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.

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 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
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