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

    Gene ID: 9841, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.3), testis (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109462594..109483219, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110640632..110661258, complement)
    RS_2024_09 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. Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. Nitta H, et al. J Hum Genet, 2013 Jul. PMID 23739126
    2. 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
    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. Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation. Aktar S, et al. Genes Cells, 2019 Nov. PMID 31561277
    5. A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Chouery E, et al. Clin Genet, 2012 Nov. PMID 21906047

    See all (58) 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
    		Compare labs

    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)

    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_2024_08

    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

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

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