FAM81B: A Protein-Coding Gene with Limited Functional Annotation
Comprehensive genomic and proteomic overview of FAM81B, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | FAM81B |
|---|---|
| Full Name | Family With Sequence Similarity 81 Member B |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 153643 ncbi.nlm.nih.gov/gene/153643 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q8N4S0 |
| OMIM ID | 617782 |
| HGNC ID | 26768 |
| Aliases | MGC16169, FLJ32786 |
Description
FAM81B is a protein-coding gene located on chromosome 5q31.3. The encoded protein has no well-characterized function, but it is predicted to be involved in cellular processes based on sequence similarity. Expression data suggest broad but low-level transcription in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 1.0 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| K562 | 0.9 | Low expression |
| HeLa | 0.7 | 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 |
| c.100C>T | Nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause premature truncation; no functional validation.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • No GO terms assigned |
Pathways
• No pathways curated
Protein Summary
The FAM81B protein (UniProt Q8N4S0) is 298 amino acids long with no known domains or motifs. Its function remains uncharacterized, and no structural data are available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM81B Knockout HEK293 Cell Line | EDJ-KQ11528 | Human | 153643 | Details Get a Quote |
| FAM81B Knockout HeLa Cell Line | EDJ-KQ58729 | Human | 153643 | Details Get a Quote |
| FAM81B Knockout A-549 Cell Line | EDJ-KQ67212 | Human | 153643 | Details Get a Quote |
| FAM81B Knockout HCT 116 Cell Line | EDJ-KQ75615 | Human | 153643 | Details Get a Quote |
