Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
TYMP thymidine phosphorylase	TP , ECGF , ECGF1 , MNGIE , MEDPS1 , MTDPS1 , PDECGF , hPD-ECGF	Homo sapiens	10	protein-coding		2.4.2.4	131222

Summary

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]

GeneOntology

Function (1)

Go ID	Value	Evidence
0004645	enables 1,4-alpha-oligoglucan phosphorylase activity	IEA

Component (2)

Go ID	Value	Evidence
0005829	is_active_in cytosol	IBA
0005829	located_in cytosol	TAS

Process (12)

Go ID	Value	Evidence
0001525	involved_in angiogenesis	IEA
0030154	involved_in cell differentiation	IEA
0006935	involved_in chemotaxis	IEA
0046074	involved_in dTMP catabolic process	IEA
0000002	involved_in mitochondrial genome maintenance	IMP
0006206	involved_in pyrimidine nucleobase metabolic process	IEA
0006213	involved_in pyrimidine nucleoside metabolic process	IDA
0006213	involved_in pyrimidine nucleoside metabolic process	IMP
1905333	involved_in regulation of gastric motility	IMP
0031641	involved_in regulation of myelination	IMP
0051969	involved_in regulation of transmission of nerve impulse	IMP
0007165	involved_in signal transduction	IEA

Gene Loss events - TYMP (21 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_YBLOFM	Odobenus rosmarus divergens	Carnivora	LOF (frameshift, premature stop, ss)	Full	Carnivora	10.1093/nargab/lqz012