Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1890
Gene name	Thymidine phosphorylase
Gene symbol	TYMP
Synonyms (NCBI Gene)	ECGFECGF1MEDPS1MNGIEMTDPS1PDECGFTPhPD-ECGF
Chromosome	22
Chromosome location	22q13.33
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 ha

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931613	C>T	Pathogenic	Coding sequence variant, missense variant
rs121913037	C>T	Pathogenic	Coding sequence variant, missense variant
rs121913038	C>T	Pathogenic	Coding sequence variant, missense variant
rs188802138	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199901350	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs749827433	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs752137335	T>G	Pathogenic	Coding sequence variant, missense variant
rs764792655	A>-	Pathogenic	Coding sequence variant, stop gained
rs767245071	C>G	Pathogenic	Splice acceptor variant
rs786205559	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797044454	A>G,T	Pathogenic	Splice donor variant
rs863224250	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs863224251	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs891107196	G>T	Pathogenic	Missense variant, coding sequence variant
rs1054084896	C>A	Pathogenic	Coding sequence variant, stop gained
rs1064792857	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1064792858	G>C,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1064792859	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064792860	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064792861	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064792862	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064792863	T>C	Pathogenic	Coding sequence variant, missense variant
rs1064792864	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064792880	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1064792886	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1283883810	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048951	hsa-miR-92a-3p	CLASH	23622248

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Unknown	17805539
SP3	Unknown	17805539

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0004645	Function	1,4-alpha-oligoglucan phosphorylase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006206	Process	Pyrimidine nucleobase metabolic process	IEA
GO:0006213	Process	Pyrimidine nucleoside metabolic process	IDA	1590793
GO:0006213	Process	Pyrimidine nucleoside metabolic process	IEA
GO:0006213	Process	Pyrimidine nucleoside metabolic process	IMP	9924029
GO:0006935	Process	Chemotaxis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0009032	Function	Thymidine phosphorylase activity	IDA	1590793
GO:0009032	Function	Thymidine phosphorylase activity	IEA
GO:0009032	Function	Thymidine phosphorylase activity	IMP	9924029
GO:0016154	Function	Pyrimidine-nucleoside phosphorylase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016763	Function	Pentosyltransferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031641	Process	Regulation of myelination	IMP	9924029
GO:0042803	Function	Protein homodimerization activity	IDA	1590793
GO:0046074	Process	DTMP catabolic process	IEA
GO:0051969	Process	Regulation of transmission of nerve impulse	IMP	9924029
GO:0055086	Process	Nucleobase-containing small molecule metabolic process	IEA
GO:0072527	Process	Pyrimidine-containing compound metabolic process	IEA
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1905333	Process	Regulation of gastric motility	IMP	9924029

MIM	HGNC	e!Ensembl
131222	3148	ENSG00000025708

P19971

Protein name

Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliostatin) (Platelet-derived endothelial cell growth factor) (PD-ECGF) (TdRPase)

Protein function

May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro. ; C

PDB

1UOU , 2J0F , 2WK5 , 2WK6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02885	Glycos_trans_3N	37 → 99	Glycosyl transferase family, helical bundle domain	Domain
PF00591	Glycos_transf_3	109 → 340	Glycosyl transferase family, a/b domain	Family
PF07831	PYNP_C	388 → 462	Pyrimidine nucleoside phosphorylase C-terminal domain	Domain

Sequence

MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAA
VVNGSAQGAQIGAMLMAIRLRGMDLEETSVLTQALAQSGQQLEWPEAWRQQLVDKHSTGG
VGDKVSLVLAPALAACGCKVPMISGRGLGHTGGTLDKLESIPGFNVIQSPEQMQVLLDQA
GCCIVGQSEQLVPADGILYAARDVTATVDSLPLITASILSKKLVEGLSALVVDVKFGGAA
VFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPP
DLRDLVTTLGGALLWLSGHAGTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARAL
CSGSPAERRQLLPRAREQEELLAPADGTVELVRALPLALVLHELGAGRSRAGEPLRLGVG
AELLVDVGQRLRRGTPWLRVHRDGPALSGPQSRALQEALVLSDRAPFAAPSPFAELVLPP
QQ

Sequence length

482

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism Bladder cancer		Pyrimidine salvage Pyrimidine catabolism

273

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial DNA depletion syndrome 1	Likely pathogenic; Pathogenic	rs2148683541, rs755728248, rs1178421926, rs1027855768, rs1200609783, rs2069504242, rs1295236603, rs2522519519, rs2522551571, rs2522546758, rs2522513131, rs767575537, rs1064792855, rs1054084896, rs1064792857 View all (83 more)	RCV003463022 RCV003464137 RCV001783996 RCV001805744 RCV002498041 RCV003147714 RCV004571893 RCV002282855 RCV002465088 RCV002468811 RCV003147815 RCV004571218 RCV000208630 RCV000208680 RCV000208699 RCV000208614 RCV000208698 RCV000208640 RCV000208667 RCV000208694 RCV000208638 RCV000208677 RCV000208707 RCV000208704 RCV000208643 RCV000208685 RCV000208713 RCV000208641 RCV000208663 RCV000208618 RCV000208703 RCV000208700 RCV000208710 RCV000208708 RCV000208646 RCV000208689 RCV000208644 RCV000208625 RCV000208684 RCV000208621 RCV000208662 RCV000208672 RCV000208627 RCV000208670 RCV000208711 RCV000208650 RCV000208666 RCV000208709 RCV000208647 RCV000208679 RCV000208645 RCV000208688 RCV000208656 RCV000208696 RCV000208623 RCV000208695 RCV000208678 RCV000208691 RCV000208631 RCV000208673 RCV003466483 RCV003466484 RCV003464756 RCV003466485 RCV003464757 RCV003464758 RCV003466486 RCV003466487 RCV003464759 RCV003464760 RCV005030241 RCV000018133 RCV000018134 RCV000018135 RCV000018136 RCV000018137 RCV000018138 RCV000018139 RCV000018140 RCV000018141 RCV000018142 RCV000018143 RCV000018144 RCV000018145 RCV000018146 RCV004573801 RCV004573802 RCV004573803 RCV004573804 RCV000508782 RCV000508974 RCV000669866 RCV000779376 RCV002501066 RCV000855774 RCV005029567 RCV001027995 RCV005029636 RCV003467749 RCV003469279 RCV003462796 RCV003462808 RCV004570658
Mitochondrial neurogastrointestinal encephalomyopathy	Pathogenic; Likely pathogenic	rs797044454, rs1064792878, rs121913036, rs121913037, rs149977726, rs121913038, rs767245071, rs1603441848	RCV001828033 RCV001828047 RCV001276276 RCV001276278 RCV001831582 RCV001826476 RCV001276279 RCV001825637
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1200609783	RCV005927726
TYMP-related disorder	Likely pathogenic; Pathogenic	rs1200526412, rs797044454	RCV003401967 RCV003417717

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Likely benign	rs760886129	RCV005924349
Intestinal pseudo-obstruction	Conflicting classifications of pathogenicity	rs780690561	RCV005416046

Show/Hide Text Mining Associations (124)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	35109843
Adenocarcinoma	Associate	8398697
Adenocarcinoma of Lung	Associate	11920479, 9052401
Adenoma Pleomorphic	Associate	26031756
Anemia	Associate	17049588
Arthritis Rheumatoid	Associate	12639965, 22534375, 29352846, 35014010
Autism Spectrum Disorder	Associate	23275889
Barrett Esophagus	Associate	17636545
Bile Duct Neoplasms	Associate	20955617
Bone Diseases	Associate	27559096
Bone Resorption	Associate	27559096
Breast Neoplasms	Associate	15150550, 18319546, 18441329, 18765464, 19596923, 8562330, 9137797, 9649140
Bronchiolitis Obliterans Syndrome	Associate	23813863
Cachexia	Associate	17294068
Calcinosis Cutis	Associate	19105824
Carcinoma Basal Cell	Associate	8398697
Carcinoma Ductal	Associate	9137797
Carcinoma Hepatocellular	Associate	30674871, 35265561
Carcinoma in Situ	Associate	10645230
Carcinoma Non Small Cell Lung	Associate	10780522, 15917420, 19654105, 21973306, 23362830, 9052396, 9635852
Carcinoma Ovarian Epithelial	Associate	10206303
Carcinoma Pancreatic Ductal	Associate	35084511
Carcinoma Renal Cell	Associate	11927017, 32737333
Carcinoma Renal Cell	Stimulate	38043946
Carcinoma Squamous Cell	Associate	10098767, 10645230, 16803522, 21934548, 8398697, 8972720
Carcinoma Transitional Cell	Associate	10665652
Charcot Marie Tooth disease Type 2H	Associate	26556829
Cholangiocarcinoma	Associate	20355241, 22912546, 25526478
Colonic Neoplasms	Associate	20665215, 7642571
Colorectal Neoplasms	Associate	10468288, 12841874, 14966914, 16302736, 17695422, 18245778, 18383874, 18630501, 18652704, 26676225, 26676887, 26722420, 35567733, 36090972
COVID 19	Associate	35967328
Cystitis Interstitial	Stimulate	14641413
Cytomegalovirus Infections	Associate	17687334
Dental Caries	Associate	15869869
Diabetes Mellitus	Associate	35109843, 35341481
Diarrhea	Associate	32384880
Drug Related Side Effects and Adverse Reactions	Associate	10468288, 21973306, 23362830, 23813863, 30927276
Drug Related Side Effects and Adverse Reactions	Inhibit	30563166
Dysgerminoma	Stimulate	21793190
Endometrial Neoplasms	Associate	12377649, 12711006, 18986516
Endometriosis	Associate	36232817
Esophageal Neoplasms	Associate	11932896
Esophageal Squamous Cell Carcinoma	Associate	11932896
Fatty Liver	Associate	38034016
Fibrosis	Associate	15800690, 35265561
Gallbladder Neoplasms	Associate	20955617
Gastrointestinal Neoplasms	Associate	14716816, 18652704, 25027354
Genetic Diseases Inborn	Associate	35341481
Glaucoma Neovascular	Associate	16143032
Glucosephosphate Dehydrogenase Deficiency	Associate	37100811
Graft vs Host Disease	Associate	16497972, 23813863
Hand Foot Syndrome	Stimulate	15917420
Hand Foot Syndrome	Associate	18341672
Heart Diseases	Associate	37100811
Hematologic Neoplasms	Associate	16497972
Hepatitis B Chronic	Associate	35265561
Hepatitis Viral Human	Associate	15800690
Hereditary Sensory and Motor Neuropathy	Associate	26556829
Hypoxia	Associate	10391091, 16317434, 20355241
IgA Vasculitis	Associate	22534375
Iliotibial Band Syndrome	Associate	17497037
Immune System Diseases	Associate	36090972
Inflammation	Associate	12610101, 12639965
Insulin Resistance	Associate	35341481
Leukemia	Associate	39216403
Leukemia Lymphocytic Chronic B Cell	Associate	6427005
Leukemia Lymphoid	Associate	39216403
Leukoencephalopathies	Associate	17294068
Lipodystrophy Familial Partial	Associate	35341481
Liver Cirrhosis	Associate	15800690, 17497037
Lung Neoplasms	Associate	8398697, 9635852
Lupus Erythematosus Systemic	Associate	30915077
Lymphatic Metastasis	Associate	10507774, 10760693
Melanoma	Associate	11011118, 16143032
Mitochondrial Diseases	Associate	17294068, 23838601, 28765176, 30395865
Mitochondrial Encephalomyopathies	Inhibit	11733540
Mitochondrial Encephalomyopathies	Associate	12813027, 13679382, 14757860, 16679698, 17294068, 18787099, 19772189, 20593055, 21933806, 22215544, 24802030, 28764801, 30240477, 32384880, 33655764, 35341481, 35955927 View all (2 more)
Mitochondrial Myopathies	Associate	30395865
Multiple Myeloma	Associate	27559096, 35760800
Multiple Sclerosis	Inhibit	36864689
Multiple Sclerosis	Associate	37903821
Myxoma	Associate	12520153
Nakamura Osame syndrome	Associate	26556829
Neoplasm Metastasis	Associate	10098749, 16317434, 18630501, 25350954, 30674871, 8611421
Neoplasms	Associate	10081495, 10206303, 10468288, 10507774, 10645230, 10760693, 10780522, 10901374, 11011118, 11870536, 11932896, 11986782, 12520153, 14725767, 15150550 View all (43 more)
Neoplasms	Stimulate	10188906, 10665652, 38043946
Neoplasms	Inhibit	14562021, 34454516
Neoplasms Squamous Cell	Associate	20700125
Nervous System Diseases	Associate	18441329
Neurologic Manifestations	Associate	37148061
Neutropenia	Associate	30927276
Oropharyngeal Neoplasms	Associate	17378915
Osteoarthritis	Associate	12823854
Ovarian Neoplasms	Stimulate	39972314
Ovarian Neoplasms	Associate	9793193
Pancreatic Neoplasms	Associate	10188906
Periodontitis	Associate	22092770
Peripheral Nervous System Diseases	Associate	26556829
Personality Disorders	Stimulate	38043946
Polyneuropathies	Associate	17294068
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	27020842
Prodromal Symptoms	Stimulate	9635852
Prostatitis	Associate	11986782
Rectal Neoplasms	Associate	24455740, 26617778
Respiratory Distress Syndrome	Associate	35967328
Sarcoma	Associate	9263424
Sarcoma Kaposi	Associate	8707955
Sick Sinus Syndrome	Associate	9052396
Signs and Symptoms Digestive	Associate	21933806, 35341481, 37148061
Spondylitis Ankylosing	Inhibit	39185422
Squamous Cell Carcinoma of Head and Neck	Associate	19639195, 9216858
Stomach Neoplasms	Associate	10098749, 10507774, 15274366, 17094420, 17854149, 17923735, 18652704, 21586171, 24027750, 27283904, 8611421, 8613432, 8972720
Syndrome	Associate	35341481
Thrombocytosis	Associate	25027354
Turcot syndrome	Associate	24800948
Urinary Bladder Neoplasms	Associate	10665652, 11683966
Uterine Cervical Neoplasms	Associate	10098767, 10645230
Uterine Diseases	Associate	9263424
Vascular Diseases	Associate	37100811
VATER association	Associate	10760693
Virus Diseases	Stimulate	8707955
Visceral myopathy familial external ophthalmoplegia	Associate	12813027, 17612528, 22011815, 22215544, 23838601, 29348134, 30646848, 36192783, 37148061
Visceral myopathy familial external ophthalmoplegia	Inhibit	28765176
Vomiting	Associate	36192783

TYMP (thymidine phosphorylase)