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
376124992024PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.0
376124992024PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.0
367570502023SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3β/β-Catenin Signaling.8
368940522023Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.0
373570062023[Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].0
367570502023SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3β/β-Catenin Signaling.8
368940522023Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.0
373570062023[Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].0
360609592022Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.3
360609592022Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.3
337318502021Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.22
339360932021SAMD9 Is Relating With M2 Macrophage and Remarkable Malignancy Characters in Low-Grade Glioma.16
346210532021Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.48
337318502021Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.22
339360932021SAMD9 Is Relating With M2 Macrophage and Remarkable Malignancy Characters in Low-Grade Glioma.16

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