Entry - *617340 - URIDINE PHOSPHORYLASE 2; UPP2 - OMIM

 
 
* 617340

URIDINE PHOSPHORYLASE 2; UPP2


Alternative titles; symbols

UPase2


HGNC Approved Gene Symbol: UPP2

Cytogenetic location: 2q24.1     Genomic coordinates (GRCh38): 2:157,995,179-158,136,154 (from NCBI)


TEXT

▼ Description

Uridine phosphorylases, such as UPP2, catalyze the reversible phosphorylytic cleavage of uridine or deoxyuridine to ribose- or deoxyribose-1-phosphate, respectively. UPP2 can also use thymidine as a substrate (Johansson, 2003).


▼ Cloning and Expression

By EST database analysis, Johansson (2003) identified human UPP2. The deduced 317-amino acid UPP2 protein has a predicted molecular mass of 35.6 kD. It shares about 60% amino acid identity with human UPP1 (191730) and about 85% identity with its mouse ortholog. Northern blot analysis of human tissues detected a 2.2-kb UPP2 mRNA primarily in kidney, with lower levels in spleen and liver. Expression was not detected in other normal tissues or in tumor tissues. Mouse Upp2 was predominantly expressed in liver, with low expression in kidney and brain.


▼ Gene Function

Using recombinant human UPP2, Johansson (2003) determined that UPP2 accepted uridine, deoxyuridine, and thymidine as substrates, with a preference for uridine.


▼ Gene Structure

Johansson (2003) determined that the UPP2 gene contains 9 exons and spans about 150 kb. The first 2 exons are noncoding.


▼ Mapping

By genomic sequence analysis, Johansson (2003) mapped the UPP2 gene to chromosome 2q24.1.


▼ REFERENCES

  1. Johansson, M. Identification of a novel human uridine phosphorylase. Biochem. Biophys. Res. Commun. 307: 41-46, 2003. [PubMed: 12849978, related citations] [Full Text]


Creation Date:
Genay O. Pilarowski : 02/07/2017
Edit History:
mgross : 02/07/2017

* 617340

URIDINE PHOSPHORYLASE 2; UPP2


Alternative titles; symbols

UPase2


HGNC Approved Gene Symbol: UPP2

Cytogenetic location: 2q24.1     Genomic coordinates (GRCh38): 2:157,995,179-158,136,154 (from NCBI)


TEXT

Description

Uridine phosphorylases, such as UPP2, catalyze the reversible phosphorylytic cleavage of uridine or deoxyuridine to ribose- or deoxyribose-1-phosphate, respectively. UPP2 can also use thymidine as a substrate (Johansson, 2003).


Cloning and Expression

By EST database analysis, Johansson (2003) identified human UPP2. The deduced 317-amino acid UPP2 protein has a predicted molecular mass of 35.6 kD. It shares about 60% amino acid identity with human UPP1 (191730) and about 85% identity with its mouse ortholog. Northern blot analysis of human tissues detected a 2.2-kb UPP2 mRNA primarily in kidney, with lower levels in spleen and liver. Expression was not detected in other normal tissues or in tumor tissues. Mouse Upp2 was predominantly expressed in liver, with low expression in kidney and brain.


Gene Function

Using recombinant human UPP2, Johansson (2003) determined that UPP2 accepted uridine, deoxyuridine, and thymidine as substrates, with a preference for uridine.


Gene Structure

Johansson (2003) determined that the UPP2 gene contains 9 exons and spans about 150 kb. The first 2 exons are noncoding.


Mapping

By genomic sequence analysis, Johansson (2003) mapped the UPP2 gene to chromosome 2q24.1.


REFERENCES

  1. Johansson, M. Identification of a novel human uridine phosphorylase. Biochem. Biophys. Res. Commun. 307: 41-46, 2003. [PubMed: 12849978] [Full Text: https://doi.org/10.1016/s0006-291x(03)01062-3]


Creation Date:
Genay O. Pilarowski : 02/07/2017

Edit History:
mgross : 02/07/2017



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 23, 2024