BRICD5
BRICHOS Domain Containing 5
Gene Information Card
| Symbol | BRICD5 |
|---|---|
| Full Name | BRICHOS Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617575 |
| HGNC ID | 34372 |
| Aliases | C16orf90, BRICHOS domain containing 5 |
Description
BRICD5 (BRICHOS Domain Containing 5) is a protein-coding gene located on chromosome 16p13.3. The encoded protein contains a BRICHOS domain, which is associated with chaperone-like activity and is found in several proteins linked to dementia and respiratory diseases. The specific function of BRICD5 is not fully characterized, but it is predicted to be involved in protein folding and quality control in the endoplasmic reticulum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Thyroid | 3.1 | Low |
| Adrenal gland | 2.8 | Low |
| Prostate | 2.5 | Low |
| Lung | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.5 | Low expression |
| HeLa | 0.8 | Not detected |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | 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)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Protein Summary
The BRICD5 protein (UniProt A6NKD9) is 291 amino acids long and contains a BRICHOS domain. The BRICHOS domain is known to prevent amyloid fibril formation and is involved in protein quality control. The full biological role of BRICD5 remains to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRICD5 Knockout HEK293 Cell Line | EDJ-KQ12566 | Human | 283870 | Details Get a Quote |
| BRICD5 Knockout HeLa Cell Line | EDJ-KQ40287 | Human | 283870 | Details Get a Quote |
| BRICD5 Knockout A-549 Cell Line | EDJ-KQ41585 | Human | 283870 | Details Get a Quote |
| BRICD5 Knockout HCT 116 Cell Line | EDJ-KQ41586 | Human | 283870 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
