BRI3BP: BRI3 Binding Protein Gene
A gene encoding a protein involved in cellular signaling and potential tumor suppression.
Gene Information Card
| Symbol | BRI3BP |
|---|---|
| Full Name | BRI3 binding protein |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 140707 ncbi.nlm.nih.gov/gene/140707 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8N7M0 |
| OMIM ID | 615278 |
| HGNC ID | 28338 |
| Aliases | BRI3BP, C12orf2, BRI3BP1 |
Description
BRI3BP (BRI3 binding protein) is a protein-coding gene located on chromosome 12q24.31. The encoded protein interacts with BRI3, a member of the BRI family involved in cellular signaling and possibly tumor suppression. BRI3BP is expressed in various tissues and may play a role in cell growth regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations curated in OMIM or ClinVar as of current data. | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.9 | Not detected |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar or COSMIC as of current data. | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available.
Gain of Function (GOF)
No data available.
Dominant Negative (DN)
No data available.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• ['No curated pathways available.']
Protein Summary
The BRI3BP protein is a 267-amino acid polypeptide with a molecular weight of approximately 30 kDa. It contains a conserved domain of unknown function (DUF). The protein localizes to the cytoplasm and interacts with BRI3, potentially modulating signaling pathways related to cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRI3BP Knockout HEK293 Cell Line | EDJ-KQ9800 | Human | 140707 | Details Get a Quote |
| BRI3BP Knockout A-549 Cell Line | EDJ-KQ36645 | Human | 140707 | Details Get a Quote |
| BRI3BP Knockout HCT 116 Cell Line | EDJ-KQ36646 | Human | 140707 | Details Get a Quote |
| BRI3BP Knockout HeLa Cell Line | EDJ-KQ36647 | Human | 140707 | Details Get a Quote |
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