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

Gene ID: 140685, updated on 5-Jul-2021

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
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (63743670..63832332, complement)
105.20201022 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 ADP ribosylation factor related protein 1 Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene LIME1 eExon liver enhancer Neighboring gene SLC2A4 regulator Neighboring gene Lck interacting transmembrane adaptor 1 Neighboring gene ZBTB46 antisense RNA 1 Neighboring gene chromosome 20 open reading frame 181 Neighboring gene uncharacterized LOC112268269 Neighboring gene abhydrolase domain containing 16B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13502

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_001369741.1NP_001356670.1  zinc finger and BTB domain-containing protein 46

    Status: VALIDATED

    Source sequence(s)
    AL121845, AL158091
    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

    See identical proteins and their annotated locations for NP_079500.2

    Status: VALIDATED

    Source sequence(s)
    AL121845
    Consensus CDS
    CCDS13538.1
    UniProtKB/Swiss-Prot
    Q86UZ6
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    63743670..63832332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528548.2XP_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
    Q86UZ6
    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_005260197.4XP_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
    Q86UZ6
    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_005260198.4XP_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
    Q86UZ6
    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)
  4. XM_006723700.3XP_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
    Q86UZ6
    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_005260195.4XP_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
    Q86UZ6
    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)
  6. XM_017027667.1XP_016883156.1  zinc finger and BTB domain-containing protein 46 isoform X2

    Related
    ENSP00000498245.1, ENST00000650966.1
  7. XM_011528549.2XP_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_936500.2 RNA Sequence

  2. XR_001754167.1 RNA Sequence

  3. XR_936501.2 RNA Sequence

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