SMG9 (SMG9 nonsense mediated mRNA decay factor)

2014-11-01  

Identity

HGNC
SMG9
LOCATION
19q13.31
LOCUSID
56006
ALIAS
C19orf61,F17127_1,HBMS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56006
MIM: 613176
HGNC: 25763
Ensembl: ENSG00000105771

Variants:

dbSNP: 56006
ClinVar: 56006
TCGA: ENSG00000105771
COSMIC: SMG9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105771ENST00000270066Q9H0W8
ENSG00000105771ENST00000270066A0A024R0Q0
ENSG00000105771ENST00000596714M0QZH1
ENSG00000105771ENST00000597586M0R2N0
ENSG00000105771ENST00000597598M0R0U0
ENSG00000105771ENST00000599804M0QX70
ENSG00000105771ENST00000601170Q9H0W8
ENSG00000105771ENST00000601925M0QYR7
ENSG00000105771ENST00000602222M0QZC7

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

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957

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
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
347615172022Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.2
350871842022A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.7
353217232022Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.0
347615172022Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.2
350871842022A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.7
353217232022Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.0
341469072021SMG9 drives ferroptosis by directly inhibiting GPX4 degradation.18
341469072021SMG9 drives ferroptosis by directly inhibiting GPX4 degradation.18
324121692020SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.3
324693122020Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.16
324121692020SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.3
324693122020Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.16
309027862019MicroRNA 4651 regulates nonsense-mediated mRNA decay by targeting SMG9 mRNA.2
317294662019Cryo-EM structure of SMG1-SMG8-SMG9 complex.13
317924492019InsP(6) binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex.20

Citation

Dessen P

SMG9 (SMG9 nonsense mediated mRNA decay factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73559