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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SAMD12
sterile alpha motif domain containing 12
Chromosome 8 · 8q24.11-q24.12
NCBI Gene: 401474Ensembl: ENSG00000177570.15HGNC: HGNC:31750UniProt: B8ZZB7
24PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell surface receptor protein tyrosine kinase signaling pathwaycytoplasmic side of plasma membranemolecular_functionbenign adult familial myoclonic epilepsyepilepsy, familial adult myoclonictooth diseasemathematical ability
✦AI Summary

SAMD12 (sterile alpha motif domain containing 12) is a multifunctional adaptor protein involved in cell signaling pathways and neurological function. The protein serves as a key regulator in cancer cell motility by coupling AXL receptor tyrosine kinase signaling to ARF6 GTPase activation, promoting cell migration and metastasis 1. SAMD12 functions as a master regulator of MAP4K kinases by binding to CNKSR scaffold proteins with high affinity, effectively displacing MAP4K kinases and modulating neuronal synapse development 2. Disease relevance is primarily established through intronic TTTCA and TTTTA repeat expansions in SAMD12, which cause benign adult familial myoclonic epilepsy (BAFME), a neurological disorder characterized by myoclonic tremor and seizures 3. These pathogenic repeat expansions vary in length and configuration, with longer repeats correlating with earlier disease onset and increased severity 4. The shortest pathogenic TTTCA expansion identified contains only 3 repeats, demonstrating that even minimal expansions can be disease-causing 5. Additionally, reduced SAMD12 expression has been implicated in hepatocellular carcinoma progression, where it acts as a tumor suppressor 6. The protein's involvement in both neurological disorders and cancer highlights its critical role in cellular signaling networks.

Sources cited
1
SAMD12 couples AXL receptor tyrosine kinase signaling to ARF6 GTPase activation, promoting cancer cell migration and metastasis
PMID: 37322019
2
SAMD12 acts as a master regulator of MAP4K kinases by binding to CNKSR scaffold proteins and modulating neuronal synapse development
PMID: 40010432
3
Intronic TTTCA and TTTTA repeat expansions in SAMD12 cause benign adult familial myoclonic epilepsy
PMID: 29507423
4
Longer SAMD12 repeat expansions correlate with earlier disease onset and increased severity
PMID: 37021642
5
The shortest pathogenic TTTCA expansion contains only 3 repeats
PMID: 36740228
6
Reduced SAMD12 expression is implicated in hepatocellular carcinoma progression as a tumor suppressor
PMID: 37228062
Disease Associationsⓘ21
benign adult familial myoclonic epilepsyOpen Targets
0.64Moderate
epilepsy, familial adult myoclonicOpen Targets
0.37Weak
tooth diseaseOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.31Weak
prostate carcinomaOpen Targets
0.30Weak
age-related macular degenerationOpen Targets
0.29Weak
pericarditisOpen Targets
0.28Weak
radius fractureOpen Targets
0.27Weak
ulna fractureOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.25Weak
acneOpen Targets
0.24Weak
ovarian dysfunctionOpen Targets
0.22Weak
response to antihypertensive drugOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.04Suggestive
jaw diseaseOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
Epilepsy, familial adult myoclonic, 1UniProt
Pathogenic Variants1
NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]Pathogenic
Epilepsy, familial adult myoclonic, 1
☆☆☆☆2020
View on ClinVar ↗
Related Genes
STARD7Protein interaction76%RAPGEF2Protein interaction60%SMIM46Shared pathway50%C8orf90Shared pathway50%SMIM44Shared pathway50%C21orf140Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
72%
Liver
28%
Lung
23%
Bone Marrow
20%
Ovary
7%
Gene Interaction Network
Click a node to explore
SAMD12STARD7RAPGEF2SMIM46C8orf90SMIM44C21orf140
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N8I0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.62 [0.37–1.08]
RankingsWhere SAMD12 stands among ~20K protein-coding genes
  • #13,289of 20,598
    Most Researched24
  • #5,334of 5,498
    Most Pathogenic Variants1
  • #10,920of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedSAMD12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
PMID: 29507423
Nat Genet · 2018
1.00
2
CNK2 promotes cancer cell motility by mediating ARF6 activation downstream of AXL signalling.
PMID: 37322019
Nat Commun · 2023
0.90
3
SAMD12 as a Master Regulator of MAP4Ks by Decoupling Kinases From the CNKSR2 Scaffold.
PMID: 40010432
J Mol Biol · 2025
0.80
4
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
PMID: 37021642
Epilepsia · 2023
0.70
5
LncRNA SAMD12-AS1 promotes cell proliferation and inhibits apoptosis by interacting with NPM1.
PMID: 31406141
Sci Rep · 2019
0.60