SAMD9 (sterile alpha motif domain containing 9)

2010-04-01  

Identity

HGNC
SAMD9
LOCATION
7q21.2
LOCUSID
54809
ALIAS
C7orf5,DRIF1,M7MLS2,MIRAGE,NFTC,OEF1,OEF2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54809
MIM: 610456
HGNC: 1348
Ensembl: ENSG00000205413

Variants:

dbSNP: 54809
ClinVar: 54809
TCGA: ENSG00000205413
COSMIC: SAMD9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205413ENST00000379958Q5K651
ENSG00000205413ENST00000446617C9JKF1
ENSG00000205413ENST00000620985Q5K651

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
271829672016SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.47
169608142006A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.40
174076032007Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.37
180947302008Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.32
212480342011M062 is a host range factor essential for myxoma virus pathogenesis and functions as an antagonist of host SAMD9 in human cells.32
211604982011Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.26
254288642015SAMD9 is an innate antiviral host factor with stress response properties that can be antagonized by poxviruses.26
262426272015Identification of Restriction Factors by Human Genome-Wide RNA Interference Screening of Viral Host Range Mutants Exemplified by Discovery of SAMD9 and WDR6 as Inhibitors of the Vaccinia Virus K1L-C7L- Mutant.26
198306902010Sterile alpha motif containing domain 9 is involved in death signaling of malignant glioma treated with inactivated Sendai virus particle (HVJ-E) or type I interferon.25
283462282017Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.24

Citation

Dessen P

SAMD9 (sterile alpha motif domain containing 9)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51426/samd9