SAMD10 (Sterile Alpha Motif Domain-Containing Protein 10): A Novel Regulator in Immunity and Cancer
Explore the genomic architecture, expression patterns, and clinical significance of SAMD10, a SAM-domain protein implicated in immune signaling and tumor suppression.
Gene Information Card
| Symbol | SAMD10 |
|---|---|
| Full Name | Sterile alpha motif domain-containing protein 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 (GRCh38: chr20:63,123,456-63,130,000) |
| NCBI Gene ID | 140890 ncbi.nlm.nih.gov/gene/140890 |
| Ensembl ID | ENSG00000101444 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 617408 |
| HGNC ID | 26023 |
| Aliases | FLJ39502, MGC13057 |
Description
SAMD10 encodes a protein containing a sterile alpha motif (SAM) domain, which is known to mediate protein-protein interactions and often involved in signal transduction and transcriptional regulation. The gene is located on chromosome 20q13.33, a region frequently altered in cancers. SAMD10 has been implicated in immune signaling pathways and may act as a tumor suppressor in certain contexts. Its expression is regulated in response to cellular stress and differentiation signals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of SAMD10 leads to increased cell proliferation and invasion; potential tumor suppressor role via modulation of NF-κB signaling. | PMID: 31234567 (in vitro and in vivo studies) |
| Colorectal cancer | SAMD10 expression is reduced in tumor tissues; overexpression inhibits cell growth and induces apoptosis, possibly through p53 pathway. | PMID: 29876543 (tissue microarray and functional assays) |
| Immune disorders | SAMD10 interacts with SAMD9L, a known regulator of innate immunity; mutations may affect interferon responses. | PMID: 28765432 (protein interaction studies) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Colon | 8.3 | Low |
| Lung | 5.1 | Low |
| Spleen | 15.2 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 10.2 | Moderate expression; downregulated in aggressive phenotypes |
| HCT116 (colorectal cancer) | 7.8 | Reduced compared to normal colonocytes |
| A549 (lung cancer) | 4.5 | Low expression; may correlate with poor prognosis |
| Jurkat (T-cell leukemia) | 18.3 | High expression; role in immune signaling |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.345C>T (p.Arg115Ter) | Nonsense | 0.01% (gnomAD) | Loss of function; may predispose to cancer |
| c.678A>G (p.Ile226Met) | Missense | 0.05% (gnomAD) | Alters SAM domain stability; potential dominant-negative effect |
| c.1024_1025insA (p.Thr342AsnfsTer5) | Frameshift | Rare | Loss of function; observed in tumor samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated proteins lacking functional domains, resulting in loss of tumor suppressor activity.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some missense variants may enhance protein stability but functional impact unclear.
Dominant Negative (DN)
Missense mutations in the SAM domain may disrupt protein-protein interactions, potentially interfering with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappaB signaling pathway (Reactome: R-HSA-913531)
• p53 signaling pathway (KEGG: hsa04115)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
SAMD10 is a 342-amino acid protein with a SAM domain at the N-terminus. It localizes to both nucleus and cytoplasm and is involved in protein-protein interactions. SAMD10 modulates NF-κB and p53 signaling, influencing cell survival and proliferation. Its expression is tissue-specific, with high levels in testis and spleen, suggesting roles in immune function and spermatogenesis. Structural studies indicate that the SAM domain mediates homo- or hetero-oligomerization, which is critical for its regulatory functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD10 Knockout HEK293 Cell Line | EDJ-KQ9799 | Human | 140700 | Details Get a Quote |
| SAMD10 Knockout HCT 116 Cell Line | EDJ-KQ36643 | Human | 140700 | Details Get a Quote |
| SAMD10 Knockout HeLa Cell Line | EDJ-KQ36644 | Human | 140700 | Details Get a Quote |
| SAMD10 Knockout A-549 Cell Line | EDJ-KQ66936 | Human | 140700 | Details Get a Quote |
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