FAM53C Gene - Family with Sequence Similarity 53 Member C
A gene encoding a protein of unknown function, implicated in cell proliferation and potential cancer association.
Gene Information Card
| Symbol | FAM53C |
|---|---|
| Full Name | Family with sequence similarity 53 member C |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 51307 ncbi.nlm.nih.gov/gene/51307 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q9H6Z9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:25976 |
| Aliases | FLJ20607, MGC13170 |
Description
FAM53C (family with sequence similarity 53 member C) is a protein-coding gene located on chromosome 10q22.3. The encoded protein contains a conserved domain of unknown function (DUF) and is predicted to be involved in cell proliferation. Limited functional studies suggest a role in cellular growth and potential implications in cancer, though the precise molecular function remains to be fully elucidated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in cell proliferation; overexpression may contribute to tumorigenesis | Limited evidence from expression studies; no direct causal link established in curated databases |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells; moderate expression |
| HeLa | 10.2 | Cervical cancer cells; moderate expression |
| K562 | 7.8 | Leukemia cells; low expression |
| MCF7 | 6.5 | Breast cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown; predicted benign by in silico tools |
| c.100C>T | Nonsense | Very rare | Predicted to cause loss of function via premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to result in a truncated protein, likely leading to loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FAM53C.
Dominant Negative (DN)
No dominant-negative mutations have been described for FAM53C.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Protein Summary
The FAM53C protein (UniProt Q9H6Z9) is 341 amino acids long and contains a conserved domain of unknown function (DUF). It is predicted to localize to the nucleus and cytoplasm. No enzymatic activity or specific binding partners have been experimentally validated. The protein is expressed in multiple tissues, with highest levels in testis and lymph node.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM53C Knockout HEK293 Cell Line | EDJ-KQ11033 | Human | 51307 | Details Get a Quote |
| FAM53C Knockout A-549 Cell Line | EDJ-KQ38933 | Human | 51307 | Details Get a Quote |
| FAM53C Knockout HCT 116 Cell Line | EDJ-KQ38934 | Human | 51307 | Details Get a Quote |
| FAM53C Knockout HeLa Cell Line | EDJ-KQ37625 | Human | 51307 | Details Get a Quote |
