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ZBTB24 zinc finger and BTB domain containing 24 [ Homo sapiens (human) ]

Gene ID: 9841, updated on 5-Mar-2024

Summary

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Official Symbol
ZBTB24provided by HGNC
Official Full Name
zinc finger and BTB domain containing 24provided by HGNC
Primary source
HGNC:HGNC:21143
See related
Ensembl:ENSG00000112365 MIM:614064; AllianceGenome:HGNC:21143
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BIF1; ICF2; PATZ2; ZNF450
Summary
Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 6.3), testis (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

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See ZBTB24 in Genome Data Viewer
Location:
6q21
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109462594..109483219, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110640632..110661258, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109783797..109804422, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:109703563-109704072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24923 Neighboring gene Sharpr-MPRA regulatory region 15445 Neighboring gene CD164 molecule Neighboring gene peptidylprolyl isomerase like 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:109761883-109762088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109775979-109776487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109801913-109802414 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17464 Neighboring gene sphingomyelin phosphodiesterase 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:109811810-109812520 Neighboring gene ZBTB24 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109828991-109829516 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109829517-109830042 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109834827-109835332 Neighboring gene adenylate kinase 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110000392-110001073 Neighboring gene MPRA-validated peak6018 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24932 Neighboring gene FIG4 phosphoinositide 5-phosphatase

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. ZBTB24 (Zinc Finger and BTB Domain Containing 24) prevents recurrent spontaneous abortion by promoting trophoblast proliferation, differentiation and migration. Ruan H, et al. Bioengineered, 2022 Feb. PMID 35038951, Free PMC Article
  2. Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation. Aktar S, et al. Genes Cells, 2019 Nov. PMID 31561277
  3. Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. Alghamdi HA, et al. J Clin Immunol, 2018 Nov. PMID 30511102
  4. Downregulation of ZBTB24 hampers the G0/1- to S-phase cell-cycle transition via upregulating the expression of IRF-4 in human B cells. Liang J, et al. Genes Immun, 2016 Jul. PMID 27098601
  5. Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). von Bernuth H, et al. Orphanet J Rare Dis, 2014 Oct 21. PMID 25330735, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ZBTB24 (Zinc Finger and BTB Domain Containing 24) prevents recurrent spontaneous abortion by promoting trophoblast proliferation, differentiation and migration.
    Title: ZBTB24 (Zinc Finger and BTB Domain Containing 24) prevents recurrent spontaneous abortion by promoting trophoblast proliferation, differentiation and migration.
  2. Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
    Title: Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
  3. ZBTB24 activates the expression of CDCA7 in T cells.ZBTB24 regulates the apoptosis of T cells via CDCA7/TRAIL-R axis.
    Title: ZBTB24 regulates the apoptosis of human T cells via CDCA7/TRAIL-receptor axis.
  4. Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation. Domains and motifs important for the biological function of ZBTB24, which provides a basis for understanding the molecular mechanisms underlying the pathogenesis of ICF syndrome.
    Title: Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation.
  5. this study expands the clinical and mutation spectrum of Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome by analyzing Saudi hypogammaglobulinemia patients and a novel deletion in the ZBTB24 gene
    Title: Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
  6. Chromatin immunoprecipitation coupled with loss-of-function approaches in model systems revealed common loci bound by ZBTB24 and DNMT3B, where they function to regulate gene body methylation. Genes coordinately regulated by ZBTB24 and DNMT3B are enriched for molecular mechanisms essential for cellular homeostasis, highlighting the importance of the ZBTB24-DNMT3B interplay in maintaining epigenetic patterns
    Title: ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation.
  7. in contrast to Immunodeficiency, Centromeric instability and Facial anomalies syndrome type 1 (ICF1), the subtelomeric methylation patterns in cells of ICF2-4 patients do not differ significantly from those in normal cells, and ICF2-4 cells exhibit a normal telomeric phenotype. Also knocking down the expression of ZBTB24, CDCA7 and HELLS in normal human fibroblasts does not affect subtelomeric methylation.
    Title: Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
  8. Here, we performed a comparative analysis of perturbed DNA methylation landscapes in a cohort of ICF patients using an array-based assay to (i) evaluate the similarities and differences in methylation landscapes depending on patient genotypes as an index of a functional link between the four ICF factors, (ii) identify genomic regions that rely on DNMT3B, ZBTB24, CDCA7 or HELLS for their methylation status
    Title: Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.
  9. data indicate that SRRM4 regulates alternative RNA splicing of the Bif-1 gene that enables PCa cells resistant to apoptotic stimuli under anti-cancer therapies, and may contribute to AdPC progression into t-NEPC.
    Title: Roles of Alternative RNA Splicing of the Bif-1 Gene by SRRM4 During the Development of Treatment-induced Neuroendocrine Prostate Cancer.
  10. The biallelic deletion of ZBTB24 provides strong support for the hypothesis that most ICF2 patients suffer from a ZBTB24 loss of function mechanism and confirms that complete absence of ZBTB24 is compatible with human life. This is in contrast to the observed early embryonic lethality in mice lacking functional Zbtb24
    Title: Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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

Associated conditions

Description Tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
MedGen: C3279748 OMIM: 614069 GeneReviews: Not available
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EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity 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 hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
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 24
Names
POZ (BTB) and AT hook containing zinc finger 2
zinc finger protein 450

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.

Genomic

  1. NG_029388.1 RefSeqGene

    Range
    5001..25722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_326

mRNA and Protein(s)

  1. NM_001164313.2 → NP_001157785.1  zinc finger and BTB domain-containing protein 24 isoform 2

    See identical proteins and their annotated locations for NP_001157785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and the 3' coding region, compared to variant 1, resulting in a significantly shorter protein (isoform 2) that has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB007901, BC036731
    UniProtKB/TrEMBL
    A0A8V8TLV5
    Conserved Domains (3) summary
    sd00017
    Location:296 → 316
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:295 → 316
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:27 → 133
    BTB; BTB/POZ domain

  2. NM_014797.3 → NP_055612.2  zinc finger and BTB domain-containing protein 24 isoform 1

    See identical proteins and their annotated locations for NP_055612.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB007901, BC117374, BX648883
    Consensus CDS
    CCDS34509.1
    UniProtKB/Swiss-Prot
    O43167, Q17RC6, Q5TED5, Q8N455
    UniProtKB/TrEMBL
    A0A8V8TLS8
    Related
    ENSP00000230122.4, ENST00000230122.4
    Conserved Domains (3) summary
    COG5048
    Location:321 → 480
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:408 → 428
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:27 → 133
    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
    109462594..109483219 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    110640632..110661258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43167.2 GenPept UniProtKB/Swiss-Prot:O43167

Gene LinkOut

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