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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SAMD5
sterile alpha motif domain containing 5
Chromosome 6 · 6q24.3
NCBI Gene: 389432Ensembl: ENSG00000203727.4HGNC: HGNC:21180UniProt: Q5TGI4
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmregulation of intracellular signal transductioncomplicationmajor depressive disorderrestless legs syndromeosteoarthritis, knee
✦AI Summary

SAMD5 (sterile alpha motif domain containing 5) is a cytoplasmic signaling regulator with context-dependent roles in cell proliferation and disease pathology. In breast cancer, SAMD5 functions as a tumor suppressor, with overexpression significantly reducing triple-negative breast cancer (TNBC) cell viability, colony formation, and invasion by downregulating the c-Myc signaling pathway and its effectors (β-catenin, CDK4, CDK6, Cyclin D1) 1. This suppressive activity occurs through negative regulation of Polo-like Kinase 1 (PLK1), as PLK1 overexpression counteracts SAMD5's inhibitory effects 1. In vivo xenograft studies confirmed that SAMD5 overexpression reduced tumor weight and volume 1. Conversely, in prostate cancer, SAMD5 mRNA is upregulated and independently predicts biochemical recurrence after radical prostatectomy, indicating oncogenic properties in this context 2. SAMD5 also shows disease association relevance: an intronic variant (rs844586) associates with intrathecal IgG synthesis in multiple sclerosis, independent of MHC effects 3, while a male-specific locus near SAMD5 shows protective association with renal cell carcinoma 4. Additionally, SAMD5 genetic variants on chromosome 6 contribute to aerobic fitness responses to high-intensity interval training, potentially via angiogenic pathways 5. SAMD5 expression patterns vary by tissue context, with nuclear localization in cholangiocarcinoma but cytoplasmic expression in normal bile ducts 6.

Sources cited
1
SAMD5 acts as tumor suppressor in TNBC by inhibiting c-Myc pathway and PLK1, reducing cell viability, colony formation, invasion, and tumor growth in vivo
PMID: 39524172
2
SAMD5 mRNA overexpressed in prostate cancer and independently predicts biochemical recurrence after radical prostatectomy
PMID: 30739268
3
SAMD5 intronic variant rs844586 associates genome-wide significantly with intrathecal IgG synthesis in multiple sclerosis independent of MHC region
PMID: 41092258
4
Male-specific SAMD5 locus at 6q24.3 shows protective association with renal cell carcinoma risk
PMID: 31231134
5
SAMD5 genetic variants on chromosome 6 associated with VO2max response to high-intensity interval training, potentially via angiogenic pathways
PMID: 37170954
6
SAMD5 shows cytoplasmic expression in normal bile ducts but nuclear localization in cholangiocarcinoma; associated with cell cycle regulation and malignancy
PMID: 28388653
7
SAMD5 among top 12 genes with consistent differential expression in depression, with sex-specific expression patterns
PMID: 33414381
8
Novel SAMD5-SASH1 gene fusion identified in skull base chordoma
PMID: 27901492
Disease Associationsⓘ20
complicationOpen Targets
0.41Moderate
major depressive disorderOpen Targets
0.40Moderate
restless legs syndromeOpen Targets
0.39Weak
osteoarthritis, kneeOpen Targets
0.38Weak
insomniaOpen Targets
0.37Weak
Herpes ZosterOpen Targets
0.32Weak
trauma complicationOpen Targets
0.32Weak
severe acute respiratory syndromeOpen Targets
0.32Weak
COVID-19Open Targets
0.31Weak
nervous system diseaseOpen Targets
0.31Weak
medical procedureOpen Targets
0.31Weak
drug allergyOpen Targets
0.31Weak
osteoarthritis, hipOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.28Weak
autoimmune diseaseOpen Targets
0.28Weak
seborrheic keratosisOpen Targets
0.27Weak
benign colon neoplasmOpen Targets
0.26Weak
placental retentionOpen Targets
0.22Weak
MyoclonusOpen Targets
0.21Weak
pathological myopiaOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SASH1Protein interaction94%PPM1KShared pathway50%RASAL3Shared pathway50%ANKRD54Shared pathway50%OBSCNShared pathway33%SAMSN1Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
21%
Heart
15%
Brain
6%
Ovary
4%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SAMD5SASH1PPM1KRASAL3ANKRD54OBSCNSAMSN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5TGI4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.61–1.76]
RankingsWhere SAMD5 stands among ~20K protein-coding genes
  • #18,198of 20,598
    Most Researched6
  • #16,385of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedSAMD5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sterile Alpha Motif Domain-Containing 5 Suppresses Malignant Phenotypes and Tumor Growth in Breast Cancer: Regulation of Polo-Like Kinase 1 and c-Myc Signaling in a Xenograft Model.
PMID: 39524172
Cureus · 2024
1.00
2
Genomic and transcriptomic characterization of skull base chordoma.
PMID: 27901492
Oncotarget · 2017
0.90
3
Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis.
PMID: 41092258
Neurol Neuroimmunol Neuroinflamm · 2025
0.80
4
Expression and localization of sterile alpha motif domain containing 5 is associated with cell type and malignancy of biliary tree.
PMID: 28388653
PLoS One · 2017
0.70
5
SAMD5 mRNA was overexpressed in prostate cancer and can predict biochemical recurrence after radical prostatectomy.
PMID: 30739268
Int Urol Nephrol · 2019
0.60