ZBTB20
Zinc finger and BTB domain-containing protein 20
Also known as: DKFZp566F123, DPZF, ODA-8S, ZBT20_HUMAN, ZNF288
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HC78
- Gene
- ZBTB20
- Ensembl
- ENSG00000181722
- Chromosome
- 3
- Canonical length
- 741 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
741 residues, UniProt reviewed canonical sequence.
>Q9HC78|ZBTB20
1 MLERKKPKTA ENQKASEENE ITQPGGSSAK PGLPCLNFEA VLSPDPALIH STHSLTNSHA
61 HTGSSDCDIS CKGMTERIHS INLHNFSNSV LETLNEQRNR GHFCDVTVRI HGSMLRAHRC
121 VLAAGSPFFQ DKLLLGYSDI EIPSVVSVQS VQKLIDFMYS GVLRVSQSEA LQILTAASIL
181 QIKTVIDECT RIVSQNVGDV FPGIQDSGQD TPRGTPESGT SGQSSDTESG YLQSHPQHSV
241 DRIYSALYAC SMQNGSGERS FYSGAVVSHH ETALGLPRDH HMEDPSWITR IHERSQQMER
301 YLSTTPETTH CRKQPRPVRI QTLVGNIHIK QEMEDDYDYY GQQRVQILER NESEECTEDT
361 DQAEGTESEP KGESFDSGVS SSIGTEPDSV EQQFGPGAAR DSQAEPTQPE QAAEAPAEGG
421 PQTNQLETGA SSPERSNEVE MDSTVITVSN SSDKSVLQQP SVNTSIGQPL PSTQLYLRQT
481 ETLTSNLRMP LTLTSNTQVI GTAGNTYLPA LFTTQPAGSG PKPFLFSLPQ PLAGQQTQFV
541 TVSQPGLSTF TAQLPAPQPL ASSAGHSTAS GQGEKKPYEC TLCNKTFTAK QNYVKHMFVH
601 TGEKPHQCSI CWRSFSLKDY LIKHMVTHTG VRAYQCSICN KRFTQKSSLN VHMRLHRGEK
661 SYECYICKKK FSHKTLLERH VALHSASNGT PPAGTPPGAR AGPPGVVACT EGTTYVCSVC
721 PAKFDQIEQF NDHMRMHVSD GLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ZBTB20 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- testis: 12 nTPM
- epididymis: 9.2 nTPM
- tongue: 8.3 nTPM
- retina: 8.2 nTPM
- skeletal muscle: 7.7 nTPM
- liver: 5.2 nTPM
Single-cell type
- corticotrophs: 4,323 nCPM
- renal collecting duct intercalated cells: 4,215 nCPM
- myonuclei: 4,135 nCPM
- proximal tubule cells: 3,774 nCPM
- bergmann glia: 3,501 nCPM
- lactotrophs: 3,159 nCPM
Immune cell
- memory B-cell: 16 nTPM
- basophil: 14 nTPM
- naive B-cell: 11 nTPM
- naive CD4 T-cell: 8.4 nTPM
- gdT-cell: 6.9 nTPM
- naive CD8 T-cell: 6.9 nTPM
Brain region
- cerebellum: 169 nTPM
- hippocampal formation: 167 nTPM
- medulla oblongata: 135 nTPM
- basal ganglia: 130 nTPM
- midbrain: 129 nTPM
- white matter: 129 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ZBTB20.
Disease | AllUniProt
Conditions ZBTB20 is implicated in, by any mechanism.
- Primrose syndrome (PRIMS) MIM:259050
Disease | GeneticClinVar
89 pathogenic / likely-pathogenic of 465 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primrose syndrome
- Inborn genetic diseases
- Intellectual disability
- Neurodevelopmental disorder
- ZBTB20-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 4.27
- DepMap mean gene effect
- 0.14
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to glucose stimulus
- lipid homeostasis
- negative regulation of gene expression
- negative regulation of transcription by RNA polymerase II
- positive regulation of glycolytic process
- positive regulation of interferon-beta production
- positive regulation of interleukin-6 production
- positive regulation of lipid biosynthetic process
- positive regulation of tumor necrosis factor production
- regulation of cytokine production
- regulation of immune system process
Molecular functions
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ZBTB20 as an antibody target. Whether an autoantibody or antibody against ZBTB20 could matter depends on whether native ZBTB20 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ZBTB20 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ZBTB20 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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