SAMD14: Sterile Alpha Motif Domain Containing 14
A gene encoding a protein with a sterile alpha motif (SAM) domain, involved in transcriptional regulation and potentially linked to cancer and developmental processes.
Gene Information Card
| Symbol | SAMD14 |
|---|---|
| Full Name | Sterile Alpha Motif Domain Containing 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 201191 ncbi.nlm.nih.gov/gene/201191 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N6P3 |
| OMIM ID | 617557 |
| HGNC ID | 26918 |
| Aliases | FLJ32709, MGC138499 |
Description
SAMD14 (Sterile Alpha Motif Domain Containing 14) is a protein-coding gene located on chromosome 17q21.31. The encoded protein contains a sterile alpha motif (SAM) domain, which is involved in protein-protein interactions and transcriptional regulation. SAMD14 is expressed in various tissues and has been implicated in cancer and developmental processes. Its exact biological function is still under investigation, but it may play a role in cell signaling and gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in tumorigenesis through altered expression; mechanism not fully elucidated. | COSMIC, NCBI Gene |
| Prostate cancer | SAMD14 expression changes observed; possible involvement in cancer progression. | COSMIC, NCBI Gene |
| Developmental disorders | Mutations in SAMD14 may contribute to neurodevelopmental phenotypes; limited evidence. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Breast | 4.1 | Low |
| Prostate | 6.0 | Medium |
| Testis | 8.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 4.5 | Moderate expression |
| PC3 (prostate cancer) | 6.2 | Moderate expression |
| HEK293 (embryonic kidney) | 3.0 | Low expression |
| K562 (leukemia) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift insertion | <0.01% | Likely loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567_568insA) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SAMD14.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SAMD14.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• Not assigned to any specific pathway in major databases.
Protein Summary
The SAMD14 protein (UniProt Q8N6P3) is 412 amino acids long and contains a sterile alpha motif (SAM) domain at the N-terminus. SAM domains are known to mediate protein-protein interactions and are often involved in transcriptional regulation and signal transduction. The protein is localized to the nucleus and may function as a transcriptional regulator. Its precise role in cellular processes remains to be fully elucidated, but it is expressed in multiple tissues and shows altered expression in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD14 Knockout HEK293 Cell Line | EDJ-KQ4747 | Human | 201191 | Details Get a Quote |
| SAMD14 Knockout HeLa Cell Line | EDJ-KQ27502 | Human | 201191 | Details Get a Quote |
| SAMD14 Knockout A-549 Cell Line | EDJ-KQ67498 | Human | 201191 | Details Get a Quote |
| SAMD14 Knockout HCT 116 Cell Line | EDJ-KQ75896 | Human | 201191 | Details Get a Quote |
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