ZBTB17
protein-codingzinc finger and BTB domain containing 17, the group of Zinc fingers C2H2-type|BTB domain containing
Gene summary
This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
- ZNF151
- ZNF60
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~34.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ZBTB17 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003443.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 6 | 1 | 9 | ||
| missense | 76 | 2 | 78 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 82 | 8 | 1 | 91 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003434.2 | 14 | MANE Select | |
| Ensembl | ENSP00000364895.4 | 14 | MANE Select | |
| RefSeq | NP_001229813.1 | 13 | Standard | |
| RefSeq | NP_001274532.1 | 14 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cell cycle - Homo sapiens (human)
- Small cell lung cancer - Homo sapiens (human)
- Pathways in cancer - Homo sapiens (human)
- Transcriptional misregulation in cancer - Homo sapiens (human)
- XBP1(S) activates chaperone genes
Biological Process
- gastrulation with mouth forming second
- ectoderm development
- negative regulation of cell population proliferation
- IRE1-mediated unfolded protein response
- negative regulation of cell cycle
Molecular Function
- RNA polymerase II proximal promoter sequence-specific DNA binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- core promoter binding
- transcription coactivator binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
Cellular Component
- nucleoplasm
- protein-containing complex
- protein-DNA complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000375743
- Coding exons
- 14
- Length
- 34264
- Individuals with no LoFs
- 125737
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 11
- Defined
- 125748
- p
- 0.0000437
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 3.73 | 289 | 531 | 0.544 | 0.0000363 | 5244 |
| Missense (PolyPhen) | 145 | 288.45 | 0.50269 | 2908 | ||
| Synonymous | 1.66 | 207 | 240 | 0.864 | 0.0000198 | 1539 |
| Loss of Function | 4.84 | 6 | 38.3 | 0.157 | 0.00000189 | 420 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000064 | 0.000062 | rare |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000045 | 0.000044 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 (PubMed:25245946). {ECO:0000269|PubMed:16142238, ECO:0000269|PubMed:19164764, ECO:0000269|PubMed:25245946, ECO:0000269|PubMed:9308237, ECO:0000269|PubMed:9312026}.;
Recessive Scores
- pRec
- 0.146
Intolerance Scores
- LoFtool
- 0.433
- RVIS EVS
- -0.69
- RVIS percentile EVS
- 15.2
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.952
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |