UPP2 (uridine phosphorylase 2)

2014-11-01 Affiliation

Identity

HGNC

UPP2

LOCATION

2q24.1

LOCUSID

151531

ALIAS

UDRPASE2,UP2,UPASE2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 151531
MIM: 617340
HGNC: 23061
Ensembl: ENSG00000007001

Variants:

dbSNP: 151531
ClinVar: 151531
TCGA: ENSG00000007001
COSMIC: UPP2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000007001	ENST00000005756	O95045
ENSG00000007001	ENST00000005756	A0A0S2Z634
ENSG00000007001	ENST00000605860	O95045

Expression (GTEx)

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

Pathway	Source	External ID
Pyrimidine metabolism	KEGG	ko00240
Drug metabolism - other enzymes	KEGG	ko00983
Pyrimidine metabolism	KEGG	hsa00240
Drug metabolism - other enzymes	KEGG	hsa00983
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Pyrimidine metabolism	REACTOME	R-HSA-73848
Pyrimidine salvage reactions	REACTOME	R-HSA-73614
Pyrimidine catabolism	REACTOME	R-HSA-73621

References

Pubmed ID	Year	Title	Citations
19401682	2010	High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.	52
21151189	2012	Allowing for sex differences increases power in a GWAS of multiplex Autism families.	17
12849978	2003	Identification of a novel human uridine phosphorylase.	12
21855639	2011	A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity.	4

Citation

Dessen P

UPP2 (uridine phosphorylase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75500/upp2