SNRPD3 (small nuclear ribonucleoprotein D3 polypeptide)

2014-11-01  

Identity

HGNC
SNRPD3
LOCATION
22q11.23
LOCUSID
6634
ALIAS
SMD3,Sm-D3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6634
MIM: 601062
HGNC: 11160
Ensembl: ENSG00000100028

Variants:

dbSNP: 6634
ClinVar: 6634
TCGA: ENSG00000100028
COSMIC: SNRPD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100028ENST00000215829P62318
ENSG00000100028ENST00000402849P62318

Expression (GTEx)

0
50
100
150
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
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U1-snRNPKEGGhsa_M00351
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Sm core complexKEGGhsa_M00398
Spliceosome, U1-snRNPKEGGM00351
Spliceosome, U2-snRNPKEGGM00352
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Sm core complexKEGGM00398
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165
Processing of Capped Intronless Pre-mRNAREACTOMER-HSA-75067
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAsREACTOMER-HSA-77588
SLBP independent Processing of Histone Pre-mRNAsREACTOMER-HSA-111367
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
380495642024MYCN and SNRPD3 cooperate to maintain a balance of alternative splicing events that drives neuroblastoma progression.0
382418132024Cancer-associated SNRPD3 mutation confers resistance to hypoxia, which is attenuated by DRP1 inhibition.0
380495642024MYCN and SNRPD3 cooperate to maintain a balance of alternative splicing events that drives neuroblastoma progression.0
382418132024Cancer-associated SNRPD3 mutation confers resistance to hypoxia, which is attenuated by DRP1 inhibition.0
325454832020Silencing Core Spliceosome Sm Gene Expression Induces a Cytotoxic Splicing Switch in the Proteasome Subunit Beta 3 mRNA in Non-Small Cell Lung Cancer Cells.11
325454832020Silencing Core Spliceosome Sm Gene Expression Induces a Cytotoxic Splicing Switch in the Proteasome Subunit Beta 3 mRNA in Non-Small Cell Lung Cancer Cells.11
156421392005Identification of a SmD3 epitope with a single symmetrical dimethylation of an arginine residue as a specific target of a subpopulation of anti-Sm antibodies.27
156421392005Identification of a SmD3 epitope with a single symmetrical dimethylation of an arginine residue as a specific target of a subpopulation of anti-Sm antibodies.27

Citation

Dessen P

SNRPD3 (small nuclear ribonucleoprotein D3 polypeptide)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74039