FAM110C (Family With Sequence Similarity 110 Member C): A Cytoskeleton-Associated Protein with Emerging Roles in Cell Cycle and Cancer
FAM110C is a poorly characterized protein-coding gene located on chromosome 2p25.3. It is a member of the FAM110 family, known for its interaction with the mitotic spindle and centrosomes. Current evidence suggests a role in cell cycle progression, cytoskeletal dynamics, and potential implications in tumorigenesis, though its functional repertoire remains under active investigation.
Gene Information Card
| Symbol | FAM110C |
|---|---|
| Full Name | family with sequence similarity 110 member C |
| Gene Type | protein coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 55173 ncbi.nlm.nih.gov/gene/55173 |
| Ensembl ID | ENSG00000163072 |
| UniProt ID | Q8IZ19 |
| OMIM ID | 611393 |
| HGNC ID | HGNC:25212 |
| Aliases | FLJ11273, MGC29643 |
Description
FAM110C (Family With Sequence Similarity 110 Member C) is a protein-coding gene located on the short arm of chromosome 2 (2p25.3). It belongs to the FAM110 family, which also includes FAM110A and FAM110B. The encoded protein is characterized by a C-terminal coiled-coil domain and is known to localize to the centrosome and mitotic spindle during cell division. FAM110C is thought to play a role in cell cycle progression and cytoskeletal organization. While its precise functions are still being characterized, emerging evidence suggests it may be involved in the regulation of microtubule dynamics and potentially in the pathogenesis of certain cancers. The gene is expressed in various tissues, with notable levels in the brain, testis, and some cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (potential) | FAM110C may influence tumorigenesis through its role in cell cycle regulation and centrosome function. Aberrant expression could lead to mitotic defects and genomic instability. | Expression data from the Human Protein Atlas (HPA) and COSMIC show altered expression in certain cancer types, though functional validation is limited. No germline disease-causing mutations are currently curated in ClinVar. |
| No specific monogenic disease | As of the latest data, no specific Mendelian disorder has been directly linked to mutations in FAM110C. | OMIM entry (611393) describes the gene and its characteristics but does not list an associated phenotype. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 10.2 | Low |
| Testis | 8.5 | Low |
| Lymph node | 6.1 | Low |
| Bone marrow | 5.3 | Low |
| Spleen | 4.8 | Low |
| Other tissues | 0-4 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-2 OS (Osteosarcoma) | 12.5 | Moderate expression; used in functional studies of FAM110 family proteins. |
| A-431 (Epidermoid carcinoma) | 8.1 | Low expression. |
| MCF-7 (Breast cancer) | 6.3 | Low expression. |
| HeLa (Cervical cancer) | 5.0 | Low expression. |
| K-562 (Leukemia) | 3.2 | Very low expression. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.394C>T (p.Arg132Trp) | Missense | Not reported in large population databases (e.g., gnomAD). | Unknown; not associated with any disease phenotype in ClinVar. |
| c.512A>G (p.Glu171Gly) | Missense | Not reported in large population databases. | Unknown; no clinical significance reported. |
| c.601_602insA (p.Thr201AsnfsTer12) | Frameshift | Not reported in large population databases. | Predicted to cause loss of function via nonsense-mediated decay, but no disease association is established. |
Mutation functional classification
Loss of Function (LOF)
No definitive loss-of-function mutations have been characterized in FAM110C. Frameshift or nonsense variants are predicted to be deleterious, but their impact on cellular phenotype has not been experimentally validated.
Gain of Function (GOF)
No gain-of-function mutations have been described for FAM110C.
Dominant Negative (DN)
No dominant-negative mutations have been described for FAM110C.
View complete mutation data:
Gene Ontology (GO)
| • centrosome | • microtubule cytoskeleton |
| • protein binding | • mitotic spindle |
| • cell cycle | • cell division |
Pathways
• Cell Cycle
• Mitotic
• Resolution of Sister Chromatid Cohesion
• Microtubule cytoskeleton organization
Protein Summary
The FAM110C protein is a 307-amino acid polypeptide with a predicted molecular mass of approximately 34 kDa. It contains a coiled-coil domain in its C-terminal region, which is a common motif for protein-protein interactions. Immunofluorescence studies have shown that FAM110C localizes to the centrosome during interphase and to the mitotic spindle during mitosis, suggesting a role in cell division. It is believed to interact with other centrosomal and spindle-associated proteins, potentially influencing microtubule dynamics and chromosome segregation. The protein is expressed at low levels in most normal tissues but shows elevated expression in some cancer cell lines, hinting at a possible role in oncogenesis. However, the exact molecular mechanisms and binding partners of FAM110C remain largely unknown and are the subject of ongoing research.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM110C Knockout UMNSAH/DF-1 Cell Line | EDJ-KQ17 | Chicken | 11315 | Details Get a Quote |
| FAM110C Knockout HEK293 Cell Line | EDJ-KQ13391 | Human | 642273 | Details Get a Quote |
| FAM110C Knockout HCT 116 Cell Line | EDJ-KQ42896 | Human | 642273 | Details Get a Quote |
| FAM110C Knockout HeLa Cell Line | EDJ-KQ42897 | Human | 642273 | Details Get a Quote |
| FAM110C Knockout A-549 Cell Line | EDJ-KQ68994 | Human | 642273 | Details Get a Quote |
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