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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign rs117020479 RCV005927577
Colon adenocarcinoma Likely benign rs117020479 RCV005927566
Epilepsy, familial adult myoclonic, 1 Uncertain significance rs1827958407, rs918457365 RCV002266879
RCV003993617
Familial cancer of breast Likely benign rs117020479 RCV005927565
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 37228062
Carcinoma Hepatocellular Associate 37228062
Diabetes Mellitus Type 2 Associate 26101197
Epilepsy Myoclonic Benign Adult Familial Type 1 Associate 32203200, 32973343, 33681653, 33721773, 37890330
Epilepsy Myoclonic Benign Adult Familial Type 2 Associate 31664039, 36740228
Esophageal Neoplasms Associate 35840890
Glioma Associate 31646576
Hypertension Associate 32915819
Liver Cirrhosis Associate 37228062
Neoplasms Associate 31406141