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 31 - 40 of 166 in total
DO ID Disease Name Source
DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia
DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia
DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia
DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia
DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia
DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia
DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia
DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia
DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia
DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia
The Human Phenotype Ontology
Displaying entries 31 - 40 of 70 in total
HPO ID HPO Term
HP:0002500 Abnormal cerebral white matter morphology
HP:0002522 Areflexia of lower limbs
HP:0002578 Gastroparesis
HP:0002579 Gastrointestinal dysmotility
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0002922 Increased CSF protein concentration
HP:0002936 Distal sensory impairment
HP:0003128 Lactic acidosis
HP:0003199 Decreased muscle mass
HP:0003200 Ragged-red muscle fibers
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