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Aliases for ZBTB20 Gene

Aliases for ZBTB20 Gene

  • Zinc Finger And BTB Domain Containing 20 2 3 5
  • Zinc Finger Protein 288 2 3 4
  • ZNF288 3 4
  • DPZF 3 4
  • Zinc Finger And BTB Domain-Containing Protein 20 3
  • Dendritic-Derived BTB/POZ Zinc Finger Protein 4
  • Dendritic Cell-Derived BTB/POZ Zinc Finger 3
  • BTB/POZ Zinc Finger Protein DPZF 3
  • ODA-8S 3
  • PRIMS 3
  • HOF 3

External Ids for ZBTB20 Gene

Previous HGNC Symbols for ZBTB20 Gene

  • ZNF288

Previous GeneCards Identifiers for ZBTB20 Gene

  • GC03M115540
  • GC03M114056
  • GC03M111429

Summaries for ZBTB20 Gene

Entrez Gene Summary for ZBTB20 Gene

  • 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]

GeneCards Summary for ZBTB20 Gene

ZBTB20 (Zinc Finger And BTB Domain Containing 20) is a Protein Coding gene. Diseases associated with ZBTB20 include Primrose Syndrome and Juvenile Pilocytic Astrocytoma. GO annotations related to this gene include transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is ZBTB45.

UniProtKB/Swiss-Prot for ZBTB20 Gene

  • May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses.

Gene Wiki entry for ZBTB20 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB20 Gene

Genomics for ZBTB20 Gene

Regulatory Elements for ZBTB20 Gene

Enhancers for ZBTB20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G115091 1.1 Ensembl ENCODE dbSUPER 11.9 +55.0 54955 1.0 CTCF ZNF654 ZNF362 TRIM22 MAX RAD21 YY1 STAT3 SMC3 DEK ZBTB20 GC03P115085 ZBTB20-AS4
GH03G115070 1.2 Ensembl ENCODE dbSUPER 10.7 +75.4 75360 3.1 TBP TAF1 NFYA JUN CEBPB EP300 ATF2 JUND NFYB STAT3 ZBTB20 GC03P115085 GC03P114935
GH03G115098 1.1 ENCODE dbSUPER 11.6 +47.2 47236 3.1 TBP PKNOX1 FOXA2 ZSCAN4 ZFP64 ZNF48 RAD21 YY1 ZNF302 ZNF366 ZBTB20 ENSG00000259976 ZBTB20-AS4 GC03P115085
GH03G114408 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +736.5 736497 5.0 CTCF JUN RAD21 RARA YY1 FOSL1 GATA2 EGR1 FOS MAFK ZBTB20 GC03P114421 ZBTB20-AS1
GH03G115061 0.8 ENCODE dbSUPER 10.3 +84.6 84566 1.6 MAFF JUND HNF4A FOS MAFK TCF7L2 ZBTB20 GC03P115085 GC03P114935
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZBTB20 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000156861 -20 3001 PKNOX1 FOXA2 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207

Genomic Location for ZBTB20 Gene

Chromosome:
3
Start:
114,314,500 bp from pter
End:
115,147,280 bp from pter
Size:
832,781 bases
Orientation:
Minus strand

Genomic View for ZBTB20 Gene

Genes around ZBTB20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB20 Gene

Proteins for ZBTB20 Gene

  • Protein details for ZBTB20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC78-ZBT20_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 20
    Protein Accession:
    Q9HC78
    Secondary Accessions:
    • Q63HP6
    • Q8N6R5
    • Q9Y410

    Protein attributes for ZBTB20 Gene

    Size:
    741 amino acids
    Molecular mass:
    81083 Da
    Quaternary structure:
    • Can homodimerize. Binds to DNA.

    Alternative splice isoforms for ZBTB20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB20 Gene

Post-translational modifications for ZBTB20 Gene

No data available for DME Specific Peptides for ZBTB20 Gene

Domains & Families for ZBTB20 Gene

Gene Families for ZBTB20 Gene

Protein Domains for ZBTB20 Gene

Suggested Antigen Peptide Sequences for ZBTB20 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ZBTB20: view

No data available for UniProtKB/Swiss-Prot for ZBTB20 Gene

Function for ZBTB20 Gene

Molecular function for ZBTB20 Gene

UniProtKB/Swiss-Prot Function:
May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses.

Gene Ontology (GO) - Molecular Function for ZBTB20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB20: view
genes like me logo Genes that share phenotypes with ZBTB20: view

Human Phenotype Ontology for ZBTB20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZBTB20 Gene

MGI Knock Outs for ZBTB20:

Animal Model Products

CRISPR Products

miRNA for ZBTB20 Gene

miRTarBase miRNAs that target ZBTB20

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZBTB20 Gene

Localization for ZBTB20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB20 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZBTB20 gene
Compartment Confidence
nucleus 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ZBTB20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZBTB20: view

Pathways & Interactions for ZBTB20 Gene

SuperPathways for ZBTB20 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010629 negative regulation of gene expression IEA --
GO:0032728 positive regulation of interferon-beta production IEA --
genes like me logo Genes that share ontologies with ZBTB20: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB20 Gene

Drugs & Compounds for ZBTB20 Gene

No Compound Related Data Available

Transcripts for ZBTB20 Gene

Unigene Clusters for ZBTB20 Gene

Zinc finger and BTB domain containing 20:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB20 Gene

No ASD Table

Relevant External Links for ZBTB20 Gene

GeneLoc Exon Structure for
ZBTB20
ECgene alternative splicing isoforms for
ZBTB20

Expression for ZBTB20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZBTB20 Gene

mRNA differential expression in normal tissues according to GTEx for ZBTB20 Gene

This gene is overexpressed in Testis (x16.4).

Protein differential expression in normal tissues from HIPED for ZBTB20 Gene

This gene is overexpressed in Ovary (26.4), Adrenal (17.0), and Gallbladder (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZBTB20 Gene



Protein tissue co-expression partners for ZBTB20 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB20 Gene:

ZBTB20

SOURCE GeneReport for Unigene cluster for ZBTB20 Gene:

Hs.655108

mRNA Expression by UniProt/SwissProt for ZBTB20 Gene:

Q9HC78-ZBT20_HUMAN
Tissue specificity: Expressed in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver.

Evidence on tissue expression from TISSUES for ZBTB20 Gene

  • Liver(4.3)
  • Intestine(4.2)
  • Kidney(4.2)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ZBTB20: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ZBTB20 Gene

Orthologs for ZBTB20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB20 34 35
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia ZBTB20 34 35
  • 95.73 (n)
cow
(Bos Taurus)
Mammalia ZBTB20 34 35
  • 94.6 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB20 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zbtb20 34 16 35
  • 92.85 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb20 34
  • 92.17 (n)
chicken
(Gallus gallus)
Aves ZBTB20 34 35
  • 83.11 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB20 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb20 34
  • 78.41 (n)
zebrafish
(Danio rerio)
Actinopterygii zbtb20 34 35
  • 71.53 (n)
Dr.27779 34
Species where no ortholog for ZBTB20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZBTB20 Gene

ENSEMBL:
Gene Tree for ZBTB20 (if available)
TreeFam:
Gene Tree for ZBTB20 (if available)

Paralogs for ZBTB20 Gene

Variants for ZBTB20 Gene

Sequence variations from dbSNP and Humsavar for ZBTB20 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs483353064 Pathogenic, Primrose syndrome (PRIMS) [MIM:259050] 114,350,310(-) CCGCC(A/C)AACAG intron-variant, upstream-variant-2KB, reference, missense
rs483353066 Pathogenic, Primrose syndrome (PRIMS) [MIM:259050] 114,350,291(-) CAAGC(A/G)CATGT intron-variant, upstream-variant-2KB, reference, missense
rs483353068 Pathogenic, Primrose syndrome (PRIMS) [MIM:259050] 114,339,426(-) AACAG(C/G)TGAGA nc-transcript-variant, reference, missense
rs483353070 Pathogenic, Primrose syndrome (PRIMS) [MIM:259050] 114,339,370(-) ATTAC(C/T)TTATC nc-transcript-variant, reference, missense
rs1057519435 Pathogenic 114,350,292(-) TCAAG(C/T)ACATG intron-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ZBTB20 Gene

Variant ID Type Subtype PubMed ID
dgv107e203 CNV loss 21179565
dgv2581n106 CNV deletion 24896259
dgv77n68 CNV gain 17160897
dgv8512n54 CNV loss 21841781
dgv8513n54 CNV loss 21841781
dgv8514n54 CNV loss 21841781
dgv8515n54 CNV loss 21841781
dgv881e199 CNV deletion 23128226
esv1002866 CNV deletion 20482838
esv1006341 CNV deletion 20482838
esv1548513 CNV deletion 17803354
esv2097985 CNV deletion 18987734
esv21675 CNV loss 19812545
esv22752 CNV loss 19812545
esv2421899 CNV deletion 20811451
esv2438147 CNV deletion 19546169
esv2505508 CNV loss 19546169
esv2535300 CNV insertion 19546169
esv2572379 CNV deletion 19546169
esv2577063 CNV deletion 19546169
esv2599243 CNV deletion 19546169
esv2656651 CNV deletion 23128226
esv2664589 CNV deletion 23128226
esv2671955 CNV deletion 23128226
esv2725787 CNV deletion 23290073
esv2725788 CNV deletion 23290073
esv2725789 CNV deletion 23290073
esv29079 CNV loss 19812545
esv3303516 CNV mobile element insertion 20981092
esv3308657 CNV mobile element insertion 20981092
esv3323404 CNV insertion 20981092
esv3371389 CNV insertion 20981092
esv3426466 CNV insertion 20981092
esv3433190 CNV insertion 20981092
esv3562407 CNV deletion 23714750
esv3562408 CNV deletion 23714750
esv3562410 CNV deletion 23714750
esv3568965 CNV loss 25503493
esv3597457 CNV loss 21293372
esv3597458 CNV loss 21293372
esv3597459 CNV loss 21293372
esv3597461 CNV loss 21293372
esv3597462 CNV loss 21293372
esv3597466 CNV loss 21293372
esv3597467 CNV loss 21293372
esv3597468 CNV loss 21293372
esv3893766 CNV loss 25118596
esv3893769 CNV loss 25118596
esv8517 CNV loss 19470904
esv998582 CNV deletion 20482838
nsv1005542 CNV loss 25217958
nsv1008941 CNV gain 25217958
nsv10308 CNV loss 18304495
nsv1074617 CNV deletion 25765185
nsv1136764 CNV deletion 24896259
nsv1149086 CNV deletion 26484159
nsv1160969 CNV duplication 26073780
nsv1160971 OTHER complex 26073780
nsv237808 CNV deletion 16902084
nsv3952 CNV insertion 18451855
nsv3953 CNV deletion 18451855
nsv433365 CNV loss 18776910
nsv436390 CNV deletion 17901297
nsv437337 CNV loss 16327808
nsv437878 CNV loss 16468122
nsv442871 CNV loss 18776908
nsv476252 CNV novel sequence insertion 20440878
nsv499011 CNV loss 21111241
nsv514164 CNV loss 21397061
nsv521467 CNV loss 19592680
nsv591327 CNV loss 21841781
nsv591331 CNV loss 21841781
nsv591334 CNV loss 21841781
nsv829679 CNV gain 17160897
nsv829683 CNV gain 17160897
nsv955327 CNV duplication 24416366
nsv956807 CNV deletion 24416366

Variation tolerance for ZBTB20 Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB20 Gene

Human Gene Mutation Database (HGMD)
ZBTB20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB20 Gene

Disorders for ZBTB20 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZBTB20 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primrose syndrome
  • ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
juvenile pilocytic astrocytoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZBT20_HUMAN
  • Primrose syndrome (PRIMS) [MIM:259050]: A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting. {ECO:0000269 PubMed:25017102}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZBTB20

Genetic Association Database (GAD)
ZBTB20
Human Genome Epidemiology (HuGE) Navigator
ZBTB20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB20
genes like me logo Genes that share disorders with ZBTB20: view

No data available for Genatlas for ZBTB20 Gene

Publications for ZBTB20 Gene

  1. Identification and characterization of DPZF, a novel human BTB/POZ zinc finger protein sharing homology to BCL-6. (PMID: 11352661) Zhang W. … Cao X. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 64
  2. Mutations in ZBTB20 cause Primrose syndrome. (PMID: 25017102) Cordeddu V. … Hennekam R.C. (Nat. Genet. 2014) 3 4 64
  3. A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1. (PMID: 22037551) Shi Y. … Shen H. (Nat. Genet. 2011) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for ZBTB20 Gene

Sources for ZBTB20 Gene

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