SAPCD2 (Suppressor APC Domain Containing 2)
Gene encoding a protein involved in cell cycle regulation and tumor suppression
Gene Information Card
| Symbol | SAPCD2 |
|---|---|
| Full Name | Suppressor APC Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 89958 ncbi.nlm.nih.gov/gene/89958 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q86Y38 |
| OMIM ID | 611177 |
| HGNC ID | HGNC:28700 |
| Aliases | FLJ11273, MGC13170, SAPCD2 |
Description
SAPCD2 (Suppressor APC Domain Containing 2) is a protein-coding gene located on chromosome 9q34.3. The encoded protein contains an APC (adenomatous polyposis coli) domain and is implicated in cell cycle regulation, particularly in mitotic spindle checkpoint control. It is considered a putative tumor suppressor, with reduced expression observed in several cancer types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of SAPCD2 expression may contribute to chromosomal instability and tumor progression | PMID: 19029980 |
| Hepatocellular carcinoma | Downregulation associated with poor prognosis and increased proliferation | PMID: 23593055 |
| Gastric cancer | Reduced expression linked to tumor aggressiveness | PMID: 24316979 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 5.1 | Low |
| Liver | 3.8 | Low |
| Colon | 2.9 | Low |
| Breast | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.2 | Cervical cancer cell line |
| HepG2 | 6.7 | Hepatocellular carcinoma cell line |
| MCF7 | 2.1 | Breast cancer cell line |
| A549 | 1.8 | Lung cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.235C>T | Nonsense | 0.005% | p.Arg79*; premature truncation |
| c.487_488del | Frameshift | 0.002% | p.Leu163fs; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
No evidence of gain-of-function mutations reported
Dominant Negative (DN)
Not described
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • spindle (GO:0005819) | • chromosome segregation (GO:0007059) |
| • cell division (GO:0051301) |
Pathways
• Cell cycle - mitotic spindle checkpoint
• APC/C-mediated degradation
Protein Summary
The SAPCD2 protein (UniProt Q86Y38) is 364 amino acids long and contains an APC domain. It localizes to the cytoplasm and spindle apparatus, playing a role in mitotic spindle checkpoint function. Loss of SAPCD2 expression is associated with chromosomal instability and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAPCD2 Knockout HEK293 Cell Line | EDJ-KQ10548 | Human | 89958 | Details Get a Quote |
| SAPCD2 Knockout A-549 Cell Line | EDJ-KQ37992 | Human | 89958 | Details Get a Quote |
| SAPCD2 Knockout HCT 116 Cell Line | EDJ-KQ37993 | Human | 89958 | Details Get a Quote |
| SAPCD2 Knockout HeLa Cell Line | EDJ-KQ37994 | Human | 89958 | Details Get a Quote |
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