SF3A2 (splicing factor 3a subunit 2)

2014-08-01  

Identity

HGNC
SF3A2
LOCATION
19p13.3
LOCUSID
8175
ALIAS
PRP11,PRPF11,SAP62,SF3a66
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8175
MIM: 600796
HGNC: 10766
Ensembl: ENSG00000104897

Variants:

dbSNP: 8175
ClinVar: 8175
TCGA: ENSG00000104897
COSMIC: SF3A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104897ENST00000221494Q15428
ENSG00000104897ENST00000586396K7EMT0

Expression (GTEx)

0
50
100
150
200
250
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
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, U2-snRNPKEGGM00352
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

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
156473712005Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
249166482015A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.12
304752062018Splicing factors Sf3A2 and Prp31 have direct roles in mitotic chromosome segregation.4

Citation

Dessen P

SF3A2 (splicing factor 3a subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54612/sf3a2