ZBTB7B
zinc finger and BTB domain containing 7B, the group of Zinc fingers C2H2-type|BTB domain containing
Basic information
Region (hg38): 1:155002630-155018523
Previous symbols: [ "ZFP67" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB7B gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 6 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 4 | 2 |
Variants in ZBTB7B
This is a list of pathogenic ClinVar variants found in the ZBTB7B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-155015023-G-T | Likely benign (Nov 01, 2022) | |||
| 1-155015050-C-T | Benign (Nov 09, 2018) | |||
| 1-155015230-G-A | Benign/Likely benign (Jan 01, 2023) | |||
| 1-155015293-C-T | Likely benign (Nov 01, 2022) | |||
| 1-155015410-G-A | Likely benign (Jan 01, 2023) | |||
| 1-155015779-C-A | Benign (Jul 02, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ZBTB7B | protein_coding | protein_coding | ENST00000417934 | 3 | 15872 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.344 | 0.656 | 125736 | 0 | 3 | 125739 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.61 | 231 | 373 | 0.620 | 0.0000237 | 3691 |
| Missense in Polyphen | 53 | 123.33 | 0.42974 | 1083 | ||
| Synonymous | 1.27 | 137 | 157 | 0.871 | 0.0000101 | 1248 |
| Loss of Function | 2.98 | 4 | 17.5 | 0.229 | 0.00000105 | 180 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000655 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000176 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. Development of immature T-cell precursors (thymocytes) to either the CD4 helper or CD8 killer T-cell lineages correlates precisely with their T-cell receptor specificity for major histocompatibility complex class II or class I molecules, respectively. Cross-antagonism between ZBTB7B and CBF complexes are determinative to CD4 versus CD8 cell fate decision. Suppresses RUNX3 expression and imposes CD4+ lineage fate by inducing the SOCS suppressors of cytokine signaling. induces, as a transcriptional activator, SOCS genes expression which represses RUNX3 expression and promotes the CD4+ lineage fate. During CD4 lineage commitment, associates with multiple sites at the CD8 locus, acting as a negative regulator of the CD8 promoter and enhancers by epigenetic silencing through the recruitment of class II histone deacetylases, such as HDAC4 and HDAC5, to these loci. Regulates the development of IL17-producing CD1d-restricted naural killer (NK) T cells. Also functions as an important metabolic regulator in the lactating mammary glands. Critical feed-forward regulator of insulin signaling in mammary gland lactation, directly regulates expression of insulin receptor substrate-1 (IRS-1) and insulin-induced Akt-mTOR-SREBP signaling (By similarity). Transcriptional repressor of the collagen COL1A1 and COL1A2 genes. May also function as a repressor of fibronectin and possibly other extracellular matrix genes (PubMed:9370309). Potent driver of brown fat development, thermogenesis and cold-induced beige fat formation. Recruits the brown fat lncRNA 1 (Blnc1):HNRNPU ribonucleoprotein complex to activate thermogenic gene expression in brown and beige adipocytes (By similarity). {ECO:0000250|UniProtKB:Q64321, ECO:0000269|PubMed:9370309}.;
- Pathway
- Ectoderm Differentiation
(Consensus)
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- loftool
- rvis_EVS
- -0.64
- rvis_percentile_EVS
- 16.53
Haploinsufficiency Scores
- pHI
- 0.356
- hipred
- N
- hipred_score
- 0.455
- ghis
- 0.634
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.989
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zbtb7b
- Phenotype
- hematopoietic system phenotype; normal phenotype; reproductive system phenotype; immune system phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;NK T cell differentiation;transcription by RNA polymerase II;ectoderm development;lactation;positive regulation of gene expression;negative regulation of gene expression;positive regulation of histone deacetylation;response to insulin;positive regulation of CD4-positive, alpha-beta T cell differentiation;negative regulation of CD8-positive, alpha-beta T cell differentiation;positive regulation of insulin receptor signaling pathway;negative regulation of NK T cell proliferation;regulation of transcription involved in cell fate commitment;interleukin-17 secretion;positive regulation of brown fat cell differentiation;positive regulation of cold-induced thermogenesis;adaptive thermogenesis;negative regulation of T-helper 17 cell differentiation;positive regulation of SREBP signaling pathway
- Cellular component
- nucleus;nucleoplasm
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;enhancer sequence-specific DNA binding;protein binding;protein homodimerization activity;histone deacetylase binding;metal ion binding