FAM131B Gene
Family With Sequence Similarity 131 Member B
Gene Information Card
| Symbol | FAM131B |
|---|---|
| Full Name | Family With Sequence Similarity 131 Member B |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 100132929 ncbi.nlm.nih.gov/gene/100132929 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | Q5T0J0 |
| OMIM ID | - |
| HGNC ID | 33716 |
| Aliases | MGC16384, bA100C15.3 |
Description
FAM131B is a protein-coding gene located on chromosome 7q34. The encoded protein belongs to the FAM131 family, but its specific biological function remains largely uncharacterized. RNA expression data indicate broad but low-level expression across multiple tissues, with highest levels in the brain and testis. No disease-causing mutations have been conclusively established, and the gene is not currently associated with any Mendelian disorder in OMIM.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No established disease association | Not applicable | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Testis | 1.8 | Low |
| Lung | 0.9 | Very low |
| Liver | 0.5 | Very low |
| Heart | 0.4 | Very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| K562 | 0.8 | Very low expression |
| HeLa | 0.6 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The FAM131B protein (UniProt Q5T0J0) is 241 amino acids long with a predicted molecular mass of 27.5 kDa. It contains a conserved domain of unknown function (DUF). No enzymatic activity or protein-protein interactions have been experimentally validated. Subcellular localization is predicted to be cytoplasmic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM131B Knockout HEK293 Cell Line | EDJ-KQ6710 | Human | 9715 | Details Get a Quote |
| FAM131B Knockout HeLa Cell Line | EDJ-KQ55232 | Human | 9715 | Details Get a Quote |
| FAM131B Knockout A-549 Cell Line | EDJ-KQ63713 | Human | 9715 | Details Get a Quote |
| FAM131B Knockout HCT 116 Cell Line | EDJ-KQ72174 | Human | 9715 | Details Get a Quote |
