NBPF14
Neuroblastoma Breakpoint Family Member 14
Gene Information Card
| Symbol | NBPF14 |
|---|---|
| Full Name | Neuroblastoma Breakpoint Family Member 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 25832 ncbi.nlm.nih.gov/gene/25832 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q8N660 |
| OMIM ID | 614420 |
| HGNC ID | 24437 |
| Aliases | MGC12972, NBPF14 |
Description
NBPF14 is a protein-coding gene belonging to the neuroblastoma breakpoint family (NBPF), which is characterized by DUF1220 domains. The gene is located on chromosome 1q21.1, a region associated with copy number variations and neurodevelopmental disorders. NBPF14 is predominantly expressed in brain and testis, and its function is linked to neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | NBPF14 is located at a recurrent breakpoint region; structural rearrangements may disrupt gene expression | NCBI Gene, OMIM |
| 1q21.1 deletion syndrome | Copy number loss of NBPF14 may contribute to neurodevelopmental phenotypes | ClinVar, OMIM |
| 1q21.1 duplication syndrome | Copy number gain of NBPF14 may be associated with macrocephaly and autism | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 3.4 | Low expression |
| HeLa | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Unknown functional impact |
| c.567_568del | Frameshift | 0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause protein truncation or nonsense-mediated decay
Gain of Function (GOF)
No documented gain-of-function mutations
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• No curated pathways
Protein Summary
NBPF14 encodes a protein of 1,174 amino acids containing multiple DUF1220 domains, which are primate-specific and implicated in brain evolution and neurogenesis. The protein localizes to the nucleus and cytoplasm and may interact with other NBPF family members. Its exact biochemical function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NBPF14 Knockout HEK293 Cell Line | EDJ-KQ51138 | Human | 25832 | Details Get a Quote |
| NBPF14 Knockout HeLa Cell Line | EDJ-KQ55825 | Human | 25832 | Details Get a Quote |
| NBPF14 Knockout A-549 Cell Line | EDJ-KQ64317 | Human | 25832 | Details Get a Quote |
| NBPF14 Knockout HCT 116 Cell Line | EDJ-KQ72770 | Human | 25832 | Details Get a Quote |
