Human Gene ZBTB24 (ENST00000230122.4) from GENCODE V44
Description: Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. (from RefSeq NM_014797) RefSeq Summary (NM_014797): This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]. Gencode Transcript: ENST00000230122.4 Gencode Gene: ENSG00000112365.6 Transcript (Including UTRs) Position: hg38 chr6:109,462,594-109,483,219 Size: 20,626 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr6:109,465,851-109,482,026 Size: 16,176 Coding Exon Count: 6
ID:ZBT24_HUMAN DESCRIPTION: RecName: Full=Zinc finger and BTB domain-containing protein 24; AltName: Full=Zinc finger protein 450; FUNCTION: May be involved in BMP2-induced transcription (By similarity). INTERACTION: Q99750:MDFI; NbExp=3; IntAct=EBI-744471, EBI-724076; SUBCELLULAR LOCATION: Nucleus (Potential). TISSUE SPECIFICITY: Widely expressed, with highest levels in naive B-cells. DEVELOPMENTAL STAGE: Regulated expression during B-cell differentiation. Low expression in pro-B cells, pre-B I cells and large pre-B II cells. Levels peak in small pre-B II and then slightly decrease in immature B-cells. Low levels in CD34+ umbilical cord blood cells. DISEASE: Defects in ZBTB24 are the cause of immunodeficiency- centromeric instability-facial anomalies syndrome type 2 (ICF2) [MIM:614069]. A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 1 A.T hook DNA-binding domain. SIMILARITY: Contains 1 BTB (POZ) domain. SIMILARITY: Contains 8 C2H2-type zinc fingers. SEQUENCE CAUTION: Sequence=BAA23713.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43167
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0005515 protein binding GO:0046872 metal ion binding
Biological Process: GO:0002244 hematopoietic progenitor cell differentiation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter
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