SAMD8 (sterile alpha motif domain containing 8)

2014-08-01  

Identity

HGNC
SAMD8
LOCATION
10q22.2
LOCUSID
142891
ALIAS
HEL-177,SMSr
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 142891
MIM: 611575
HGNC: 26320
Ensembl: ENSG00000156671

Variants:

dbSNP: 142891
ClinVar: 142891
TCGA: ENSG00000156671
COSMIC: SAMD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156671ENST00000372687V9HVY4
ENSG00000156671ENST00000447533Q5JSC9
ENSG00000156671ENST00000542569Q96LT4
ENSG00000156671ENST00000649316A0A3B3IT94
ENSG00000156671ENST00000671800Q96LT4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
371664452023Diacylglycerol kinase ζ interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions.1
375865862023Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease.1
371664452023Diacylglycerol kinase ζ interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions.1
375865862023Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease.1
336215172021Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide.11
336215172021Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide.11
286594952017Ceramide phosphoethanolamine synthase SMSr is a target of caspase-6 during apoptotic cell death.3
286594952017Ceramide phosphoethanolamine synthase SMSr is a target of caspase-6 during apoptotic cell death.3
242596702014Sphingomyelin synthase-related protein SMSr is a suppressor of ceramide-induced mitochondrial apoptosis.28
242596702014Sphingomyelin synthase-related protein SMSr is a suppressor of ceramide-induced mitochondrial apoptosis.28
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Dessen P

SAMD8 (sterile alpha motif domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54599/js/lib/case-report-explorer/css/template-nav.css