FAM221B Gene: Structure, Expression, and Clinical Significance
A comprehensive overview of the FAM221B gene, including its genomic location, protein characteristics, expression patterns, and potential implications in human disease.
Gene Information Card
| Symbol | FAM221B |
|---|---|
| Full Name | family with sequence similarity 221 member B |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000180537 |
| UniProt ID | Q5T0P6 |
| OMIM ID | Not available |
| HGNC ID | 33733 |
| Aliases | C9orf132 |
Description
FAM221B (family with sequence similarity 221 member B) is a protein-coding gene located on the short arm of chromosome 9 (9p13.3). The gene is also known by the alias C9orf132. While its precise biological function is not yet fully characterized, it is predicted to encode a protein that may be involved in cellular processes. The gene is conserved across several species, suggesting a fundamental biological role. Further research is needed to fully elucidate its function and clinical significance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| No specific disease associations have been established for FAM221B. | Unknown; no pathogenic variants have been reported in ClinVar. | No direct evidence from ClinVar or OMIM linking FAM221B to a specific disease. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 10.2 | Low |
| Thyroid | 7.8 | Low |
| Adrenal Gland | 6.5 | Low |
| Prostate | 5.9 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| K-562 | 5.0 | Chronic myelogenous leukemia cell line; low expression. |
| HeLa | 4.2 | Cervical adenocarcinoma cell line; low expression. |
| A549 | 3.8 | Lung carcinoma cell line; low expression. |
| MCF7 | 3.5 | Breast adenocarcinoma cell line; low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| No clinically significant variants have been reported. | N/A | N/A | No known pathogenic or likely pathogenic variants have been curated in ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function variants have been characterized for FAM221B.
Gain of Function (GOF)
No gain-of-function variants have been characterized for FAM221B.
Dominant Negative (DN)
No dominant-negative variants have been characterized for FAM221B.
View complete mutation data：
Gene Ontology (GO)
| • No Gene Ontology (GO) terms have been assigned to FAM221B in the UniProt database. |
Pathways
• No specific biological pathways have been associated with FAM221B in the Reactome or KEGG databases.
Protein Summary
The FAM221B gene encodes a protein that is predicted to be localized to the membrane. The protein sequence contains a domain of unknown function (DUF4605), which is conserved in other species. The exact molecular function and cellular role of the FAM221B protein remain to be determined experimentally. It is expressed at low levels in a variety of tissues, with the highest expression observed in the testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM221B Knockout HEK293 Cell Line | EDJ-KQ13428 | Human | 392307 | Details Get a Quote |
| FAM221B Knockout HeLa Cell Line | EDJ-KQ60227 | Human | 392307 | Details Get a Quote |
| FAM221B Knockout A-549 Cell Line | EDJ-KQ68689 | Human | 392307 | Details Get a Quote |
| FAM221B Knockout HCT 116 Cell Line | EDJ-KQ77056 | Human | 392307 | Details Get a Quote |
