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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1806
Gene name Gene Name - the full gene name approved by the HGNC.	Dihydropyrimidine dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DPYD
Synonyms (NCBI Gene) Gene synonyms aliases	DHP, DHPDHASE, DPD, DYPD
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p21.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidi

Show/Hide all(50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801158	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1801265	A>G	Pathogenic, benign, not-provided	Intron variant, missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1801266	G>A	Drug-response, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs1801268	C>A	Drug-response	Genic downstream transcript variant, coding sequence variant, missense variant
rs3918290	C>G,T	Pathogenic, drug-response, uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice donor variant, genic downstream transcript variant
rs55886062	A>C,T	Pathogenic, drug-response, likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs59086055	G>A	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs67376798	T>A	Uncertain-significance, drug-response, likely-pathogenic, other	Missense variant, genic downstream transcript variant, coding sequence variant
rs72547602	T>A,G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs72549303	G>-	Drug-response	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs72549309	ATGA>-	Drug-response, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs72549310	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, 5 prime UTR variant
rs75017182	G>C,T	Drug-response	Genic downstream transcript variant, intron variant
rs115232898	T>C	Drug-response, likely-benign, not-provided	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs141597515	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs146170505	C>A	Pathogenic-likely-pathogenic	Stop gained, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs189768576	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs367619008	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs377221676	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs749571474	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs755031341	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs764584080	A>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs768020954	C>T	Likely-pathogenic	Initiator codon variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs776692894	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs779948148	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs867460475	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1057516356	C>G	Likely-pathogenic	Splice acceptor variant
rs1057516357	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516388	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516405	A>T	Likely-pathogenic	Splice donor variant, intron variant
rs1057516615	G>-	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516671	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516696	C>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516711	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516713	T>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516761	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516763	C>A	Likely-pathogenic	Splice donor variant
rs1057516968	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs1057516997	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517018	T>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057517065	A>G,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517126	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517189	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1207177925	GGATTTCT>-	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1220608789	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant
rs1300669537	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553197926	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553201443	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553201476	CA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553247675	C>A	Likely-pathogenic	Splice donor variant

Show/Hide all(30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022744	hsa-miR-124-3p	Microarray	18668037
MIRT437994	hsa-miR-27a-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT437994	hsa-miR-27a-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT944925	hsa-miR-1290	CLIP-seq
MIRT944926	hsa-miR-302f	CLIP-seq
MIRT944927	hsa-miR-3179	CLIP-seq
MIRT944928	hsa-miR-3978	CLIP-seq
MIRT944929	hsa-miR-4261	CLIP-seq
MIRT944930	hsa-miR-4450	CLIP-seq
MIRT944931	hsa-miR-4738-3p	CLIP-seq
MIRT944932	hsa-miR-548g	CLIP-seq
MIRT944933	hsa-miR-1228	CLIP-seq
MIRT944934	hsa-miR-329	CLIP-seq
MIRT944935	hsa-miR-342-3p	CLIP-seq
MIRT944936	hsa-miR-362-3p	CLIP-seq
MIRT944937	hsa-miR-377	CLIP-seq
MIRT944938	hsa-miR-4753-3p	CLIP-seq
MIRT944939	hsa-miR-4768-5p	CLIP-seq
MIRT1979723	hsa-miR-4790-3p	CLIP-seq
MIRT2214903	hsa-miR-4633-3p	CLIP-seq
MIRT2214904	hsa-miR-4802-5p	CLIP-seq
MIRT2214905	hsa-miR-579	CLIP-seq
MIRT2214906	hsa-miR-610	CLIP-seq
MIRT944933	hsa-miR-1228	CLIP-seq
MIRT944934	hsa-miR-329	CLIP-seq
MIRT944936	hsa-miR-362-3p	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002058	Function	Uracil binding	IBA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IDA	1512248
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	9348115
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006145	Process	Purine nucleobase catabolic process	IMP	11988088
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IEA
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IEA
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IMP	11988088
GO:0006208	Process	Pyrimidine nucleobase catabolic process	ISS
GO:0006210	Process	Thymine catabolic process	IBA
GO:0006210	Process	Thymine catabolic process	IDA	10410956
GO:0006212	Process	Uracil catabolic process	IBA
GO:0006212	Process	Uracil catabolic process	IDA	1512248, 18075467
GO:0006214	Process	Thymidine catabolic process	IDA	1512248
GO:0006248	Process	CMP catabolic process	IEA
GO:0006249	Process	DCMP catabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IBA
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IDA	1512248, 10410956, 18075467
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IEA
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IMP	11988088
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	ISS
GO:0019483	Process	Beta-alanine biosynthetic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	1512248
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046050	Process	UMP catabolic process	IEA
GO:0046079	Process	DUMP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	ISS
GO:0050661	Function	NADP binding	IBA
GO:0050661	Function	NADP binding	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA

MIM	HGNC	e!Ensembl
612779	3012	ENSG00000188641

Protein

UniProt ID

Q12882

Protein name

Dihydropyrimidine dehydrogenase [NADP(+)] (DHPDHase) (DPD) (EC 1.3.1.2) (Dihydrothymine dehydrogenase) (Dihydrouracil dehydrogenase)

Protein function

Involved in pyrimidine base degradation (PubMed:1512248). Catalyzes the reduction of uracil and thymine (PubMed:1512248). Also involved the degradation of the chemotherapeutic drug 5-fluorouracil (PubMed:1512248).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14691	Fer4_20	55 → 168	Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster	Domain
PF07992	Pyr_redox_2	187 → 499	Pyridine nucleotide-disulphide oxidoreductase	Domain
PF01180	DHO_dh	532 → 838	Dihydroorotate dehydrogenase	Domain
PF14697	Fer4_21	946 → 1004		Domain

Tissue specificity

TISSUE SPECIFICITY: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.

Sequence

MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNPDKNCFNCEKLENNFD
DIKHTTLGERGALREAMRCLKCADAPCQKSCPTNLDIKSFITSIANKNYYGAAKMIFSDN
PLGLTCGMVCPTSDLCVGGCNLYATEEGPINIGGLQQFATEVFKAMSIPQIRNPSLPPPE
KMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEYVGGLSTSEIPQFRLPYDV
VNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFIGIGLPEPNKDAIFQGLTQD
QGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATSALRCGARRVF
IVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWN
EDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNRWGLPEVDPETMQTSEAWVFAGG
DVVGLANTTVESVNDGKQASWYIHKYVQSQYGASVSAKPELPLFYTPIDLVDISVEMAGL
KFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMY
GPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDS
GADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSI
ARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTS
IARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYL
KSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQ
NVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCY
MTCNDSGYQAIQFDPETHLPTITDTCTGCTLCLSVCPIVDCIKMVSRTTPYEPKRGVPLS
VNPVC

Sequence length

1025

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism beta-Alanine metabolism Pantothenate and CoA biosynthesis Drug metabolism - other enzymes Metabolic pathways		Pyrimidine catabolism

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dihydropyrimidine Dehydrogenase Deficiency	dihydropyrimidine dehydrogenase deficiency	rs1057516405, rs1057517327, rs1553212596, rs764584080, rs1057516711, rs768020954, rs1057517271, rs746991079, rs1057516968, rs1057516696, rs3918290, rs1057516510, rs1553251903, rs1057517018, rs1057517065 View all (42 more)	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anemia	Severe aplastic anemia	N/A	N/A	GWAS
Borderline personality disorder	Borderline personality disorder	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Gastroesophageal Reflux Disease	Gastroesophageal reflux disease	N/A	N/A	GWAS
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 1	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (96)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	15868929, 20543560, 28835573, 36289279
Adenocarcinoma	Stimulate	18360075
Adenocarcinoma Mucinous	Associate	20570913
Adenocarcinoma of Lung	Associate	25573239, 36289279
Adenocarcinoma Scirrhous	Associate	16080558
Adenoma Pleomorphic	Associate	26031756
Adrenal Insufficiency	Associate	23070091
Angina Stable	Associate	23079156
Aortic Dissection	Associate	37684281
Autism Spectrum Disorder	Associate	18252227, 23275889
Bipolar Disorder	Associate	28632202
Bone Marrow Diseases	Associate	28278081
Borderline Personality Disorder	Associate	28632202
Breast Neoplasms	Associate	11870510, 18319546, 19104657, 19596923, 28481884, 30746637, 39596349
Calcinosis Cutis	Associate	19105824
Cancer Pain	Associate	37014829
Carcinoma Hepatocellular	Associate	29358721
Carcinoma Neuroendocrine	Associate	31852810
Carcinoma Non Small Cell Lung	Associate	15868929, 16880781, 17695427, 27268079, 37372990
Carcinoma Squamous Cell	Associate	36289279
Carcinoma Squamous Cell	Stimulate	36289279
Cardiovascular Diseases	Associate	34780066
Chemical and Drug Induced Liver Injury	Associate	26846104
Chemotherapy Related Cognitive Impairment	Associate	21999595
Cholangiocarcinoma	Associate	15884115, 22912546
Colorectal Neoplasms	Associate	11501504, 12841874, 12870370, 14562021, 15015608, 16251201, 16302736, 16568373, 17094418, 18225548, 18245778, 18360075, 18383874, 18443386, 18630501 View all (33 more)
Death	Associate	17335544, 19154585, 21498394, 22799365, 25253112, 31124962, 8735686
Dehydration	Associate	23079156, 25381393
Diabetes Mellitus Type 1	Associate	24601691
Diarrhea	Associate	21410976, 21498394, 23079156, 23736036, 24817302, 25381393, 28278081, 34780066
Dihydropyrimidine Dehydrogenase Deficiency	Associate	12668826, 18937829, 19296131, 20803296, 24648345, 26804652, 28024938, 28481884, 30898145, 32595208, 32973300, 33361878, 33704179, 34773566, 36430399 View all (6 more)
Dihydropyrimidine Dehydrogenase Deficiency	Inhibit	20803296, 28024938, 35397172
Disease Resistance	Associate	15884115
Drug Related Side Effects and Adverse Reactions	Associate	11267945, 11953843, 15274386, 17335544, 18225548, 18443386, 19104657, 20507294, 20653680, 20803296, 20809970, 20819423, 20926004, 21498394, 23070091 View all (66 more)
Esophageal Neoplasms	Associate	27741011
Fatigue	Associate	23079156
Fatty Liver	Associate	21999595, 35982095
Gallbladder Neoplasms	Associate	16619549
Gastrointestinal Diseases	Associate	30723313, 30746637, 33035787
Gastrointestinal Neoplasms	Associate	14716816, 16302736, 18652704, 20809970, 23139054, 37101114
Genetic Diseases Inborn	Associate	15274386
Hand Foot Syndrome	Associate	24647007, 24817302, 35473510
Head and Neck Neoplasms	Associate	10206306
Hematologic Diseases	Associate	30723313, 33035787
Hepatolenticular Degeneration	Associate	39809184
Hyperbilirubinemia	Associate	31124962
Hypoxia	Associate	39317456
Infections	Associate	26846104
Leukopenia	Associate	23079156, 25381393, 39596349
Liver Diseases	Associate	15865071
Liver Failure	Associate	36918744
Lung Neoplasms	Associate	28835573
Lymphatic Metastasis	Stimulate	29358721
Lymphatic Metastasis	Associate	34612540
Melanoma Cutaneous Malignant	Associate	26609109
Metabolism Inborn Errors	Associate	18937829, 36357675
Neoplasm Metastasis	Associate	18630501, 19052026, 34612540, 36918744
Neoplasm Metastasis	Inhibit	29358721
Neoplasm Metastasis	Stimulate	29358721
Neoplasms	Associate	11092985, 11267945, 11501504, 11870510, 12870370, 14562021, 15015608, 15330204, 15492566, 15865071, 15868929, 16080558, 16251201, 16880781, 17695427 View all (37 more)
Neoplasms	Inhibit	27733154
Neoplasms	Stimulate	28835573
Neurologic Manifestations	Associate	28481884
Neurotoxicity Syndromes	Associate	33035787
Neutropenia	Associate	20037211, 21410976, 25381393, 29065426, 30723313, 30858516, 34780066, 39596349
Non Muscle Invasive Bladder Neoplasms	Associate	27626805, 35595780
Oligodendroglioma	Associate	20164239
Oropharyngeal Neoplasms	Associate	35200545
Ovarian Neoplasms	Associate	20570913, 25066213
Paget Disease Extramammary	Inhibit	28603180
Pancreatic Neoplasms	Associate	15492566, 21487324, 29515256
Pancytopenia	Associate	33305610
Porokeratosis punctata palmaris et plantaris	Associate	30746637
Postpartum Hemorrhage	Associate	39885444
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26846104, 28618970
Protein S Deficiency	Inhibit	23169295
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	37758638
Rectal Neoplasms	Associate	24455740
Respiratory Tract Diseases	Associate	33035787
Rufous oculocutaneous albinism	Associate	18245778, 19104657
Schizophrenia	Associate	24556472, 28632202
Sepsis	Associate	24700034
Sexual Dysfunction Physiological	Associate	23079156
Squamous Cell Carcinoma of Head and Neck	Associate	30803213, 31871216
Stomach Diseases	Associate	29906295
Stomach Neoplasms	Associate	15330198, 15330204, 15354215, 16302736, 18231104, 20857529, 23794300, 25112781, 25793299, 33361878, 34525956
Stomach Neoplasms	Stimulate	18652704
Stomatitis	Associate	22448752, 23079156, 28278081
Syndrome	Associate	15858133
Tertiary Lymphoid Structures	Associate	15015608
Thalassemia Beta+ Silent Allele	Associate	38060335
Thiopurine S methyltranferase deficiency	Associate	32973300
Thrombocytopenia	Associate	25381393
Turcot syndrome	Associate	24800948
Urinary Bladder Neoplasms	Associate	25218240, 35595780
Uterine Cervical Neoplasms	Associate	12967482

DPYD (dihydropyrimidine dehydrogenase)