Gene Gene information from NCBI Gene database.
Entrez ID 401474
Gene name Sterile alpha motif domain containing 12
Gene symbol SAMD12
Synonyms (NCBI Gene)
BAFMEBAFME1FAMEFAME1FCMTE1MEBA
Chromosome 8
Chromosome location 8q24.11-q24.12
miRNA miRNA information provided by mirtarbase database.
745
miRTarBase ID miRNA Experiments Reference
MIRT019553 hsa-miR-340-5p Sequencing 20371350
MIRT028085 hsa-miR-93-5p Sequencing 20371350
MIRT521255 hsa-miR-6758-5p HITS-CLIP 21572407
MIRT521254 hsa-miR-6856-5p HITS-CLIP 21572407
MIRT521253 hsa-miR-3976 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005575 Component Cellular_component ND
GO:0007169 Process Cell surface receptor protein tyrosine kinase signaling pathway IBA
GO:0008150 Process Biological_process ND
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618073 31750 ENSG00000177570
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8I0
Protein name Sterile alpha motif domain-containing protein 12 (SAM domain-containing protein 12)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07647 SAM_2 74 141 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000269|PubMed:29507423}.
Sequence
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEA
ETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLE
RMGIAQENLRQHILQQVLQLK
VREEVRNLQLLTQGTLLLPDGWMDGEIRRKTTLLLGQTG
VRENLLLFLHRISIIENSIQI
Sequence length 201
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30617039
★☆☆☆☆
Found in Text Mining only
Benign adult familial myoclonic epilepsy Benign Myoclonic Epilepsy BEFREE 12943675, 18231815, 19054410, 29507423
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Benign adult familial myoclonic epilepsy Benign Myoclonic Epilepsy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Benign Infantile Myoclonic Epilepsy Myoclonic Epilepsy CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37228062 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37228062 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 28493452
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 30354650, 30840026
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 30354650, 30840026
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 30354650, 30840026
★☆☆☆☆
Found in Text Mining only