SAMD12 - sterile alpha motif domain containing 12 Gene

Homo sapiens

Gene ID: 401474 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.