ZBTB24 zinc finger and BTB domain containing 24
Gene ID: 9841, updated on 5-Mar-2024Gene type: protein coding
Also known as: BIF1; ICF2; PATZ2; ZNF450
- See all available tests in GTR for this gene
- Go to complete Gene record for ZBTB24
- Go to Variation Viewer for ZBTB24 variants
Summary
Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | See labs |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Genomic context
- Location:
- 6q21
- Sequence:
- Chromosome: 6; NC_000006.12 (109462594..109483219, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZBTB24 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZBTB24 @ LOVD
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