Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
401474
Gene name Gene Name - the full gene name approved by the HGNC.
Sterile alpha motif domain containing 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAMD12
Synonyms (NCBI Gene) Gene synonyms aliases
BAFME, BAFME1, FAME, FAME1, FCMTE1, MEBA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FAME1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.11-q24.12
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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:0008150 Process Biological_process ND
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618073 31750 ENSG00000177570
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Myoclonic encephalopathy Myoclonic Encephalopathy rs121918334, rs587777631, rs797045969, rs1554965669, rs1565035177, rs1195505218 29507423
Myoclonic epilepsy Myoclonic Epilepsy, Idiopathic Myoclonic Epilepsy, Symptomatic Myoclonic Epilepsy, Early Childhood Epilepsy, Myoclonic, Benign Infantile Myoclonic Epilepsy, Infantile Severe Myoclonic Epilepsy, Epilepsy, Myoclonic, Infantile, EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629
View all (378 more)
29507423, 29939203
Seizure Generalized seizures, Tonic - clonic seizures rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)
Unknown
Disease term Disease name Evidence References Source
Benign Myoclonic Epilepsy benign adult familial myoclonic epilepsy GenCC
Myoclonic Epilepsy epilepsy, familial adult myoclonic, 1 GenCC
Pancreatitis Pancreatitis GWAS
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
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