thymidine phosphorylase

Summary
Gene Symbol
  • TYMP
Aliases
  • gliostatin
Organism
Homo sapiens (human)
External Links
NCBI Gene
1890
HGNC
3148
PubChem
1890
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Angiogenesis
  • Chemotaxis
  • Developmental protein
  • Differentiation
  • Direct protein sequencing
  • Disease variant
  • Glycosyltransferase
  • Growth factor
  • Neuropathy
  • Phosphoprotein
  • Progressive external ophthalmoplegia
  • Reference proteome
  • Repeat
Proteins
Displaying all 3 entries
UniProt Protein Name
E5KRG5
  • TdRPase
B2RBL3
  • TdRPase
P19971
  • Gliostatin
  • Platelet-derived endothelial cell growth factor
  • TdRPase
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
Disease
Disease Ontology
Displaying entries 1 - 10 of 166 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050773 paraganglioma
DOID:0050865 tongue squamous cell carcinoma
DOID:0060074 ductal carcinoma in situ
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060870 isolated growth hormone deficiency
DOID:0060872 isolated growth hormone deficiency type II
DOID:0060873 isolated growth hormone deficiency type IA
DOID:0060874 isolated growth hormone deficiency type IB
The Human Phenotype Ontology
Displaying entries 41 - 50 of 70 in total
HPO ID HPO Term
HP:0003270 Abdominal distention
HP:0003348 Hyperalaninemia
HP:0003387 Decreased number of large peripheral myelinated nerve fibers
HP:0003388 Easy fatigability
HP:0003401 Paresthesia
HP:0003431 Decreased motor nerve conduction velocity
HP:0003448 Decreased sensory nerve conduction velocity
HP:0003477 Peripheral axonal neuropathy
HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003621 Juvenile onset
Displaying all 2 entries
Disease ID Disease Name
ORPHA:298
  • mitochondrial DNA depletion syndrome 1
  • mitochondrial DNA depletion syndrome 4b
  • mitochondrial DNA depletion syndrome 8a
  • mitochondrial neurogastrointestinal encephalomyopathy
OMIM:603041
  • mitochondrial DNA depletion syndrome 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024