chemical Information
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