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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
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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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