SAMD9L (sterile alpha motif domain containing 9 like)

2015-04-01  

Identity

HGNC
SAMD9L
LOCATION
7q21.2
LOCUSID
219285
ALIAS
ATXPC,C7orf6,DRIF2,M7MLS1,UEF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 219285
MIM: 611170
HGNC: 1349
Ensembl: ENSG00000177409

Variants:

dbSNP: 219285
ClinVar: 219285
TCGA: ENSG00000177409
COSMIC: SAMD9L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177409ENST00000318238Q8IVG5
ENSG00000177409ENST00000411955Q8IVG5
ENSG00000177409ENST00000414791A0A0B4J1Y6
ENSG00000177409ENST00000437805Q8IVG5
ENSG00000177409ENST00000439952A0A0B4J1Y6
ENSG00000177409ENST00000446033A0A0B4J1Y6
ENSG00000177409ENST00000446959A0A0B4J1Y6
ENSG00000177409ENST00000610760Q8IVG5

Expression (GTEx)

0
10
20
30
40
50
60
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
282024572017Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.32
272590502016Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.31
292177782018Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.14
295354292018SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.11
250768572014SAMD9L inactivation promotes cell proliferation via facilitating G1-S transition in hepatitis B virus-associated hepatocellular carcinoma.8
294472492018A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection.8
303228692018Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.2
309230962019A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.2

Citation

Dessen P

SAMD9L (sterile alpha motif domain containing 9 like)

Atlas Genet Cytogenet Oncol Haematol. 2015-04-01

Online version: http://atlasgeneticsoncology.org/gene/55175/samd9l