FMR1NB
FMR1 Neighbor Gene
Gene Information Card
| Symbol | FMR1NB |
|---|---|
| Full Name | FMR1 neighbor |
| Gene Type | protein-coding |
| Chromosomal Location | Xq27.3-q28 |
| NCBI Gene ID | 158521 ncbi.nlm.nih.gov/gene/158521 |
| Ensembl ID | ENSG00000176973 |
| UniProt ID | Q8N0U7 |
| OMIM ID | 300806 |
| HGNC ID | 15519 |
| Aliases | NY-SAR-48, CT37, MGC26733 |
Description
FMR1NB (FMR1 neighbor) is a protein-coding gene located on chromosome Xq27.3-q28, adjacent to the FMR1 gene. It is predominantly expressed in testis and is thought to play a role in spermatogenesis. The gene encodes a protein of unknown function but is a member of the cancer/testis antigen family. Alterations in FMR1NB have been associated with male infertility and spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential loss of FMR1NB expression may disrupt spermatogenesis | Limited; case-control studies suggest association with non-obstructive azoospermia |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (Sertoli cells) | 15.0 | High expression |
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.123delC | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • biological_process: spermatogenesis | • cellular_component: nucleus |
| • molecular_function: protein binding |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The FMR1NB protein is 361 amino acids long and contains a conserved domain of unknown function (DUF). It is localized to the nucleus and may interact with other proteins involved in germ cell development. Its precise molecular function remains unclear, but its testis-specific expression suggests a role in male reproduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMR1NB Knockout HEK293 Cell Line | EDJ-KQ52092 | Human | 158521 | Details Get a Quote |
| FMR1NB Knockout HeLa Cell Line | EDJ-KQ58787 | Human | 158521 | Details Get a Quote |
| FMR1NB Knockout A-549 Cell Line | EDJ-KQ67270 | Human | 158521 | Details Get a Quote |
| FMR1NB Knockout HCT 116 Cell Line | EDJ-KQ75670 | Human | 158521 | Details Get a Quote |
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