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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TYMP Gene

protein-coding GIFtS: 62
GCID: GC22M050964

thymidine phosphorylase

(Previous name: endothelial cell growth factor 1 (platelet-derived) )
(Previous symbols: MNGIE, ECGF1)

Explore 141 diseases affiliated with
TYMP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Thymidine Phosphorylase¹ ²		ECGF²
ECGF1¹ ² ³ ⁵		Gliostatin³
MNGIE¹ ² ⁵		HPD-ECGF¹
TP² ³		TdRPase³
EC 2.4.2.4³ ⁸		Gliostatin³
MEDPS1² ⁵		PD-ECGF³
MTDPS1² ⁵		TdRPase³
PDECGF² ⁵		Platelet-Derived Endothelial Cell Growth Factor³
Endothelial Cell Growth Factor 1 (Platelet-Derived)¹		EC 2.4.2⁸

External Ids:	HGNC: 3148¹	Entrez Gene: 1890²	Ensembl: ENSG00000025708⁷	OMIM: 131222⁵	UniProtKB: P19971³

Export aliases for TYMP gene to outside databases

Previous GC identifers: GC22M049312 GC22M033855

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TYMP:

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)

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971

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

Function: Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and

energy sources or in the rescue of pyrimidine bases for nucleotide synthesis

Gene Wiki entry for TYMP (ECGF1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011526.7

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TYMP gene promoter:
Sp1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TYMP promoter sequence

Search SABiosciences Chromatin IP Primers for TYMP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TYMP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13

TYMP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TYMP gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M050964: view genomic region (about GC identifiers)

Start:	50,964,181 bp from pter	End:	50,968,514 bp from pter
Size:	4,334 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971 (See protein sequence)

Recommended Name: Thymidine phosphorylase precursor

Size: 482 amino acids; 49955 Da

Subunit: Homodimer

4 PDB 3D structures from and Proteopedia for TYMP:

1UOU (3D)

2J0F (3D)

2WK5 (3D)

2WK6 (3D)

Secondary accessions: A8MW15 H9KVA0 Q13390 Q8WVB7

Alternative splicing: 2 isoforms: P19971-1 P19971-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TYMP: NX_P19971

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19971

4/6 DME Specific Peptides for TYMP (P19971) (see all 6)

RDVTATV

DKHSTGG

LITASIL

SGRGLGHTGGT

TYMP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001107227.1 NP_001107228.1 NP_001244917.1 NP_001244918.1 NP_001944.1

ENSEMBL proteins:

ENSP00000379037 ENSP00000379038 ENSP00000252029 ENSP00000379036 ENSP00000395875

Reactome Protein details: P19971
Human Recombinant Protein Products:

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	Sino Biological Recombinant Protein for TYMP
	ProSpec Recombinant Protein for TYMP
	Uscn Proteins for TYMP

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

TYMP for ontologies About GeneDecksing

TYMP Antibody Products:

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Assay Products for TYMP:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TYMP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TYMP for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR017459 Glycosyl_Trfase_fam3_N_dom

IPR017872 Pyrmidine_PPase_CS

IPR000053 Pyrmidine_PPase

IPR013102 PYNP_C

IPR018090 Pyrmidine_PPas_bac/euk

Graphical View of Domain Structure for InterPro Entry P19971

ProtoNet protein and cluster: P19971

1 Blocks protein family: IPB000053 Thymidine/pyrimidine-nucleoside phosphorylase

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971

Similarity: Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971

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

Function: Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and

energy sources or in the rescue of pyrimidine bases for nucleotide synthesis

Catalytic activity: Thymidine + phosphate = thymine + 2-deoxy-alpha-D-ribose 1-phosphate

Enzyme Numbers (IUBMB): EC 2.4.2.4¹ ² EC 2.4.2²

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TYMP
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TYMP
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TYMP (see all 4) OriGene shRNA RFP: TYMP OriGene siRNA: TYMP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TYMP

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TYMP

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TYMP
		Search LifeMap BioReagents cell lines for TYMP

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TYMP

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004645	phosphorylase activity	IEA	--
GO:0005161	platelet-derived growth factor receptor binding	TAS	2005900
GO:0008083	growth factor activity	IEA	--
GO:0009032	thymidine phosphorylase activity	IEA	--
GO:0016154	pyrimidine-nucleoside phosphorylase activity	IEA	--

TYMP for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TYMP:

Decreased number of cells in m

Animal Models:
Mouse knock-outs for TYMP: Tymp^tm1Mihi Tymp^tm1Akiy
5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tymp):

cellular

homeostasis/metabolism

immune system

nervous system

skeleton

TYMP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Pyrimidine metabolism

	Pyrimidine metabolism	1.00			Pyrimidine salvage reactions	0.38
	Pyrimidine catabolism	0.50			salvage pathways of pyrimidine deoxyribonucleotides	0.15

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Fluoropyrimidine Activity

Fluoropyrimidine Activity

1.00

Fluoropyrimidine Pathway, Pharmacokinetics

0.73

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

1.00

Apoptosis and Autophagy

Apoptosis and Autophagy

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Cell Signaling Technology (CST) Pathways for TYMP

	Chromatin Regulation / Acetylation
	Apoptosis and Autophagy
	Angiogenesis

2 BioSystems Pathways for TYMP

	Fluoropyrimidine Activity
	salvage pathways of pyrimidine deoxyribonucleotides

5 Reactome Pathways for TYMP

	Metabolism of nucleotides
	Metabolism
	Pyrimidine catabolism
	Pyrimidine salvage reactions
	Pyrimidine metabolism

1 PharmGKB Pathway for TYMP

Fluoropyrimidine Pathway, Pharmacokinetics

4 Kegg Pathways (Kegg details for TYMP):

	Pyrimidine metabolism
	Drug metabolism - other enzymes
	Metabolic pathways
	Bladder cancer

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971

Pathway: Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2

TYMP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TYMP

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/19 Interacting proteins for TYMP (ENSP00000252029⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDA	ENSP00000364212⁴	STRING: ENSP00000364212
CYP2A13	ENSP00000332679⁴	STRING: ENSP00000332679
CYP2A6	ENSP00000301141⁴	STRING: ENSP00000301141
DPYD	ENSP00000359211⁴	STRING: ENSP00000359211
NT5C	ENSP00000245552⁴	STRING: ENSP00000245552

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000002	mitochondrial genome maintenance	TAS	9924029
GO:0001525	angiogenesis	IEA	--
GO:0006206	pyrimidine nucleobase metabolic process	TAS	--
GO:0006213	pyrimidine nucleoside metabolic process	--	--
GO:0006220	pyrimidine nucleotide metabolic process	TAS	9924029

TYMP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TYMP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TYMP

10 HMDB Compounds for TYMP About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenine	1,6-Dihydro-6-iminopurine (see all 19)	73-24-5	--
Deoxyadenosine monophosphate	2'-Deoxy-5'-adenylate (see all 24)	653-63-4	--
Deoxyguanosine	2'-Deoxyguanosine (see all 11)	961-07-9	--
Deoxyinosine	2'-Deoxyinosine (see all 10)	890-38-0	--
Deoxyribose 1-phosphate	2-deoxy-D-ribose-1-phosphate (see all 14)	17210-42-3	--
Deoxyuridine	1-(2-Deoxy-D-erythro-pentofuranosyl)uracil (see all 12)	951-78-0	--
Guanine	GUN (see all 26)	73-40-5	--
Thymidine	1-(2-Deoxy-b-D-erythro-pentofuranosyl)-5-methyl-2,4(1H,3H)-pyrimidinedione (see all 17)	50-89-5	--
Thymine	2,4-Dihydroxy-5-methylpyrimidine (see all 8)	65-71-4	--
Uracil	2,4-Dihydroxypyrimidine (see all 8)	66-22-8	--

6 DrugBank Compounds for TYMP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Capecitabine	--	154361-50-9	enzyme	substrate	12481438 16926630 15763604 11291832 12866042 15132128 10630095 11587492 10755317 15134221 11081570
Trifluridine	--	70-00-8	enzyme	substrate	18798063 15571283 17179993 14719072 6010427 16902987
Floxuridine	5 Fluorodeoxyuridine (see all 10)	50-91-9	enzyme	substrate	6237613 11410777 12451471
Cidofovir	CDV (see all 2)	113852-37-2	enzyme	inhibitor	19844936
Fluorouracil	--	51-21-8	enzyme	substrate	21332317
5-Chloro-6-[(2-Iminopyrrolidin-1-Yl)Methyl]Pyrimidine-2,4(1h,3h)-Dione	--	--	target	--	--
	--	--	enzyme	--	--

10/99 Novoseek chemical compound relationships for TYMP gene (see all 99) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thymidine	95.9	2344	12639965 (9), 12397781 (8), 17993734 (7), 16721548 (7) (see all 99)
5'-deoxy-5-fluorouridine	94.8	218	15201953 (5), 12820419 (5), 12020396 (5), 15604581 (4) (see all 75)
deoxyribose-1-phosphate	93.5	39	8137250 (2), 12543812 (2), 1850393 (1), 10796062 (1) (see all 23)
capecitabine	92.6	293	15917420 (6), 18765464 (6), 19117293 (6), 15132128 (5) (see all 99)
thymidylate	90	241	15538739 (2), 15777505 (2), 17047489 (2), 19051292 (2) (see all 99)
5fluorouracil	87.6	557	10412941 (6), 20372793 (6), 7642571 (5), 9796967 (5) (see all 99)
pyrimidine nucleoside	83.4	21	7538895 (1), 10685502 (1), 11706522 (1), 2328255 (1) (see all 17)
deoxyuridine	81	49	12646159 (2), 12813027 (2), 16971699 (2), 16178026 (2) (see all 22)
trifluorothymidine	80.9	45	15711180 (3), 15140625 (3), 17441963 (2), 18555978 (2) (see all 13)
orotic acid	77.7	45	17443278 (2), 18652704 (2), 17637543 (2), 17214322 (1) (see all 23)

Search CenterWatch for drugs/clinical trials and news about TYMP / TYPH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TYMP gene (5 alternative transcripts):

NM_001113755.2 NM_001113756.2 NM_001257988.1 NM_001257989.1 NM_001953.4

Unigene Cluster for TYMP:

Thymidine phosphorylase

Hs.180903 [show with all ESTs]

Unigene Representative Sequence: AK057214

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000395680 ENST00000395681 ENST00000252029(uc003bmc.4 uc003bme.4 uc010hbd.3 uc003bmd.4 uc011arz.1)

ENST00000487577(uc003bmb.4) ENST00000395678 ENST00000476284 ENST00000425169

ENST00000487162

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		GenScript: all cDNA clones in your preferred vector (see all 3): TYMP (NM_001113755)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TYMP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TYMP

Additional cDNA sequence:

AK057214.1 AK225269.1 AK298691.1 AK301194.1 AK314716.1 AL021683.1 BC018160.1 BC052211.2

BC102024.1 BC102025.1 M63193.1

24/34 DOTS entries (see all 34):

DT.453568 DT.100879963 DT.100879971 DT.95168904 DT.100839037 DT.40195389 DT.100879983 DT.92020249

DT.92419084 DT.95252736 DT.100879991 DT.120638056 DT.92455484 DT.100768232 DT.100879980 DT.120638104

DT.100766191 DT.100807874 DT.100879974 DT.100879975 DT.95252742 DT.100645925 DT.100762272 DT.100840422

24/481 AceView cDNA sequences (see all 481):

BI909247 CR619786 BQ225451 CB851017 AI268481 AI268720 BM126814 BM837138

AI632959 BX280388 AI151089 BM727471 AI990895 AI917491 AI348098 CB216979

NM_001953 BF514999 CR601687 BX348024 CR616233 CD366369 CR610057 BU675175

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for TYMP (see all 21) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	·	2g	^	3a	·	3b	·	3c	·	3d	·	3e	·	3f	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	·
SP1:							-		-																				-		-		-								-						-		-		-
SP2:							-		-		-		-		-														-		-		-								-						-		-		-
SP3:																													-		-		-								-						-		-		-
SP4:							-		-		-		-																-		-		-								-						-		-		-
SP5:							-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-						-		-		-

ExUns:	6c	^	7a	·	7b	^	8	^	9a	·	9b	·	9c	^	10	^	11
SP1:													-
SP2:													-
SP3:													-
SP4:
SP5:

ECgene alternative splicing isoforms for TYMP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TYMP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCGGCTTTCC

About this image
See TYMP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TYMP

SOURCE GeneReport for Unigene cluster: Hs.180903

SABiosciences Expression via Pathway-Focused PCR Arrays including TYMP (see all 6):

Growth Factors in human mouse rat

Endothelial Cell Biology in human mouse rat

Angiogenic Growth Factors in human mouse rat

Angiogenesis in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TYMP Browse OriGene validated miRNA SYBR primer pairs
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for TYMP gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tymp^{1 , 5}	thymidine phosphorylase^{1, 5}	78.25(n)¹ 81.76(a)¹		15 (44.86 cM)⁵ 72962¹ NM_138302.1¹ NP_612175.1¹ 89371931⁵
lizard (Anolis carolinensis)	Reptilia	TYMP⁶	--	57(a)	1 ↔ 1	GL343682.1(151023-169190)
rainbow trout (Oncorhynchus mykiss)	Actinopterygii	Omy.10042²	Oncorhynchus mykiss transcribed sequence with weak more	76.44(n)		CA348293.1
E. coli (Escherichia coli)	Gamma proteobacteria	deoA⁶	thymidine phosphorylase	39(a)	1 ↔ 1	Chromosome(4616252-4617574)

ENSEMBL Gene Tree for TYMP (if available)
TreeFam Gene Tree for TYMP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28931613^1,2	C	pathogenic	34341738(-)	`GAAGCG/AAGACG`	10	/Q /R	mis¹ ese³		1		NA	2
rs121913037^1,2	C,	pathogenic	34342722(-)	`TCAGCA/GGACGT`	10	R G	mis¹		0	--	--	--	--
rs121913039^1,2	C,F,	pathogenic	34343705(-)	`CCACCG/ATGGAC`	10	/M /V	mis¹		1		NA	4552
rs8136381^1,2	C,A,	--	33854715(+)	`CCGCGC/TGAGCG`	5	--	ds500¹		2		NA WA	120
rs74479613^1,2	F,	--	33854923(+)	`CCTCGC/TGGCGG`	5	--	ds500¹		2		WA EA	238
rs1061205^1,2	C	--	33855265(-)	`CCATTC/TGCCGC`	10	F	syn¹ ese³		2		MN NA	186
rs1138404^1,2	F,	--	33855464(-)	`GTGGGT/ACAGAG`	10	/G	syn¹		2		WA NA	238
rs9628204^1,2	C	--	33856164(+)	`AAGCCC/TTAGGC`	10	R G	mis¹		0	--	--	--	--
rs73891271^1,2	C,	--	33856434(+)	`CTTGAC/TCTCTA`	5	--	int¹		2		WA	120
rs77427356^1,2		--	33857791(+)	`TGATCC/ATAATC`	5	--	int¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for TYMP (50964181 - 50968514 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TYMP
2 CNVs: 4139 5192
Human Gene Mutation Database (HGMD): TYMP

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TYMP for disorders           About GeneDecksing

OMIM gene information: 131222
OMIM disorders: 603041
UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971

Defects in TYMP are the cause of mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041]; also known

as myoneurogastrointestinal encephalomyopathy. A multisystem disease associated with mitochondrial dysfunction. It is

clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external

ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, thin body

habitus, peripheral neuropathy, and myopathy

20/141 diseases for TYMP (see all 141): About MalaCards

mitochondrial dna depletion syndrome 1 (mngie type) encephalomyopathy mitochondrial dna depletion syndrome mitochondrial neurogastrointestinal encephalomyopathy syndrome

mitochondrial neurogastrointestinal encephalopathy disease intestinal pseudo-obstruction chronic progressive external ophthalmoplegia squamous cell carcinoma

pyloric stenosis hypertrophic pyloric stenosis fibrous histiocytoma non-small cell lung carcinoma

malignant fibrous histiocytoma pulmonary vein stenosis testicular germ cell tumor cervical squamous cell carcinoma

clear cell renal cell carcinoma carcinoma soft tissue sarcoma cervical intraepithelial neoplasia

5 diseases from the University of Copenhagen DISEASES database for TYMP:

Chronic progressive external ophthalmoplegia Ophthalmoplegia Carcinoma Ileus

Peripheral neuropathy

10/96 Novoseek disease relationships for TYMP gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mngie	95.3	106	14633909 (6), 16178026 (5), 11733540 (4), 17544574 (3) (see all 42)
tumors	71.4	939	15289834 (8), 10741908 (6), 11268481 (6), 15706408 (6) (see all 99)
colorectal cancer	69.4	141	15069545 (5), 12375032 (4), 17179731 (4), 10831266 (3) (see all 60)
progressive external ophthalmoplegia	67.9	1	14557557 (1)
gastric cancer	63.3	80	18922971 (4), 9516932 (3), 17923735 (3), 17143479 (3) (see all 38)
metastasis	62.9	164	15254700 (5), 12027197 (3), 15546501 (3), 18613378 (3) (see all 87)
cancer	60.7	338	17923735 (6), 17143479 (6), 15323351 (6), 12722680 (6) (see all 99)
solid tumor	59.5	48	12543812 (2), 10741908 (1), 2167917 (1), 10630095 (1) (see all 30)
neovascularization	58.2	21	9563652 (2), 7507805 (1), 9529017 (1), 10632327 (1) (see all 17)
breast cancer metastatic	57.2	7	18441329 (1), 11432617 (1), 12454317 (1), 15114696 (1) (see all 5)

GeneTests: TYMP

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Human Genome Epidemiology (HuGE) Navigator: TYMP (1 document)

Export disorders for TYMP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TYMP gene, integrated from 9 sources (see all 994):
(articles sorted by number of sources associating them with TYMP)

Utopia: connect your pdf to the dynamic
world of online information

Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity. (PubMed id 1590793)^{1, 2, 3, 9} Usuki K.... Heldin C.-H. (1992)
Altered thymidine metabolism due to defects of thymidine phosphorylase. (PubMed id 11733540)^{1, 3, 9} Spinazzola A....Hirano M. (2002)
Thymidine kinase and thymidine phosphorylase level as the main predictive parameter for sensitivity to TAS-102 in a mouse model. (PubMed id 14719072)^{1, 7, 9} Emura T....Kitazato K. (2004)
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. (PubMed id 9924029)^{1, 2, 9} Nishino I.... Hirano M. (1999)
Structures of native human thymidine phosphorylase an d in complex with 5-iodouracil. (PubMed id 19555658)^{1, 2, 9} Mitsiki E....Acharya K.R. (2009)
Structural basis for non-competitive product inhibition in human thymidine phosphorylase: implications for drug design. (PubMed id 16803458)^{1, 2, 9} El Omari K....Stammers D.K. (2006)
Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor. (PubMed id 1400349)^{1, 2, 9} Asai K.... Kato T. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Phenotypic variability in a Spanish family with MNGIE. (PubMed id 12177387)^{1, 2} Gamez J.... Hirano M. (2002)
Angiogenic factor. (PubMed id 1570012)^{1, 2} Furukawa T.... Yamada Y. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1890	HGNC: 3148	AceView: ECGF1andSCO2andLOC440836	Ensembl:ENSG00000025708	euGenes: HUgn1890
ECgene: TYMP	Kegg: 1890	H-InvDB: TYMP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TYMP	Pharmacogenomics, SNPs, Pathways
R&D Systems' cytokine mini-reviews: PD-ECGF	http://www.rndsystems.com/molecule_detail.aspx?m=1965
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYMP

Intellectual Property for TYMP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TYMP gene:
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GeneCards and IP:
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colon cancer metastatic
Renal Cancer
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ADENOCARCINOMA LUNG
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allergy
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