NBPF9: NBPF Member 9
A member of the neuroblastoma breakpoint family (NBPF) with potential roles in neurodevelopment and cancer.
Gene Information Card
| Symbol | NBPF9 |
|---|---|
| Full Name | NBPF member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 400818 ncbi.nlm.nih.gov/gene/400818 |
| Ensembl ID | ENSG00000198887 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 614005 |
| HGNC ID | 24437 |
| Aliases | MGC26733, NBPF9 |
Description
NBPF9 is a protein-coding gene belonging to the neuroblastoma breakpoint family (NBPF) located on chromosome 1q21.1. This region is associated with recurrent copy number variations linked to neurodevelopmental disorders and cancer. The NBPF9 protein contains DUF1220 domains, which are primate-specific and implicated in brain evolution and cognitive function. Expression is enriched in neural tissues, and alterations in NBPF9 may contribute to neuroblastoma and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Potential oncogenic role via copy number alterations in 1q21.1 | COSMIC, NCBI Gene |
| Autism spectrum disorder | CNVs at 1q21.1 including NBPF9 are associated with ASD risk | ClinVar, OMIM |
| Schizophrenia | 1q21.1 deletions/duplications involving NBPF9 linked to schizophrenia | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 5.1 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.6 | Neuroblastoma cell line |
| HEK293 | 3.2 | Embryonic kidney |
| HeLa | 2.1 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.1% | Unknown functional impact |
| c.567_568del | frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in NBPF9.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Protein Summary
The NBPF9 protein is a member of the neuroblastoma breakpoint family, characterized by DUF1220 domains. These domains are primate-specific and have been linked to brain size evolution and cognitive function. The exact molecular function of NBPF9 remains unclear, but it is thought to play a role in cell proliferation and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NBPF9 Knockout HEK293 Cell Line | EDJ-KQ11594 | Human | 400818 | Details Get a Quote |
| NBPF9 Knockout A-549 Cell Line | EDJ-KQ39932 | Human | 400818 | Details Get a Quote |
| NBPF9 Knockout HCT 116 Cell Line | EDJ-KQ39933 | Human | 400818 | Details Get a Quote |
| NBPF9 Knockout HeLa Cell Line | EDJ-KQ38616 | Human | 400818 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
