Gene Gene information from NCBI Gene database.
Entrez ID 1806
Gene name Dihydropyrimidine dehydrogenase
Gene symbol DPYD
Synonyms (NCBI Gene)
DHPDHPDHASEDPDDYPD
Chromosome 1
Chromosome location 1p21.3
Summary 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612779 3012 ENSG00000188641
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PLGLTCGMVCPTSDLCVGGCNLYATEEGPINIGGLQQFATEVFKAMSI
PQIRNPSLPPPE
KMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEYVGGLSTSEIPQFRLPYDV
VNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFIGIGLPEPNKDAIFQGLTQD
QGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATSALRCGARRVF
IVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWN
EDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNRWGLPEVDPETMQTSEAWVFAGG
DVVGLANTTVESVNDGKQA
SWYIHKYVQSQYGASVSAKPELPLFYTPIDLVDISVEMAGL
KFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMY
GPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDS
GADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSI
ARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTS
IARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALL
YL
KSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQ
NVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCY
MTCNDSGYQAIQFDPETHLPTITDTCTGCTLCLSVCPIVDCIKM
VSRTTPYEPKRGVPLS
VNPVC
Sequence length 1025
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
beta-Alanine metabolism
Pantothenate and CoA biosynthesis
Drug metabolism - other enzymes
Metabolic pathways
  Pyrimidine catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
400
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
5-fluorouracil response Likely pathogenic rs755416212 RCV003332223
Dihydropyrimidine dehydrogenase deficiency Likely pathogenic; Pathogenic rs568132506, rs769925158, rs1669337684, rs2101026231, rs2102259303, rs778614771, rs2524094344, rs773499329, rs72549310, rs772950053, rs2100972370, rs372307932, rs1057516713, rs2524373926, rs72549304
View all (117 more)
RCV001329029
RCV002308674
RCV001335115
RCV001553731
RCV003470927
RCV002302445
RCV002471719
RCV000169225
RCV000169198
RCV003236367
RCV003315140
RCV003331802
RCV003466077
RCV004572972
RCV000393255
RCV003466228
RCV003466229
RCV003466230
RCV003475588
RCV003466231
RCV003466232
RCV003466233
RCV003466234
RCV003466235
RCV003459988
RCV003466236
RCV003459989
RCV003466237
RCV003466238
RCV003466239
RCV003459990
RCV003467837
RCV003467838
RCV003459991
RCV003459992
RCV003467839
RCV003467840
RCV003475590
RCV003459993
RCV003467842
RCV003467843
RCV003467844
RCV003467845
RCV003467846
RCV003467847
RCV003467848
RCV003467849
RCV003475591
RCV003459995
RCV003467850
RCV003467851
RCV003467852
RCV003459997
RCV003467853
RCV003467854
RCV003467855
RCV003467856
RCV003467857
RCV003467858
RCV003459998
RCV003459999
RCV003467860
RCV003467861
RCV004575841
RCV004575842
RCV004575843
RCV004575844
RCV004575846
RCV004575847
RCV004575848
RCV004575849
RCV004575850
RCV004575851
RCV004575852
RCV004575853
RCV004575854
RCV004575855
RCV004575856
RCV000412342
RCV000411760
RCV000409198
RCV000410613
RCV000411332
RCV000412100
RCV000409891
RCV000412243
RCV000409049
RCV000412376
RCV000411299
RCV000411454
RCV000410448
RCV000409426
RCV000410030
RCV000411893
RCV000409394
RCV000412205
RCV000412072
RCV000409377
RCV000409743
RCV000411699
RCV000412433
RCV000411796
RCV000410794
RCV000411600
RCV000411932
RCV000409515
RCV000409929
RCV000409534
RCV000410667
RCV000410066
RCV000410851
RCV000409647
RCV000410763
RCV000409115
RCV000410919
RCV000409638
RCV003123363
RCV003470615
RCV003465287
RCV000589260
RCV000591104
RCV000666149
RCV000674165
RCV000667742
RCV000669120
RCV000665415
RCV000666839
RCV000670707
RCV000675011
RCV000671470
RCV000669906
RCV000779011
RCV000780216
RCV001004162
DPYD-related disorder Likely pathogenic; Pathogenic rs1057516713, rs2524373926, rs1057516968 RCV003391615
RCV003427915
RCV003409565
Fluorouracil response Pathogenic rs72547602 RCV000030869
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia drug response rs3918290 RCV005887125
Adrenocortical carcinoma, hereditary drug response rs2297595 RCV005887739
capecitabine response - Toxicity drug response rs1801160, rs17376848, rs1801159, rs1801158, rs56038477, rs2297595, rs3918290, rs1801265, rs75017182, rs67376798, rs55886062 RCV001787903
RCV001787905
RCV001787907
RCV001787909
RCV001787911
RCV001787915
RCV001787360
RCV001787362
RCV001788348
RCV001787864
RCV001787867
Cervical cancer drug response rs3918290 RCV005887129
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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