BBX Gene - HMG-Box Transcription Factor
Comprehensive genomic and functional overview of the BBX gene, encoding a transcriptional regulator involved in chromatin remodeling and circadian rhythm.
Gene Information Card
| Symbol | BBX |
|---|---|
| Full Name | HMG-box containing |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 56987 ncbi.nlm.nih.gov/gene/56987 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q8WY36 |
| OMIM ID | 618089 |
| HGNC ID | 29122 |
| Aliases | HMG2L1, MDS001, bA325O18.1 |
Description
The BBX gene encodes a member of the high-mobility group (HMG) box family of DNA-binding proteins. This protein functions as a transcriptional regulator, potentially involved in chromatin structure modulation and circadian rhythm control. It is ubiquitously expressed with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of transcriptional regulation due to BBX loss-of-function variants | ClinVar, OMIM |
| Autism spectrum disorder | Potential contribution via altered neuronal gene expression | ClinVar |
| Cancer (various) | Dysregulation of BBX expression may affect cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced DNA binding affinity |
| c.250delA (p.Thr84fs) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants lead to truncated protein lacking HMG-box domain, impairing DNA binding and transcriptional activity.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
Missense variants in the HMG-box may interfere with wild-type protein function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • Chromatin binding (GO:0003682) |
| • RNA polymerase II core promoter sequence-specific (GO:0000982) | • Nucleus (GO:0005634) |
| • DNA-templated (GO:0006355) |
Pathways
• Circadian rhythm (Reactome: R-HSA-400253)
• Chromatin organization (Reactome: R-HSA-4839726)
Protein Summary
The BBX protein (UniProt Q8WY36) contains a single HMG-box domain that mediates sequence-specific DNA binding. It is localized to the nucleus and participates in transcriptional regulation, likely through chromatin remodeling. The protein is 359 amino acids long with a molecular mass of ~40 kDa. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBX Knockout HEK293 Cell Line | EDJ-KQ12031 | Human | 56987 | Details Get a Quote |
| BBX Knockout A-549 Cell Line | EDJ-KQ40643 | Human | 56987 | Details Get a Quote |
| BBX Knockout HCT 116 Cell Line | EDJ-KQ40644 | Human | 56987 | Details Get a Quote |
| BBX Knockout HeLa Cell Line | EDJ-KQ40645 | Human | 56987 | Details Get a Quote |
