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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4597
Gene name	Mevalonate diphosphate decarboxylase
Gene symbol	MVD
Synonyms (NCBI Gene)	FP17780MDDaseMPDPOROK7
Chromosome	16
Chromosome location	16q24.2
Summary	The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing A

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs755948940	T>C	Pathogenic	Missense variant, coding sequence variant
rs761991070	A>G	Pathogenic	Missense variant, coding sequence variant

214

Show/Hide all (214)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022326	hsa-miR-124-3p	Microarray	18668037
MIRT029055	hsa-miR-26b-5p	Microarray	19088304
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT1166606	hsa-miR-129-3p	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT1166608	hsa-miR-2467-5p	CLIP-seq
MIRT1166609	hsa-miR-3130-3p	CLIP-seq
MIRT1166610	hsa-miR-3157-5p	CLIP-seq
MIRT1166611	hsa-miR-3173-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT1166612	hsa-miR-3194-3p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT1166614	hsa-miR-4277	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT1166617	hsa-miR-4690-3p	CLIP-seq
MIRT1166618	hsa-miR-4727-5p	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT1166620	hsa-miR-4769-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT1166621	hsa-miR-760	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT2048168	hsa-miR-1538	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT2048169	hsa-miR-1913	CLIP-seq
MIRT2048170	hsa-miR-22	CLIP-seq
MIRT2048171	hsa-miR-2355-5p	CLIP-seq
MIRT2048172	hsa-miR-296-5p	CLIP-seq
MIRT2048173	hsa-miR-3120-3p	CLIP-seq
MIRT2048174	hsa-miR-3127-3p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT2048175	hsa-miR-3189-5p	CLIP-seq
MIRT2048176	hsa-miR-324-3p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT2048177	hsa-miR-3938	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT2048178	hsa-miR-4292	CLIP-seq
MIRT2048179	hsa-miR-4308	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT2048181	hsa-miR-4532	CLIP-seq
MIRT2048182	hsa-miR-4641	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT2048183	hsa-miR-4655-5p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT2048184	hsa-miR-4701-5p	CLIP-seq
MIRT2048185	hsa-miR-4745-3p	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT2048186	hsa-miR-4758-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq
MIRT2048188	hsa-miR-588	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT2048189	hsa-miR-670	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT2277084	hsa-miR-1182	CLIP-seq
MIRT2277085	hsa-miR-1207-5p	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT2277086	hsa-miR-214	CLIP-seq
MIRT2277087	hsa-miR-298	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT2277088	hsa-miR-3619-5p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT2277089	hsa-miR-4291	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT2277090	hsa-miR-4691-3p	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT2277091	hsa-miR-4763-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq
MIRT2277092	hsa-miR-485-5p	CLIP-seq
MIRT2277093	hsa-miR-486-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT2277094	hsa-miR-761	CLIP-seq
MIRT2277095	hsa-miR-922	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT2454628	hsa-miR-1289	CLIP-seq
MIRT2454629	hsa-miR-1915	CLIP-seq
MIRT2454630	hsa-miR-4433	CLIP-seq
MIRT2454631	hsa-miR-4726-3p	CLIP-seq
MIRT2454632	hsa-miR-665	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT2454628	hsa-miR-1289	CLIP-seq
MIRT2048168	hsa-miR-1538	CLIP-seq
MIRT2048169	hsa-miR-1913	CLIP-seq
MIRT2454629	hsa-miR-1915	CLIP-seq
MIRT2048170	hsa-miR-22	CLIP-seq
MIRT2048172	hsa-miR-296-5p	CLIP-seq
MIRT2048173	hsa-miR-3120-3p	CLIP-seq
MIRT2048175	hsa-miR-3189-5p	CLIP-seq
MIRT2575802	hsa-miR-3194-5p	CLIP-seq
MIRT2048176	hsa-miR-324-3p	CLIP-seq
MIRT2454630	hsa-miR-4433	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT2048181	hsa-miR-4532	CLIP-seq
MIRT2048182	hsa-miR-4641	CLIP-seq
MIRT1166617	hsa-miR-4690-3p	CLIP-seq
MIRT2454631	hsa-miR-4726-3p	CLIP-seq
MIRT2048185	hsa-miR-4745-3p	CLIP-seq
MIRT2048186	hsa-miR-4758-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq
MIRT2575803	hsa-miR-572	CLIP-seq
MIRT2454632	hsa-miR-665	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT2048169	hsa-miR-1913	CLIP-seq
MIRT2048173	hsa-miR-3120-3p	CLIP-seq
MIRT2048175	hsa-miR-3189-5p	CLIP-seq
MIRT2048176	hsa-miR-324-3p	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT2048186	hsa-miR-4758-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004163	Function	Diphosphomevalonate decarboxylase activity	IBA
GO:0004163	Function	Diphosphomevalonate decarboxylase activity	IDA	11792727, 14680974
GO:0004163	Function	Diphosphomevalonate decarboxylase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	14972328
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	14972328
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	14972328
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	NAS	14680974
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	9270019
GO:0008299	Process	Isoprenoid biosynthetic process	IDA	11792727, 14680974
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA
GO:0030544	Function	Hsp70 protein binding	IPI	12646231
GO:0042803	Function	Protein homodimerization activity	IDA	8626466

MIM	HGNC	e!Ensembl
603236	7529	ENSG00000167508

P53602

Protein name

Diphosphomevalonate decarboxylase (EC 4.1.1.33) (Mevalonate (diphospho)decarboxylase) (MDDase) (Mevalonate pyrophosphate decarboxylase)

Protein function

Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoi

PDB

3D4J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00288	GHMP_kinases_N	111 → 166	GHMP kinases N terminal domain	Family
PF18376	MDD_C	197 → 382	Mevalonate 5-diphosphate decarboxylase C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta. {ECO:0000269|PubMed:8626466}.

Sequence

MASEKPLAAVTCTAPVNIAVIKYWGKRDEELVLPINSSLSVTLHQDQLKTTTTAVISKDF
TEDRIWLNGREEDVGQPRLQACLREIRCLARKRRNSRDGDPLPSSLSCKVHVASVNNFPT
AAGLASSAAGYACLAYTLARVYGVESDLSEVARRGSGSACRSLYGGFVEWQMGEQADGKD
SIARQVAPESHWPELRVLILVVSAEKKLTGSTVGMRASVETSPLLRFRAESVVPARMAEM
ARCIRERDFPSFAQLTMKDSNQFHATCLDTFPPISYLNAISWRIIHLVHRFNAHHGDTKV
AYTFDAGPNAVIFTLDDTVAEFVAAVWHGFPPGSNGDTFLKGLQVRPAPLSAELQAALAM
EPTPGGVKYIIVTQVGPGPQILDDPCAHLLGPDGLPKPAA

Sequence length

400

Interactions

View interactions

	KEGG		Reactome
	Terpenoid backbone biosynthesis Metabolic pathways		Cholesterol biosynthesis Activation of gene expression by SREBF (SREBP) Synthesis of Dolichyl-phosphate

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Linear porokeratosis	Likely pathogenic	rs2142896426	RCV001849673
MVD-related disorder	Pathogenic	rs761991070	RCV004757180
Porokeratosis 7, multiple types	Pathogenic	rs2142906391, rs780212718, rs761991070, rs755948940	RCV001733589 RCV001784685 RCV000239486 RCV000239520

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs79325107, rs148833471	RCV005933606 RCV005910510
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs148833471	RCV005910514
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200035262, rs79325107, rs148833471	RCV005922803 RCV005933608 RCV005910515
Clear cell carcinoma of kidney	Benign; Likely benign	rs148833471	RCV005910516
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200035262, rs148833471	RCV005922801 RCV005910509
Colorectal cancer	Conflicting classifications of pathogenicity	rs200035262	RCV005922804
Familial cancer of breast	Benign; Likely benign	rs148833471	RCV005910508
Gastric cancer	Conflicting classifications of pathogenicity; Benign	rs200035262, rs79325107	RCV005922805 RCV005933610
Hepatocellular carcinoma	Benign; Likely benign	rs148833471	RCV005910512
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200035262, rs79325107, rs148833471	RCV005922808 RCV005933611 RCV005910521
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs200035262, rs769646021, rs79325107, rs148833471	RCV005922802 RCV005930856 RCV005933607 RCV005910513
Malignant tumor of urinary bladder	Benign; Likely benign	rs148833471	RCV005910511
Melanoma	Benign; Likely benign	rs148833471	RCV005910520
Nonsyndromic hearing impairment	Uncertain significance	rs1200311854	RCV001543101
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200035262, rs148833471	RCV005922806 RCV005910518
Sarcoma	Benign	rs79325107	RCV005933609
Thymoma	Conflicting classifications of pathogenicity	rs200035262	RCV005922807
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs148833471	RCV005910519
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200035262, rs79325107, rs148833471	RCV005922809 RCV005933612 RCV005910522
Uveal melanoma	Benign; Likely benign	rs148833471	RCV005910517

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Hypercholesterolemia	Associate	8626466
Polycystic Ovary Syndrome	Associate	37537636
Porokeratosis	Associate	26202976, 30942823, 31207227, 33491095

MVD (mevalonate diphosphate decarboxylase)