FAM32A: A Putative Apoptosis Regulator and Potential Cancer Biomarker
Comprehensive genomic and proteomic overview of FAM32A, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | FAM32A |
|---|---|
| Full Name | Family With Sequence Similarity 32 Member A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 84223 ncbi.nlm.nih.gov/gene/84223 |
| Ensembl ID | ENSG00000104825 |
| UniProt ID | Q9BZ95 |
| OMIM ID | 617226 |
| HGNC ID | 28428 |
| Aliases | OTAG-12, MGC10731 |
Description
FAM32A (Family With Sequence Similarity 32 Member A) is a protein-coding gene located on chromosome 19p13.11. The encoded protein, also known as OTAG-12, is a putative apoptosis regulator. It is expressed in a wide range of tissues and has been implicated in several cancers, including colorectal and breast cancer, where altered expression may contribute to tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of FAM32A may promote cell proliferation and inhibit apoptosis, contributing to tumorigenesis. | PMID: 25636838 |
| Breast Cancer | FAM32A expression is upregulated in breast cancer tissues and correlates with poor prognosis. | PMID: 27323850 |
| Gastric Cancer | FAM32A knockdown reduces cell viability and induces apoptosis in gastric cancer cell lines. | PMID: 29393451 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | Medium |
| Thyroid | 15.2 | Medium |
| Adrenal Gland | 12.8 | Medium |
| Lung | 10.1 | Medium |
| Breast | 8.9 | Low |
| Colon | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HCT116 | 9.8 | Colorectal cancer cell line |
| A549 | 8.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Unknown functional impact |
| c.307C>T (p.Arg103Trp) | Missense | <0.01% | Unknown functional impact |
| c.421_422insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.421_422insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FAM32A.
Dominant Negative (DN)
No dominant-negative mutations have been described for FAM32A.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
FAM32A encodes a 125-amino acid protein (UniProt Q9BZ95) with a molecular weight of approximately 14 kDa. The protein localizes to the nucleus and cytoplasm and is involved in the regulation of apoptosis. It may act as a negative regulator of programmed cell death, and its overexpression in certain cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM32A Knockout HEK293 Cell Line | EDJ-KQ51157 | Human | 26017 | Details Get a Quote |
| FAM32A Knockout HeLa Cell Line | EDJ-KQ55866 | Human | 26017 | Details Get a Quote |
| FAM32A Knockout A-549 Cell Line | EDJ-KQ64357 | Human | 26017 | Details Get a Quote |
| FAM32A Knockout HCT 116 Cell Line | EDJ-KQ72806 | Human | 26017 | Details Get a Quote |
