SAMD13 Gene - Sterile Alpha Motif Domain Containing 13
A gene encoding a protein with a sterile alpha motif (SAM) domain, involved in potential protein-protein interactions and signaling.
Gene Information Card
| Symbol | SAMD13 |
|---|---|
| Full Name | Sterile Alpha Motif Domain Containing 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 148418 ncbi.nlm.nih.gov/gene/148418 |
| Ensembl ID | ENSG00000187601 |
| UniProt ID | Q6UWE7 |
| OMIM ID | 617888 |
| HGNC ID | 33795 |
| Aliases | FLJ33630, MGC35130 |
Description
SAMD13 (Sterile Alpha Motif Domain Containing 13) is a protein-coding gene located on chromosome 1p31.1. The encoded protein contains a sterile alpha motif (SAM) domain, which is a conserved protein interaction module often involved in signal transduction, transcriptional regulation, and developmental processes. The specific biological function of SAMD13 remains under investigation, but it is predicted to participate in protein-protein interactions and cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association established | Not applicable | No curated disease associations in OMIM, ClinVar, or COSMIC as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.1 | Low |
| Adrenal gland | 2.8 | Low |
| Brain | 1.5 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
| K562 | 0.9 | Not detected |
| HepG2 | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell differentiation (GO:0030154) |
| • identical protein binding (GO:0042802) |
Pathways
• No curated pathways
Protein Summary
The SAMD13 protein (UniProt Q6UWE7) is 244 amino acids long and contains a single sterile alpha motif (SAM) domain (residues 31-98). SAM domains are known to mediate homodimerization or heterodimerization with other SAM-containing proteins, and may also bind RNA or lipids. The function of SAMD13 is not fully characterized, but it is predicted to play a role in cellular signaling and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD13 Knockout HEK293 Cell Line | EDJ-KQ10048 | Human | 148418 | Details Get a Quote |
| SAMD13 Knockout A-549 Cell Line | EDJ-KQ38367 | Human | 148418 | Details Get a Quote |
| SAMD13 Knockout HCT 116 Cell Line | EDJ-KQ38368 | Human | 148418 | Details Get a Quote |
| SAMD13 Knockout HeLa Cell Line | EDJ-KQ58608 | Human | 148418 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
