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

Gene ID: 140685, updated on 18-Sep-2024

Summary

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
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Genomic context

See ZBTB46 in Genome Data Viewer
Location:
20q13.33
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63743670..63833895, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65563936..65653841, complement)
RS_2024_09 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 ARF 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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.

mRNA and Protein(s)

  1. NM_001369741.1NP_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:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_025224.4NP_079500.2  zinc finger and BTB domain-containing protein 46

    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:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_2024_08

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_011528548.3XP_011526850.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_005260197.5XP_005260254.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_005260198.5XP_005260255.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_006723700.4XP_006723763.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Related
    ENSP00000378536.1, ENST00000395104.5
    Conserved Domains (5) summary
    COG5048
    Location:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_047439901.1XP_047295857.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
  6. XM_005260195.5XP_005260252.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/Swiss-Prot
    E1P5K9, Q5JWJ3, Q6GMV4, Q86UZ6, Q9BQK3, Q9H3Z8, Q9H3Z9
    UniProtKB/TrEMBL
    Q6ZMU8
    Conserved Domains (5) summary
    COG5048
    Location:361486
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:420440
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:418442
    zf-H2C2_5; C2H2-type zinc-finger domain
    pfam13465
    Location:433457
    zf-H2C2_2; Zinc-finger double domain
    cd18230
    Location:10134
    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_017027667.2XP_016883156.1  zinc finger and BTB domain-containing protein 46 isoform X2

    UniProtKB/TrEMBL
    A0A494BZW5
    Related
    ENSP00000498245.1, ENST00000650966.1
  8. XM_011528549.3XP_011526851.1  zinc finger and BTB domain-containing protein 46 isoform X3

    Conserved Domains (2) summary
    smart00225
    Location:32126
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:21126
    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_054322996.1XP_054178971.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/TrEMBL
    Q6ZMU8
  2. XM_054322997.1XP_054178972.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/TrEMBL
    Q6ZMU8
  3. XM_054322999.1XP_054178974.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/TrEMBL
    Q6ZMU8
  4. XM_054322998.1XP_054178973.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/TrEMBL
    Q6ZMU8
  5. XM_054323000.1XP_054178975.1  zinc finger and BTB domain-containing protein 46 isoform X1

    UniProtKB/TrEMBL
    Q6ZMU8
  6. XM_054323001.1XP_054178976.1  zinc finger and BTB domain-containing protein 46 isoform X2

  7. XM_054323002.1XP_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