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

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: mouse all
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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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

WI-15119 (e-PCR)
- UniSTS:36625

STS-N24789 (e-PCR)
- UniSTS:72481

RH46701 (e-PCR)
- UniSTS:64115

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

NG_029388.1 RefSeqGene

Range

5001..25722

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_326

mRNA and Protein(s)

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
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