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ZBTB46 zinc finger and BTB domain containing 46 [ Homo sapiens (human) ]

Gene ID: 140685, updated on 3-Apr-2024

Summary

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Official Symbol
ZBTB46provided by HGNC
Official Full Name
zinc finger and BTB domain containing 46provided by HGNC
Primary source
HGNC:HGNC:16094
See related
Ensembl:ENSG00000130584 MIM:614639; AllianceGenome:HGNC:16094
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BZEL; BTBD4; RINZF; ZNF340; dJ583P15.7; dJ583P15.8
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription 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 regulation of leukocyte differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 6.8), spleen (RPKM 5.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See ZBTB46 in Genome Data Viewer
Location:
20q13.33
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63743670..63833895, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65563936..65653841, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62375023..62462617, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RTEL1-TNFRSF6B readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62330893-62331773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13178 Neighboring gene TNF receptor superfamily member 6b Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62339316-62340276 Neighboring gene ADP ribosylation factor related protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62347847-62348348 Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:62359961-62360460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62363158-62363701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62363702-62364244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62368201-62369118 Neighboring gene LIME1 eExon liver enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13186 Neighboring gene ZBTB46 antisense RNA 2 Neighboring gene SLC2A4 regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62383144-62384094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62384095-62385046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62385047-62385996 Neighboring gene Lck interacting transmembrane adaptor 1 Neighboring gene uncharacterized LOC124904956 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62401989-62402163 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62403756-62404672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62409273-62409810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62433537-62434038 Neighboring gene ZBTB46 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62446368-62447118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62447119-62447869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62460361-62461052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13187 Neighboring gene Sharpr-MPRA regulatory region 10064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62475261-62475938 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62477766-62477915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18253 Neighboring gene chromosome 20 putative open reading frame 181 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62484853-62485706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13189 Neighboring gene uncharacterized LOC112268269 Neighboring gene abhydrolase domain containing 16B

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. Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma. Carrera C, et al. Brain, 2021 Sep 4. PMID 33723576, Free PMC Article
  2. Expression of the transcription factor ZBTB46 distinguishes human histiocytic disorders of classical dendritic cell origin. Satpathy AT, et al. Mod Pathol, 2018 Sep. PMID 29743654, Free PMC Article
  3. Inhibition of the androgen receptor induces a novel tumor promoter, ZBTB46, for prostate cancer metastasis. Chen WY, et al. Oncogene, 2017 Nov 9. PMID 28692046
  4. Androgen deprivation-induced ZBTB46-PTGS1 signaling promotes neuroendocrine differentiation of prostate cancer. Chen WY, et al. Cancer Lett, 2019 Jan. PMID 30312731
  5. ZBTB46 is a shear-sensitive transcription factor inhibiting endothelial cell proliferation via gene expression regulation of cell cycle proteins. Wang Y, et al. Lab Invest, 2019 Mar. PMID 29884909, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PCK1 regulates neuroendocrine differentiation in a positive feedback loop of LIF/ZBTB46 signalling in castration-resistant prostate cancer.
    Title: PCK1 regulates neuroendocrine differentiation in a positive feedback loop of LIF/ZBTB46 signalling in castration-resistant prostate cancer.
  2. Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma.
    Title: Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma.
  3. Nerve growth factor interacts with CHRM4 and promotes neuroendocrine differentiation of prostate cancer and castration resistance.
    Title: Nerve growth factor interacts with CHRM4 and promotes neuroendocrine differentiation of prostate cancer and castration resistance.
  4. ZBTB46 is inversely correlated with SPDEF and is increased in higher tumor grades and small-cell NE prostate cancer (SCNC) patients, which are positively associated with PTGS1. Findings suggest that the induction of ZBTB46 results in increased PTGS1 expression, which is associated with NEPC progression and linked to the dysregulation of the AR-SPDEF pathway.
    Title: Androgen deprivation-induced ZBTB46-PTGS1 signaling promotes neuroendocrine differentiation of prostate cancer.
  5. In vitro results using endothelial cells (ECs) showed that cell confluence and laminar shear stress, both known physiological conditions promoting EC quiescence, led to upregulation of ZBTB46 expression.
    Title: ZBTB46 is a shear-sensitive transcription factor inhibiting endothelial cell proliferation via gene expression regulation of cell cycle proteins.
  6. ZBTB46 is able to clearly define the dendritic cell identity of many previously unclassified histiocytic disease subtypes. All examined cases of Langerhans cell histiocytosis and histiocytic sarcoma expressed ZBTB46, while all cases of blastic plasmacytoid dendritic cell neoplasm, chronic myelomonocytic leukemia, juvenile xanthogranuloma, Rosai-Dorfman disease, and Erdheim-Chester disease failed to express ZBTB46.
    Title: Expression of the transcription factor ZBTB46 distinguishes human histiocytic disorders of classical dendritic cell origin.
  7. Authors report a novel tumor promoter, ZBTB46, which is negatively regulated by AR signaling via microRNA (miR)-1-mediated downregulation. ZBTB46 is associated with malignant prostate cancer and is essential for metastasis.
    Title: Inhibition of the androgen receptor induces a novel tumor promoter, ZBTB46, for prostate cancer metastasis.
  8. A single nucleotide polymorphisn in ZBTB46, rs6062314, is associated with an increased genetic risk for multiple sclerosis.
    Title: MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
EBI GWAS Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13502

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription cis-regulatory region binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in granulocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in macrophage differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of granulocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of leukocyte activation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of macrophage differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of monocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in plasmacytoid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of dendritic 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
  
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
part_of chromatin ISS
Inferred from Sequence or Structural Similarity
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 46
Names
BTB (POZ) domain containing 4
BTB-ZF protein expressed in effector lymphocytes
BTB/POZ domain-containing protein 4
zinc finger protein 340

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)

  1. NM_001369741.1 → NP_001356670.1  zinc finger and BTB domain-containing protein 46

    Status: VALIDATED

    Source sequence(s)
    AL121845, AL158091
    Consensus CDS
    CCDS13538.1
    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Related
    ENSP00000245663.3, ENST00000245663.9
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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)

  2. NM_025224.4 → NP_079500.2  zinc finger and BTB domain-containing protein 46

    See identical proteins and their annotated locations for NP_079500.2

    Status: VALIDATED

    Source sequence(s)
    AL121845
    Consensus CDS
    CCDS13538.1
    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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_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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    63743670..63833895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528548.3 → XP_011526850.1  zinc finger and BTB domain-containing protein 46 isoform X1

    See identical proteins and their annotated locations for XP_011526850.1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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)

  2. XM_005260197.5 → XP_005260254.1  zinc finger and BTB domain-containing protein 46 isoform X1

    See identical proteins and their annotated locations for XP_005260254.1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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)

  3. XM_005260198.5 → XP_005260255.1  zinc finger and BTB domain-containing protein 46 isoform X1

    See identical proteins and their annotated locations for XP_005260255.1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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)

  4. XM_006723700.4 → XP_006723763.1  zinc finger and BTB domain-containing protein 46 isoform X1

    See identical proteins and their annotated locations for XP_006723763.1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Related
    ENSP00000378536.1, ENST00000395104.5
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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)

  5. XM_047439901.1 → XP_047295857.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9

  6. XM_005260195.5 → XP_005260252.1  zinc finger and BTB domain-containing protein 46 isoform X1

    See identical proteins and their annotated locations for XP_005260252.1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361 → 486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420 → 440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418 → 442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433 → 457
    zf-H2C2_2; Zinc-finger double domain
    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)

  7. XM_017027667.2 → XP_016883156.1  zinc finger and BTB domain-containing protein 46 isoform X2

    UniProtKB/TrEMBL
    A0A494BZW5
    Related
    ENSP00000498245.1, ENST00000650966.1

  8. XM_011528549.3 → XP_011526851.1  zinc finger and BTB domain-containing protein 46 isoform X3

    Conserved Domains (2) summary
    smart00225
    Location:32 → 126
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:21 → 126
    BTB; BTB/POZ domain

RNA

  1. XR_936500.3 RNA Sequence

  2. XR_001754167.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    65563936..65653841 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322996.1 → XP_054178971.1  zinc finger and BTB domain-containing protein 46 isoform X1

  2. XM_054322997.1 → XP_054178972.1  zinc finger and BTB domain-containing protein 46 isoform X1

  3. XM_054322999.1 → XP_054178974.1  zinc finger and BTB domain-containing protein 46 isoform X1

  4. XM_054322998.1 → XP_054178973.1  zinc finger and BTB domain-containing protein 46 isoform X1

  5. XM_054323000.1 → XP_054178975.1  zinc finger and BTB domain-containing protein 46 isoform X1

  6. XM_054323001.1 → XP_054178976.1  zinc finger and BTB domain-containing protein 46 isoform X2

  7. XM_054323002.1 → XP_054178977.1  zinc finger and BTB domain-containing protein 46 isoform X3

RNA

  1. XR_008485232.1 RNA Sequence

  2. XR_008485233.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86UZ6.2 GenPept UniProtKB/Swiss-Prot:Q86UZ6

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