SAMD4A Gene
Sterile Alpha Motif Domain Containing 4A
Gene Information Card
| Symbol | SAMD4A |
|---|---|
| Full Name | Sterile Alpha Motif Domain Containing 4A |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 23034 ncbi.nlm.nih.gov/gene/23034 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9UPU9 |
| OMIM ID | 610747 |
| HGNC ID | 29226 |
| Aliases | SMAUG1, KIAA1053, MGC138290 |
Description
SAMD4A (Sterile Alpha Motif Domain Containing 4A) is a protein-coding gene that encodes an RNA-binding protein involved in post-transcriptional regulation. It contains a sterile alpha motif (SAM) domain and is implicated in mRNA stability, translation control, and cellular differentiation. The gene is conserved across species and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect mRNA targets involved in cell proliferation | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Potential role in neurodevelopment due to expression in brain | Limited evidence from OMIM and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| K562 | 7.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of RNA-binding activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • cytoplasm | • nucleus |
| • regulation of translation | • mRNA stabilization |
Pathways
• mRNA surveillance pathway
• Post-transcriptional regulation of gene expression
Protein Summary
The SAMD4A protein (also known as SMAUG1) is an RNA-binding protein that contains a sterile alpha motif (SAM) domain and a conserved Smaug homology region. It binds to specific mRNA targets and regulates their stability and translation. The protein is involved in developmental processes and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD4A Knockout HEK293 Cell Line | EDJ-KQ7782 | Human | 23034 | Details Get a Quote |
| SAMD4A Knockout HCT 116 Cell Line | EDJ-KQ31943 | Human | 23034 | Details Get a Quote |
| SAMD4A Knockout HeLa Cell Line | EDJ-KQ33267 | Human | 23034 | Details Get a Quote |
| SAMD4A Knockout A-549 Cell Line | EDJ-KQ64176 | Human | 23034 | Details Get a Quote |
