BRINP2
BMP/Retinoic Acid Inducible Neural Specific Protein 2
Gene Information Card
| Symbol | BRINP2 |
|---|---|
| Full Name | BMP/retinoic acid inducible neural specific protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 57795 ncbi.nlm.nih.gov/gene/57795 |
| Ensembl ID | ENSG00000143375 |
| UniProt ID | Q9P2E3 |
| OMIM ID | 617800 |
| HGNC ID | 28373 |
| Aliases | FAM5B, DBCCR1L1 |
Description
BRINP2 (BMP/retinoic acid inducible neural specific protein 2) is a protein-coding gene involved in neural development and differentiation. It is a member of the BRINP family and is regulated by BMP and retinoic acid signaling pathways. The gene is predominantly expressed in the nervous system and has been implicated in various neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function variants in BRINP2 are associated with neurodevelopmental phenotypes | ClinVar |
| Autism spectrum disorder | Rare variants in BRINP2 have been identified in ASD cohorts | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Spinal cord | 8.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.4 | Neuronal cell line |
| U-87 MG | 9.1 | Glioblastoma cell line |
| HEK 293 | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | Likely damaging |
| c.457G>A (p.Gly153Ser) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in BRINP2 are associated with neurodevelopmental disorders.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nervous system development (GO:0007399) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• BMP signaling pathway
• Retinoic acid signaling pathway
Protein Summary
BRINP2 encodes a protein of 746 amino acids that is localized to the nucleus and cytoplasm. It is involved in neural development and differentiation, regulated by BMP and retinoic acid signaling. The protein contains a conserved domain of unknown function (DUF) and is expressed primarily in neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRINP2 Knockout HEK293 Cell Line | EDJ-KQ12567 | Human | 57795 | Details Get a Quote |
| BRINP2 Knockout HeLa Cell Line | EDJ-KQ56916 | Human | 57795 | Details Get a Quote |
| BRINP2 Knockout A-549 Cell Line | EDJ-KQ65424 | Human | 57795 | Details Get a Quote |
| BRINP2 Knockout HCT 116 Cell Line | EDJ-KQ73861 | Human | 57795 | Details Get a Quote |
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