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ZBTB20 zinc finger and BTB domain containing 20 [ Homo sapiens (human) ]

Gene ID: 26137, updated on 1-Jun-2020

Summary

Official Symbol
ZBTB20provided by HGNC
Official Full Name
zinc finger and BTB domain containing 20provided by HGNC
Primary source
HGNC:HGNC:13503
See related
Ensembl:ENSG00000181722 MIM:606025
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOF; DPZF; PRIMS; ODA-8S; ZNF288
Summary
This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in kidney (RPKM 4.0), ovary (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See ZBTB20 in Genome Data Viewer
Location:
3q13.31
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (114314500..115147288, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (114033348..114866132, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986115 Neighboring gene ZNF80-LTR promoter Neighboring gene family with sequence similarity 214 member B pseudogene Neighboring gene zinc finger protein 80 Neighboring gene ZBTB20 antisense RNA 1 Neighboring gene T cell immunoreceptor with Ig and ITIM domains Neighboring gene microRNA 568 Neighboring gene ZBTB20 antisense RNA 5 Neighboring gene VISTA enhancer hs253 Neighboring gene microRNA 4796 Neighboring gene ZBTB20 antisense RNA 3 Neighboring gene Y-box binding protein 1 pseudogene 3 Neighboring gene ZBTB20 antisense RNA 4 Neighboring gene uncharacterized LOC101926886 Neighboring gene VISTA enhancer hs1648 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 2

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
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
MedGen: C0796121 OMIM: 259050 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1.
NHGRI GWA Catalog
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13240, FLJ26458, DKFZp566F123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glycolytic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interferon-beta production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interleukin-6 production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of immune system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
zinc finger and BTB domain-containing protein 20
Names
BTB/POZ zinc finger protein DPZF
dendritic cell-derived BTB/POZ zinc finger
zinc finger protein 288

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_052992.1 RefSeqGene

    Range
    4993..837775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164342.2NP_001157814.1  zinc finger and BTB domain-containing protein 20 isoform 1

    See identical proteins and their annotated locations for NP_001157814.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC093010, AC131152, AF139460, BC090936, BG993862
    Consensus CDS
    CCDS54626.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Related
    ENSP00000419153.1, ENST00000474710.5
    Conserved Domains (6) summary
    PHA03169
    Location:352442
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:634656
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:94196
    BTB; BTB/POZ domain
    pfam09606
    Location:378571
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam13465
    Location:648673
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001164343.2NP_001157815.1  zinc finger and BTB domain-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001157815.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC093010, AC131152, BC090936, BF327758
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Related
    ENSP00000420324.1, ENST00000462705.5
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001164344.3NP_001157816.1  zinc finger and BTB domain-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001157816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC093010, AC131152, AL050276, DB131355
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Related
    ENSP00000417307.1, ENST00000464560.5
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001164345.3NP_001157817.1  zinc finger and BTB domain-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001157817.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC093010, AC131152, AK225788, BC090936
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Related
    ENSP00000419902.1, ENST00000471418.5
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  5. NM_001164346.2NP_001157818.1  zinc finger and BTB domain-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001157818.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC093010, AC131152, AK315307, BC090936, DB268190
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    UniProtKB/TrEMBL
    B2RCW4
    Related
    ENSP00000377375.2, ENST00000393785.6
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  6. NM_001164347.2NP_001157819.1  zinc finger and BTB domain-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001157819.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC093010, AC131152, BC029041, BC090936
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Related
    ENSP00000418092.1, ENST00000481632.5
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  7. NM_001348800.3NP_001335729.1  zinc finger and BTB domain-containing protein 20 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1 and, like variant 1, encodes isoform 1.
    Source sequence(s)
    AC055739, AC069063, AC069506, AC078986, AC083886, AC092915, AC093010, AC131152
    Consensus CDS
    CCDS54626.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Conserved Domains (6) summary
    PHA03169
    Location:352442
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:634656
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:94196
    BTB; BTB/POZ domain
    pfam09606
    Location:378571
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam13465
    Location:648673
    zf-H2C2_2; Zinc-finger double domain
  8. NM_001348801.2NP_001335730.1  zinc finger and BTB domain-containing protein 20 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC055739, AC069063, AC069506, AC078986, AC083886, AC092915, AC093010, AC131152
    Consensus CDS
    CCDS2981.1
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  9. NM_001348802.2NP_001335731.1  zinc finger and BTB domain-containing protein 20 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC055739, AC069063, AC069506, AC078986, AC083886, AC092915, AC093010, AC131152
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  10. NM_001348803.2NP_001335732.1  zinc finger and BTB domain-containing protein 20 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1 and, like variant 1, encodes isoform 1.
    Source sequence(s)
    AC055739, AC069063, AC069506, AC078986, AC083886, AC092915, AC093010, AC131152
    Consensus CDS
    CCDS54626.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Conserved Domains (6) summary
    PHA03169
    Location:352442
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:634656
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:94196
    BTB; BTB/POZ domain
    pfam09606
    Location:378571
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam13465
    Location:648673
    zf-H2C2_2; Zinc-finger double domain
  11. NM_001348804.2NP_001335733.1  zinc finger and BTB domain-containing protein 20 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC055739, AC069063, AC069506, AC078986, AC083886, AC092915, AC093010, AC131152
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  12. NM_001348805.2NP_001335734.1  zinc finger and BTB domain-containing protein 20 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC055739, AC069063, AC069506, AC078986, AC083886, AC092915, AC093010, AC131152
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain
  13. NM_015642.6NP_056457.3  zinc finger and BTB domain-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_056457.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC069063, AC093010, AC131152, BC090936, BX647778
    Consensus CDS
    CCDS2981.1
    UniProtKB/Swiss-Prot
    Q9HC78
    Related
    ENSP00000349803.3, ENST00000357258.8
    Conserved Domains (6) summary
    PHA03169
    Location:279369
    PHA03169; hypothetical protein; Provisional
    COG5048
    Location:432574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:561583
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:21123
    BTB; BTB/POZ domain
    pfam13465
    Location:575600
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_121662.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three exons and contains mutliple alternate 5' exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AC069506, AC093010, AC131152, CB164748, DA120543

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    114314500..115147288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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