Information on ZBTB24
Alt. symbols: ZNF450 | KIAA0441 | BIF1 | PATZ2
Approved name: zinc finger and BTB domain containing 24
Alt. names: zinc finger protein 450 | POZ (BTB) and AT hook containing zinc finger 2
Location: 6q21: 109460632 - 109483239 (-)
Gene type: protein_coding, 10 transcripts.
Scores: LoFtool: 0.532000 | pLI: 0.00020104 | LOEUF: 0.664
Gene Ontology (GO)
- Molecular function: DNA-binding transcription factor activity [GO:0003700]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978]
- Cell component:
- Biological process: regulation of transcription by RNA polymerase II [GO:0006357]
Normal function
Dysfunction and disease
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [MIM:614069] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
ICF2 |
Immunodeficiency-Centromeric Instability-Facial Anomalies 2 | AR |
614069 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ZBTB24
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000230122.4 | 1 | CCDS34509 | Select | protein_coding | 7 | Yes | 5501 | NM_014797 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in ZBTB24
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|