BICRA Gene: BRD4 Interacting Chromatin Remodeling Complex Associated Protein
BICRA (BRD4 Interacting Chromatin Remodeling Complex Associated Protein) is a gene encoding a component of the BAF chromatin remodeling complex, involved in transcriptional regulation and linked to Coffin-Siris syndrome and cancer.
Gene Information Card
| Symbol | BICRA |
|---|---|
| Full Name | BRD4 Interacting Chromatin Remodeling Complex Associated Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 29998 ncbi.nlm.nih.gov/gene/29998 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9NZM4 |
| OMIM ID | 605690 |
| HGNC ID | 4332 |
| Aliases | GLTSCR1, BAF250b, SMARCF1 |
Description
BICRA (BRD4 Interacting Chromatin Remodeling Complex Associated Protein), also known as GLTSCR1, encodes a protein that is a subunit of the BAF (SWI/SNF) chromatin remodeling complex. It interacts with BRD4 and is involved in ATP-dependent chromatin remodeling, regulating transcription, cell cycle, and development. Mutations in BICRA are associated with Coffin-Siris syndrome and various cancers, including glioblastoma and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome | Loss-of-function mutations in BICRA disrupt BAF complex function, leading to impaired chromatin remodeling and developmental abnormalities. | ClinVar, OMIM |
| Glioblastoma | Somatic mutations and copy number alterations in BICRA (GLTSCR1) are recurrent in glioblastoma, potentially affecting tumor suppressor pathways. | COSMIC, NCBI |
| Lung cancer | BICRA mutations and altered expression are observed in lung adenocarcinoma, contributing to oncogenic transcriptional programs. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Testis | 15.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression in embryonic kidney cells |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| U87MG | 14.2 | Glioblastoma cell line |
| HeLa | 11.5 | Cervical cancer cell line |
| K562 | 7.3 | Chronic myeloid leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare (0.01%) | Loss of function; truncation of BICRA protein |
| c.567_568del (p.Glu190fs) | Frameshift | 0.005% | Loss of function; frameshift leading to premature stop |
| c.2345A>G (p.Tyr782Cys) | Missense | 0.02% | Unknown; may affect protein stability or interaction |
| c.3456+1G>A | Splice site | 0.001% | Loss of function; splice donor disruption |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice site mutations in BICRA lead to truncated or absent protein, impairing BAF complex assembly and chromatin remodeling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for BICRA.
Dominant Negative (DN)
Missense mutations in conserved domains may act as dominant-negative by disrupting BAF complex interactions, though evidence is limited.
View complete mutation data:
Gene Ontology (GO)
| • chromatin remodeling (GO:0006338) | • nucleus (GO:0005634) |
| • histone binding (GO:0042393) | • transcription coregulator activity (GO:0003712) |
| • chromatin (GO:0000785) |
Pathways
• Chromatin remodeling by BAF (SWI/SNF) complexes
• BRD4-mediated transcriptional regulation
• Developmental gene expression
Protein Summary
The BICRA protein (Q9NZM4) is a 1563-amino acid component of the BAF chromatin remodeling complex. It contains a BRD4-interacting domain and a conserved region for complex assembly. It facilitates ATP-dependent nucleosome sliding and transcriptional activation or repression. BICRA is expressed in multiple tissues, with highest levels in brain and testis. Mutations are linked to Coffin-Siris syndrome and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICRA Knockout HEK293 Cell Line | EDJ-KQ2221 | Human | 29998 | Details Get a Quote |
| BICRAL Knockout HEK293 Cell Line | EDJ-KQ7366 | Human | 23506 | Details Get a Quote |
| BICRA Knockout HeLa Cell Line | EDJ-KQ21186 | Human | 29998 | Details Get a Quote |
| BICRA Knockout A-549 Cell Line | EDJ-KQ22494 | Human | 29998 | 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 |
| BICRA Knockout HCT 116 Cell Line | EDJ-KQ77944 | Human | 29998 | Details Get a Quote |