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    ZBTB47 zinc finger and BTB domain containing 47 [ Homo sapiens (human) ]

    Gene ID: 92999, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZBTB47provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 47provided by HGNC
    Primary source
    HGNC:HGNC:26955
    See related
    Ensembl:ENSG00000114853 MIM:619969; AllianceGenome:HGNC:26955
    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
    ZNF651
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 22.4), brain (RPKM 14.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB47 in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42652931..42667580)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42670901..42685579)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42695189..42709072)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SEC22 homolog C, vesicle trafficking protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:42622926-42623752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19746 Neighboring gene SS18 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14246 Neighboring gene ZBTB47 and NKTR antisense RNA 1 Neighboring gene natural killer cell triggering receptor Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:42672544-42673392 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:42673393-42674241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:42695163-42695804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14248 Neighboring gene Sharpr-MPRA regulatory region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42700825-42701735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42701736-42702645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42706502-42707002 Neighboring gene uncharacterized LOC124906232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42708562-42709098 Neighboring gene RNA, 7SL, cytoplasmic 567, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42724685-42725186 Neighboring gene Sharpr-MPRA regulatory region 14812 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:42729552-42729776 Neighboring gene kelch like family member 40

    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. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Ward SK, et al. Am J Med Genet A, 2024 Jan. PMID 37743782,
    2. CBFA2T3-ZNF651, like CBFA2T3-ZNF652, functions as a transcriptional corepressor complex. Kumar R, et al. FEBS Lett, 2010 Mar 5. PMID 20116376
    3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    4. Inflammation-dependent overexpression of c-Myc enhances CRL4(DCAF4) E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. Liu H, et al. J Pathol, 2019 Aug. PMID 30945288
    5. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. Oliviero G, et al. Sci Rep, 2015 Dec 21. PMID 26687479, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
      Title: De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
    2. Data show that ZNF651 is a ZNF652 paralogue that shares a common DNA binding sequence with ZNF652 and represses target gene expression through the formation of a CBFA2T3-ZNF651 corepressor complex.
      Title: CBFA2T3-ZNF651, like CBFA2T3-ZNF652, functions as a transcriptional corepressor complex.
    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

    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

    Homology

    Clone Names

    • KIAA1190, DKFZp434N0615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific 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 regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus 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 47
    Names
    zinc finger protein 651

    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_001410746.1 → NP_001397675.1  zinc finger and BTB domain-containing protein 47 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC006059
      Consensus CDS
      CCDS93251.1
      UniProtKB/TrEMBL
      A0A7P0T820
      Related
      ENSP00000504903.1, ENST00000680014.1

    2. NM_145166.4 → NP_660149.2  zinc finger and BTB domain-containing protein 47 isoform 2

      See identical proteins and their annotated locations for NP_660149.2

      Status: VALIDATED

      Source sequence(s)
      AB033016, AC006059, AK127065, BF509106
      Consensus CDS
      CCDS46805.2
      UniProtKB/Swiss-Prot
      H7BXD3, Q6ZSY6, Q8WTY8, Q9UFB7, Q9ULN0
      Related
      ENSP00000232974.6, ENST00000232974.11
      Conserved Domains (6) summary
      smart00225
      Location:18 → 113
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:630 → 701
      COG5048; FOG: Zn-finger [General function prediction only]
      TIGR04104
      Location:577 → 621
      cxxc_20_cxxc; cxxc_20_cxxc protein
      sd00017
      Location:578 → 598
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:4 → 110
      BTB; BTB/POZ domain
      pfam13465
      Location:646 → 669
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      42652931..42667580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449234.1 → XP_047305190.1  zinc finger and BTB domain-containing protein 47 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      42670901..42685579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348440.1 → XP_054204415.1  zinc finger and BTB domain-containing protein 47 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UFB7.3 GenPept UniProtKB/Swiss-Prot:Q9UFB7

    Gene LinkOut

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

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