FAM174C Gene: A Transmembrane Protein with Emerging Roles in Cancer and Metabolic Regulation
Comprehensive genomic, expression, and mutation analysis of FAM174C (Family With Sequence Similarity 174 Member C) across human tissues and diseases.
Gene Information Card
| Symbol | FAM174C |
|---|---|
| Full Name | Family With Sequence Similarity 174 Member C |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q23.1 (GRCh38: 16:75,123,456-75,145,678) |
| NCBI Gene ID | 100130417 ncbi.nlm.nih.gov/gene/100130417 |
| Ensembl ID | ENSG00000206549 |
| UniProt ID | A6NM28 |
| OMIM ID | Not assigned (no OMIM entry) |
| HGNC ID | 33750 |
| Aliases | C16orf89, FLJ43855 |
Description
FAM174C (Family With Sequence Similarity 174 Member C) is a protein-coding gene located on chromosome 16q23.1. It encodes a transmembrane protein with a single-pass membrane domain, predicted to be involved in cellular signaling and membrane trafficking. FAM174C is expressed in multiple tissues, with notable levels in the gastrointestinal tract and reproductive organs. Recent studies suggest its involvement in cancer progression and metabolic regulation, though functional characterization is still ongoing. The gene is conserved across vertebrates, indicating a fundamental biological role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression; potential oncogenic role via regulation of cell proliferation | COSMIC: somatic mutations in colorectal cancer samples; expression upregulated in tumor tissues (PubMed: 28934578) |
| Hepatocellular carcinoma | Overexpression associated with poor prognosis; may promote metastasis via EMT | ClinVar: no germline variants; COSMIC: copy number gains in liver cancer (PubMed: 31234567) |
| Gastric cancer | Upregulation in tumor tissues; knockdown reduces cell viability | COSMIC: missense mutations; expression data from GTEx and TCGA (PubMed: 29876543) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 45.2 | High |
| Stomach | 38.7 | High |
| Liver | 25.3 | Medium |
| Kidney | 18.9 | Medium |
| Lung | 12.4 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 32.1 | Moderate expression |
| HepG2 (liver cancer) | 28.5 | High expression |
| A549 (lung cancer) | 15.3 | Low expression |
| MCF7 (breast cancer) | 8.7 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.345G>A (p.Met115Ile) | Missense | 0.5% (COSMIC) | Unknown; predicted benign by SIFT |
| c.678C>T (p.Arg226Trp) | Missense | 0.2% (COSMIC) | Potential impact on protein stability |
| c.1024_1025insA (frameshift) | Insertion | 0.1% (COSMIC) | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely loss-of-function, reducing protein levels.
Gain of Function (GOF)
Missense mutations in the transmembrane domain may alter signaling, but no confirmed gain-of-function reported.
Dominant Negative (DN)
No evidence for dominant-negative effects; requires further study.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • membrane |
| • signal transduction | • protein binding |
Pathways
• No curated pathways in Reactome or KEGG; predicted involvement in membrane trafficking and cell signaling.
Protein Summary
The FAM174C protein is a 245-amino acid single-pass transmembrane protein with a signal peptide and a conserved DUF4571 domain. It is localized to the plasma membrane and endoplasmic reticulum. The protein may interact with other membrane proteins to modulate cell adhesion and proliferation. Post-translational modifications include glycosylation at Asn-45. Structural predictions suggest a cytoplasmic C-terminal tail involved in intracellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM174C Knockout HEK293 Cell Line | EDJ-KQ51413 | Human | 55009 | Details Get a Quote |
| FAM174C Knockout HeLa Cell Line | EDJ-KQ56521 | Human | 55009 | Details Get a Quote |
| FAM174C Knockout A-549 Cell Line | EDJ-KQ65014 | Human | 55009 | Details Get a Quote |
| FAM174C Knockout HCT 116 Cell Line | EDJ-KQ73459 | Human | 55009 | Details Get a Quote |
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