BICRAL Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the BICRAL gene, including its genomic context, protein function, expression patterns, and associated diseases.
Gene Information Card
| Symbol | BICRAL |
|---|---|
| Full Name | BRD4 interacting chromatin remodeling complex associated protein |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 84248 ncbi.nlm.nih.gov/gene/84248 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q5T7N2 |
| OMIM ID | 617641 |
| HGNC ID | 28034 |
| Aliases | C19orf35, BRD4-interacting chromatin-remodeling complex-associated protein |
Description
BICRAL (BRD4 interacting chromatin remodeling complex associated protein) is a protein-coding gene located on chromosome 19p13.3. It encodes a component of the BRD4-containing chromatin remodeling complex, which plays a role in transcriptional regulation and chromatin dynamics. BICRAL is involved in various cellular processes, and its dysregulation has been implicated in certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential involvement in chromatin remodeling affecting neuronal gene expression | ClinVar: reported variants in patients with intellectual disability (limited evidence) |
| Cancer | Altered expression may affect chromatin remodeling and oncogene expression | COSMIC: somatic mutations in various cancers (low frequency) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Bone marrow | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 10.2 | Chronic myelogenous leukemia; moderate expression |
| HeLa | 8.5 | Cervical adenocarcinoma; moderate expression |
| A549 | 6.3 | Lung carcinoma; low expression |
| HepG2 | 5.1 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Predicted to cause loss of function via premature truncation |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function due to frameshift |
| c.890A>G (p.Gln297Arg) | Missense | Rare | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) are predicted to result in a truncated or absent protein, leading to impaired chromatin remodeling function.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA binding |
| • transcription regulation | • protein binding |
Pathways
• Chromatin organization
• Transcriptional regulation by BRD4
Protein Summary
The BICRAL protein is a component of the BRD4-containing chromatin remodeling complex. It contains a bromodomain-interacting region and is involved in ATP-dependent chromatin remodeling, facilitating transcription factor access to DNA. The protein is localized to the nucleus and plays a role in regulating gene expression during development and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICRAL Knockout HEK293 Cell Line | EDJ-KQ7366 | Human | 23506 | Details Get a Quote |
| BICRAL Knockout A-549 Cell Line | EDJ-KQ33823 | Human | 23506 | Details Get a Quote |
| BICRAL Knockout HeLa Cell Line | EDJ-KQ33825 | Human | 23506 | Details Get a Quote |
| BICRAL Knockout HCT 116 Cell Line | EDJ-KQ77928 | Human | 23506 | Details Get a Quote |
