Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 401474
MIM: 618073
HGNC: 31750
Ensembl: ENSG00000177570
Variants:
dbSNP: 401474
ClinVar: 401474
TCGA: ENSG00000177570
COSMIC: SAMD12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000177570 | ENST00000314727 | Q8N8I0 |
| ENSG00000177570 | ENST00000409003 | B8ZZB7 |
| ENSG00000177570 | ENST00000445741 | F8VYB8 |
| ENSG00000177570 | ENST00000524796 | H0YEJ0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37228062 | 2023 | Liver fibrosis-derived exosomal miR-106a-5p facilitates the malignancy by targeting SAMD12 and CADM2 in hepatocellular carcinoma. | 3 |
| 37228062 | 2023 | Liver fibrosis-derived exosomal miR-106a-5p facilitates the malignancy by targeting SAMD12 and CADM2 in hepatocellular carcinoma. | 3 |
| 32973343 | 2021 | Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1. | 9 |
| 33040085 | 2021 | DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A. | 5 |
| 33681653 | 2021 | Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. | 4 |
| 32973343 | 2021 | Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1. | 9 |
| 33040085 | 2021 | DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A. | 5 |
| 33681653 | 2021 | Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. | 4 |
| 32203200 | 2020 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | 13 |
| 32203200 | 2020 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | 13 |
| 30194086 | 2019 | Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. | 43 |
| 31406141 | 2019 | LncRNA SAMD12-AS1 promotes cell proliferation and inhibits apoptosis by interacting with NPM1. | 20 |
| 31483537 | 2019 | Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy. | 10 |
| 31646576 | 2019 | LncRNA SAMD12-AS1 down-regulates P53 to promote malignant progression of glioma. | 7 |
| 30194086 | 2019 | Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. | 43 |
Citation
Dessen P
SAMD12 (sterile alpha motif domain containing 12)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/53042/samd12-(sterile-alpha-motif-domain-containing-12)
