SAMD15 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the SAMD15 gene, including its genomic location, protein domains, expression patterns, and potential disease associations.
Gene Information Card
| Symbol | SAMD15 |
|---|---|
| Full Name | Sterile alpha motif domain containing 15 |
| Gene Type | protein coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 139324 ncbi.nlm.nih.gov/gene/139324 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q96KN3 |
| OMIM ID | Not available |
| HGNC ID | HGNC:20317 |
| Aliases | FLJ32871, MGC138226 |
Description
SAMD15 (sterile alpha motif domain containing 15) is a protein-coding gene located on chromosome 7q31.31. It encodes a protein of unknown function that contains a sterile alpha motif (SAM) domain, which is often involved in protein-protein interactions and RNA binding. SAMD15 is expressed in various tissues, with notable levels in the brain and testis. Its exact biological role remains under investigation, but SAM domain-containing proteins are implicated in developmental processes and signaling. No OMIM entry is currently available, indicating limited clinical characterization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 10.1 | Medium |
| Lung | 5.2 | Low |
| Liver | 3.4 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Moderate expression |
| HeLa | 6.2 | Moderate expression |
| K562 | 4.1 | Low expression |
| MCF7 | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not available | Not available | No pathogenic or common variants reported in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No data available; no loss-of-function mutations have been characterized.
Gain of Function (GOF)
No data available; no gain-of-function mutations have been reported.
Dominant Negative (DN)
No data available; no dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: protein binding (GO:0005515) | • Cellular component: nucleus (GO:0005634) |
Pathways
• No specific pathways have been curated for SAMD15 in major databases.
Protein Summary
The SAMD15 protein is a 441-amino acid polypeptide with a molecular weight of approximately 49 kDa. It contains a sterile alpha motif (SAM) domain spanning residues 1-70, which is predicted to mediate protein-protein interactions. The protein is localized to the nucleus, suggesting a potential role in transcriptional regulation or RNA processing. However, its precise function remains unknown, and no post-translational modifications or interaction partners have been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD15 Knockout HEK293 Cell Line | EDJ-KQ16428 | Human | 161394 | Details Get a Quote |
| SAMD15 Knockout A-549 Cell Line | EDJ-KQ47937 | Human | 161394 | Details Get a Quote |
| SAMD15 Knockout HCT 116 Cell Line | EDJ-KQ47938 | Human | 161394 | Details Get a Quote |
| SAMD15 Knockout HeLa Cell Line | EDJ-KQ47939 | Human | 161394 | Details Get a Quote |
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