SAMD12 - sterile alpha motif domain containing 12 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 401474

About SAMD12

Cytogenetic location: 8q24.11-q24.12 Genomic coordinates (GRCh38): 8:118,131,825-118,621,963 (from NCBI)

This gene has 10 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 2.1), brain (RPKM 2.1) and 22 other tissues.

Summary

Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Apr 2022]

SAMD12 Products (4)

mRNA	Protein	Name
NM_001101676.2	NP_001095146.1	sterile alpha motif domain-containing protein 12 isoform a
NM_001349811.2	NP_001336740.1	sterile alpha motif domain-containing protein 12 isoform c
NM_001363274.2	NP_001350203.1	sterile alpha motif domain-containing protein 12 isoform d
NM_207506.3	NP_997389.2	sterile alpha motif domain-containing protein 12 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAMD12 Protein Structure

SAM_2

0
100
201 a.a.

Protein Preferred Names	Protein Names
sterile alpha motif domain-containing protein 12	SAM domain-containing protein 12

Related Diseases

Diseases	Alias
Epilepsy, Familial Adult Myoclonic, 1	FAME1 Benign Adult Familial Myoclonic Epilepsy 1 Bafme1 Fcmte1 Cortical Myoclonic Tremor With Epilepsy, Familial, 1 Familial Adult Myoclonic Epilepsy 1 Familial Cortical Myoclonic Tremor And Epilepsy 1 Epilepsy, Myoclonic, Familial Adult, Type 1
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Epilepsy, Familial Adult Myoclonic, 6	FAME6 Benign Adult Familial Myoclonic Epilepsy 6 Bafme6 Fcmte6 Cortical Myoclonic Tremor With Epilepsy, Familial, 6 Familial Adult Myoclonic Epilepsy 6 Familial Cortical Myoclonic Tremor And Epilepsy 6 Epilepsy, Myoclonic, Familial Adult, Type 6
Epilepsy, Familial Adult Myoclonic, 7	FAME7 Bafme7 Fcmte7 Benign Adult Familial Myoclonic Epilepsy 7 Cortical Myoclonic Tremor With Epilepsy, Familial, 7 Familial Adult Myoclonic Epilepsy 7 Familial Cortical Myoclonic Tremor And Epilepsy 7 Benign Adult Familial Myoclonic Epilepsy 27 Epilepsy, Myoclonic, Familial Adult, Type 7
Adolescence-Adult Electroclinical Syndrome
Epilepsy, Familial Adult Myoclonic, 2	FAME2 Benign Adult Familial Myoclonic Epilepsy 2 Bafme2 Fcmte2 Adcme Cortical Myoclonic Tremor With Epilepsy, Familial, 2 Cortical Myoclonus And Epilepsy, Autosomal Dominant Familial Adult Myoclonic Epilepsy 2 Epilepsy, Myoclonic, Benign Adult Familial, Type 2 Autosomal Dominant Cortical Myoclonus And Epilepsy Familial Cortical Myoclonic Tremor And Epilepsy 2 Epilepsy, Myoclonic, Familial Adult, Type 2
Epilepsy, Familial Adult Myoclonic, 3	FAME3 Fcmte3 Cortical Myoclonic Tremor With Epilepsy, Familial, 3 Familial Adult Myoclonic Epilepsy 3 Familial Cortical Myoclonic Tremor And Epilepsy 3 Epilepsy, Myoclonic, Familial Adult, Type 3
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Epilepsy, Familial Adult Myoclonic, 4	FAME4 Fcmte4 Cortical Myoclonic Tremor With Epilepsy, Familial, 4 Familial Adult Myoclonic Epilepsy 4 Epilepsy, Myoclonic, Familial Adult, 4 Familial Cortical Myoclonic Tremor And Epilepsy 4 Epilepsy, Myoclonic, Familial Adult, Type 4
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Spinocerebellar Ataxia 37	Spinocerebellar Ataxia Type 37 SCA37 Spinocerebellar Ataxia With Altered Vertical Eye Movements
Cardiomyopathy, Dilated, 1hh	Dilated Cardiomyopathy 1hh CMD1HH Cardiomyopathy, Dilated 1hh Cardiomyopathy, Dilated, Type 1hh
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Mild Cognitive Impairment
Spinocerebellar Ataxia 36	Spinocerebellar Ataxia Type 36 SCA36 Asidan Ataxia Costa De Morte Ataxia Asidan Ataxia, Spinocerebellar, Type 36
Dihydropyrimidine Dehydrogenase Deficiency	Dpd Deficiency Familial Pyrimidinemia Hereditary Thymine-Uraciluria Dihydropyrimidinuria Dpyd Deficiency Thymine-Uraciluria, Hereditary Pyrimidinemia, Familial 5-Fluorouracil Toxicity Dihydrouracil Dehydrogenase Deficiency Familial Pyrimidinaemia Thymine-Uracilurea Familial Pyrimidemia Pyrimidinemia Familial DPYDD
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12424	SAMD12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SAMD12	VGNC	VGNC:77145
Mus musculus	SAMD12	MGD	MGI:2444518
Bos taurus	SAMD12	VGNC	VGNC:34267
Rattus norvegicus	SAMD12	RGD	RGD:1561402
Canis familiaris	SAMD12	VGNC	VGNC:49882
Others	SAMD12	NCBI