Zbtb46 zinc finger and BTB domain containing 46 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Zbtb46provided by MGI
Official Full Name: zinc finger and BTB domain containing 46provided by MGI
Primary source: MGI:MGI:1919397
See related: Ensembl:ENSMUSG00000027583 AllianceGenome:MGI:1919397
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BZEL; Btbd4; 2610019F01Rik; 4933406L05Rik
Summary: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within negative regulation of leukocyte activation and regulation of leukocyte differentiation. Located in chromatin. Is expressed in several structures, including brown fat; central nervous system; gonad; renal vasculature; and spleen. Orthologous to human ZBTB46 (zinc finger and BTB domain containing 46). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 5.1), lung adult (RPKM 4.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.63 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (181012105..181134776, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (181371009..181493262, complement)

Chromosome 2 - NC_000068.8 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?

ZBTB46 defines and regulates ILC3s that protect the intestine.
Title: ZBTB46 defines and regulates ILC3s that protect the intestine.
ZBTB46(+) ILC3s promote intestinal health.
Title: ZBTB46(+) ILC3s promote intestinal health.
We studied the role of ZBTB46 in endothelial cells (ECs), hypothesizing that it inhibits EC proliferation. Using a model of disturbed flow, we found that ZBTB46 is expressed in arterial ECs in vivo, and is downregulated by disturbed flow.
Title: ZBTB46 is a shear-sensitive transcription factor inhibiting endothelial cell proliferation via gene expression regulation of cell cycle proteins.
Zbtb46 is a repressor of a transcriptional network that is extinguished upon immune stimulation by TLR ligands. This network is in part responsible for maintaining dendritic cells quiescence in the steady state.
Title: Zinc finger transcription factor zDC is a negative regulator required to prevent activation of classical dendritic cells in the steady state.
expression of the Btbd4 defines the classical dendritic cell lineage
Title: Expression of the zinc finger transcription factor zDC (Zbtb46, Btbd4) defines the classical dendritic cell lineage.
Zbtb46 may help enforce dendritic cell identity by restricting responsiveness to non-dendritic cells growth factors and may serve as a useful marker to identify rare dendritic cell progenitors
Title: Zbtb46 expression distinguishes classical dendritic cells and their committed progenitors from other immune lineages.

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Variation

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Alleles

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

Endonuclease-mediated (7)
Targeted (9) 1 citation

General gene information

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Markers

07.MMHAP64FLC1.seq (e-PCR)
- UniSTS:122898

RH143312 (e-PCR)
- UniSTS:232559

NoName (e-PCR)
- UniSTS:234631

18.MMHAP5FRF9.seq (e-PCR)
- UniSTS:123388

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of dendritic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of granulocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of macrophage differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of dendritic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of granulocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of leukocyte activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of macrophage differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of monocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of plasmacytoid dendritic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of dendritic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
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 46

Names: BTB (POZ) domain containing 4; BTB-ZF protein expressed in effector lymphocytes; BTB/POZ domain-containing protein 4

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_027656.3 → NP_081932.1 zinc finger and BTB domain-containing protein 46 isoform 1

See identical proteins and their annotated locations for NP_081932.1

Status: VALIDATED

Description

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

Source sequence(s)

AL928965, AL929094

Consensus CDS

CCDS50854.1

UniProtKB/Swiss-Prot

A2AUD2, Q3U2R2, Q8BID6, Q9D0G6, Q9D492

Related

ENSMUSP00000137014.2, ENSMUST00000180222.8

Conserved Domains (4) summary

sd00017
Location:420 → 440

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18230
Location:10 → 134

BTB_POZ_ZBTB46; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 46 (ZBTB46)

pfam13465
Location:433 → 457

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:418 → 442

zf-H2C2_5; C2H2-type zinc-finger domain
NM_028125.3 → NP_082401.1 zinc finger and BTB domain-containing protein 46 isoform 2

See identical proteins and their annotated locations for NP_082401.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 3' terminus, compared to variant 1, that results in a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK011461, AL929094

Consensus CDS

CCDS17212.1

UniProtKB/Swiss-Prot

Q8BID6

Related

ENSMUSP00000084672.4, ENSMUST00000087409.10

Conserved Domains (1) summary

cd18230
Location:10 → 134

BTB_POZ_ZBTB46; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 46 (ZBTB46)

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_000068.8 Reference GRCm39 C57BL/6J

Range

181012105..181134776 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006500714.5 → XP_006500777.1 zinc finger and BTB domain-containing protein 46 isoform X2

Conserved Domains (4) summary

sd00017
Location:420 → 440

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18230
Location:10 → 134

BTB_POZ_ZBTB46; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 46 (ZBTB46)

pfam13465
Location:433 → 457

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:418 → 442

zf-H2C2_5; C2H2-type zinc-finger domain
XM_006500713.4 → XP_006500776.1 zinc finger and BTB domain-containing protein 46 isoform X1

See identical proteins and their annotated locations for XP_006500776.1

UniProtKB/Swiss-Prot

A2AUD2, Q3U2R2, Q8BID6, Q9D0G6, Q9D492

Conserved Domains (4) summary

sd00017
Location:420 → 440

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18230
Location:10 → 134

BTB_POZ_ZBTB46; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 46 (ZBTB46)

pfam13465
Location:433 → 457

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:418 → 442

zf-H2C2_5; C2H2-type zinc-finger domain
XM_006500712.5 → XP_006500775.1 zinc finger and BTB domain-containing protein 46 isoform X1

Related

ENSMUSP00000029106.7, ENSMUST00000029106.13

Conserved Domains (4) summary

sd00017
Location:420 → 440

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18230
Location:10 → 134

BTB_POZ_ZBTB46; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 46 (ZBTB46)

pfam13465
Location:433 → 457

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:418 → 442

zf-H2C2_5; C2H2-type zinc-finger domain
XM_006500715.5 → XP_006500778.1 zinc finger and BTB domain-containing protein 46 isoform X3

Conserved Domains (1) summary

cd18230
Location:10 → 134

BTB_POZ_ZBTB46; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 46 (ZBTB46)