Zbtb24 zinc finger and BTB domain containing 24 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Zbtb24provided by MGI
Official Full Name: zinc finger and BTB domain containing 24provided by MGI
Primary source: MGI:MGI:3039618
See related: Ensembl:ENSMUSG00000019826 AllianceGenome:MGI:3039618
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bif1; Bsg1; ZNF450
Summary: This gene encodes a protein containing eight C2H2-type zinc fingers and a BTB domain. Expression of this gene is induced by bone morphogenetic protein-2 signaling. Mutation of the related gene in humans causes immunodeficiency-centromeric instability-facial anomalies syndrome-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression: Ubiquitous expression in thymus adult (RPKM 6.0), ovary adult (RPKM 5.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B1; 10 22.38 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (41326354..41341578)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (41450358..41465582)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24.
Title: Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24.
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.
The ZBTB24-CDCA7 axis regulates HELLS enrichment at centromeric satellite repeats to facilitate DNA methylation.
Title: The ZBTB24-CDCA7 axis regulates HELLS enrichment at centromeric satellite repeats to facilitate DNA methylation.
The results demonstrated that the C382Y and C407G mutations in mouse ZBTB24 abolish specific DNA binding and fail to induce Cdca7 expression, modeling the events in immunodeficiency-centromeric instability-facial anomalies syndrome in humans.
Title: Structural basis of specific DNA binding by the transcription factor ZBTB24.
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.
Transcriptome analysis identified Cdca7 as the top down-regulated gene in Zbtb24 homozygous mutant mESCs, which can be restored by ectopic ZBTB24 expression. Finally, we show that this regulation is conserved between species and that CDCA7 levels are reduced in patients carrying ZBTB24 nonsense mutations
Title: Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.
mutation of human Zbtb24 causes ICF syndrome
Title: Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
consistent induction of ZNF450 by BMP-2 after 4 h in three murine pluripotent cell lines suggests that ZNF450 may play a role in the BMP-2 signalling pathway
Title: Bone morphogenetic protein-2 induces expression of murine zinc finger transcription factor ZNF450.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	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

Process	Evidence Code	Pubs
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cytokine production	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
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: BMP-induced factor 1; bone morphogenetic protein-induced factor 1; brain specific protein 1; 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.

mRNA and Protein(s)

NM_001277229.1 → NP_001264158.1 zinc finger and BTB domain-containing protein 24 isoform 2

See identical proteins and their annotated locations for NP_001264158.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region and lacks an exon, which results in a segment containing a frameshift, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC153360, BC050933

Consensus CDS

CCDS87996.1

UniProtKB/Swiss-Prot

Q80X44

Related

ENSMUSP00000148861.2, ENSMUST00000213797.2

Conserved Domains (6) summary

smart00225
Location:38 → 133

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:328 → 490

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:295 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:294 → 315

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:27 → 128

BTB; BTB/POZ domain

pfam13465
Location:308 → 332

zf-H2C2_2; Zinc-finger double domain
NM_001277230.1 → NP_001264159.1 zinc finger and BTB domain-containing protein 24 isoform 3

See identical proteins and their annotated locations for NP_001264159.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several 3' coding exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC153360, AK042114, AK169260

Consensus CDS

CCDS87997.1

UniProtKB/Swiss-Prot

Q80X44

Related

ENSMUSP00000150197.2, ENSMUST00000216656.2

Conserved Domains (4) summary

smart00225
Location:38 → 133

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00017
Location:295 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:294 → 315

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:27 → 128

BTB; BTB/POZ domain
NM_153398.3 → NP_700447.2 zinc finger and BTB domain-containing protein 24 isoform 1

See identical proteins and their annotated locations for NP_700447.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC153360, BC050933

Consensus CDS

CCDS23804.1

UniProtKB/Swiss-Prot

Q3UIB7, Q7TPC4, Q80X44, Q8CJC9

Related

ENSMUSP00000079592.9, ENSMUST00000080771.10

Conserved Domains (5) summary

smart00225
Location:38 → 133

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:320 → 479

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:407 → 427

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:27 → 128

BTB; BTB/POZ domain

pfam13465
Location:420 → 443

zf-H2C2_2; Zinc-finger double domain

RNA

NR_102360.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC153360, BC050933

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

41326354..41341578

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006512748.4 → XP_006512811.1 zinc finger and BTB domain-containing protein 24 isoform X1

Conserved Domains (3) summary

COG5048
Location:320 → 455

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:295 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18212
Location:14 → 131

BTB_POZ_ZBTB24_ZNF450; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 24 (ZBTB24)