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

    Gene ID: 140685, updated on 3-Apr-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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    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
    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

    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

      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: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_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_011528548.3XP_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: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

      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: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

      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: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

      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: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
    6. XM_005260195.5XP_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: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

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

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

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

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

    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