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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001164313.2NP_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:296316
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:295316
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:27133
      BTB; BTB/POZ domain
    2. NM_014797.3NP_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:321480
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:408428
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:27133
      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)