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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SAMD10
sterile alpha motif domain containing 10
Chromosome 20 Β· 20q13.33
NCBI Gene: 140700Ensembl: ENSG00000130590.14HGNC: HGNC:16129UniProt: Q9BYL1
8PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell surface receptor protein tyrosine kinase signaling pathwaycytoplasmic side of plasma membraneAbnormality of the skeletal systembasal cell carcinomaVaricose veinshypertension
✦AI Summary

SAMD10 (sterile alpha motif domain containing 10) is a regulatory protein involved in receptor signaling and cellular stress responses. Its primary function involves modulating MAP4K kinase activity through interaction with CNKSR scaffold proteins. SAMD10 and its homolog SAMD12 bind to CNKSR1/2/3 scaffolds with exceptionally high affinity and can quantitatively displace MAP4K kinases (including TNIK, MAP4K4, and MINK1) from these scaffolds, thereby regulating kinase availability and neuronal synapse development 1. At the molecular level, SAMD10 localizes to the cytoplasmic side of the plasma membrane and participates in cell surface receptor protein tyrosine kinase signaling pathways, suggesting roles in signal transduction regulation. SAMD10 has emerging clinical significance through multiple disease contexts. Its close homolog SAMD12 is established as a familial adult myoclonic epilepsy disease gene, with implications that SAMD10 may contribute to neurodevelopmental and neurological disorders through disruption of synaptic development via TNIK inhibition 1. Additionally, SAMD10 expression in skin tissue is sensitive to environmental mercury exposure, showing significant associations with plasma total mercury levels within normal ranges and specifically linking to mitochondrial oxidative phosphorylation dysfunction 2. This suggests SAMD10 may serve as a biomarker for heavy metal-induced metabolic stress, particularly in mitochondrial energy metabolism.

Sources cited
1
SAMD10 binds CNKSR scaffolds with high affinity and displaces MAP4K kinases; related to synaptic development and neurological function through regulation of TNIK
PMID: 40010432
2
SAMD10 expression in skin tissue is significantly associated with plasma mercury levels and linked to mitochondrial oxidative phosphorylation pathway dysfunction
PMID: 39818154
3
SAMD10 was identified as an age-dependent DNA methylation marker in forensic age-prediction studies
PMID: 28841467
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜13
Abnormality of the skeletal systemOpen Targets
0.18Weak
basal cell carcinomaOpen Targets
0.03Suggestive
Varicose veinsOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PILRBShared pathway100%DOK4Shared pathway100%DOK5Shared pathway100%GAB4Shared pathway100%ROR2Shared pathway50%FRKShared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
88%
Liver
88%
Heart
56%
Lung
38%
Ovary
7%
Gene Interaction Network
Click a node to explore
SAMD10PILRBDOK4DOK5GAB4ROR2FRK
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BYL1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.52–1.17]
RankingsWhere SAMD10 stands among ~20K protein-coding genes
  • #17,704of 20,598
    Most Researched8
  • #12,239of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedSAMD10
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
SAMD12 as a Master Regulator of MAP4Ks by Decoupling Kinases From the CNKSR2 Scaffold.
PMID: 40010432
J Mol Biol Β· 2025
1.00
2
Chronological age prediction based on DNA methylation: Massive parallel sequencing and random forest regression.
PMID: 28841467
Forensic Sci Int Genet Β· 2017
0.67
3
Quantification of heavy metal exposure in a British population cohort links total mercury levels in plasma with skin tissue-specific changes in mitochondrial-related gene expression.
PMID: 39818154
Sci Total Environ Β· 2025
0.33