SPR (sepiapterin reductase)

2016-10-01  

Identity

HGNC
SPR
LOCATION
2p13.2
LOCUSID
6697
ALIAS
SDR38C1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6697
MIM: 182125
HGNC: 11257
Ensembl: ENSG00000116096

Variants:

dbSNP: 6697
ClinVar: 6697
TCGA: ENSG00000116096
COSMIC: SPR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116096ENST00000234454P35270

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nitric oxideREACTOMER-HSA-202131
eNOS activation and regulationREACTOMER-HSA-203765
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationREACTOMER-HSA-1474151

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
200389472011Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.101
194911462009Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.35
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
236408892013Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.11
152416552004Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.10
203371882010Sleep and rhythm consequences of a genetically induced loss of serotonin.9
245885002014Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.9
240960792014Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.8
172701572007Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.7
164438562006The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.6

Citation

Dessen P

SPR (sepiapterin reductase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56366/spr