SAMD4B Gene
Sterile Alpha Motif Domain Containing 4B
Gene Information Card
| Symbol | SAMD4B |
|---|---|
| Full Name | Sterile Alpha Motif Domain Containing 4B |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 55095 ncbi.nlm.nih.gov/gene/55095 |
| Ensembl ID | ENSG00000104964 |
| UniProt ID | Q5PRF9 |
| OMIM ID | 614720 |
| HGNC ID | 25485 |
| Aliases | SMA4, SMAD4B, KIAA1915 |
Description
SAMD4B encodes a protein containing a sterile alpha motif (SAM) domain, which is involved in protein-protein interactions and RNA binding. The gene is implicated in post-transcriptional regulation and may play a role in cellular differentiation and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • cytoplasm | • nucleus |
Pathways
• No specific pathway annotated
Protein Summary
The SAMD4B protein contains a sterile alpha motif (SAM) domain and is localized to the cytoplasm and nucleus. It is thought to participate in RNA metabolism and protein interactions, but its precise molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
