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    ZBTB9 zinc finger and BTB domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 221504, updated on 5-May-2024

    Summary

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    Official Symbol
    ZBTB9provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:28323
    See related
    Ensembl:ENSG00000213588 AllianceGenome:HGNC:28323
    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
    ZNF919
    Summary
    Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 5.2), ovary (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB9 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33453083..33457544)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33273169..33278907)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33422353..33425321)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33393157-33393699 Neighboring gene synaptic Ras GTPase activating protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33396849-33397470 Neighboring gene cutA divalent cation tolerance homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33405630-33405807 Neighboring gene SYNGAP1 antisense RNA 1 Neighboring gene microRNA 5004 Neighboring gene uncharacterized LOC107986537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33499692-33500296 Neighboring gene RNA, 7SL, cytoplasmic 26, pseudogene

    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. Genome-wide association study of smoking behaviours in patients with COPD. Siedlinski M, et al. Thorax, 2011 Oct. PMID 21685187, Free PMC Article
    2. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article
    3. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561
    4. HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137. Zhang F, et al. Elife, 2020 Jun 15. PMID 32538781, Free PMC Article
    5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF, et al. PLoS Genet, 2009 Oct. PMID 19851445, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    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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    Markers

    Homology

    Clone Names

    • MGC23166

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor 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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 9

    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_152735.4 → NP_689948.1  zinc finger and BTB domain-containing protein 9

      See identical proteins and their annotated locations for NP_689948.1

      Status: VALIDATED

      Source sequence(s)
      AK122644, AL662799, BC014978, BX488390
      Consensus CDS
      CCDS4780.1
      UniProtKB/Swiss-Prot
      A2AB19, Q96C00
      UniProtKB/TrEMBL
      A0A1U9X8U5, B2R8Z7
      Related
      ENSP00000378503.2, ENST00000395064.3
      Conserved Domains (3) summary
      sd00017
      Location:388 → 405
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:413 → 433
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:38 → 140
      BTB; BTB/POZ domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      33453083..33457544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418350.1 → XP_047274306.1  zinc finger and BTB domain-containing protein 9 isoform X1

      UniProtKB/Swiss-Prot
      A2AB19, Q96C00
      UniProtKB/TrEMBL
      A0A1U9X8U5

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      4900529..4906267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331285.1 → XP_054187260.1  zinc finger and BTB domain-containing protein 9 isoform X1

      UniProtKB/Swiss-Prot
      A2AB19, Q96C00
      UniProtKB/TrEMBL
      A0A1U9X8U5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      33273169..33278907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354597.1 → XP_054210572.1  zinc finger and BTB domain-containing protein 9 isoform X1

      UniProtKB/Swiss-Prot
      A2AB19, Q96C00
      UniProtKB/TrEMBL
      A0A1U9X8U5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96C00.1 GenPept UniProtKB/Swiss-Prot:Q96C00

    Gene LinkOut

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

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