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	5162
Gene name	Pyruvate dehydrogenase E1 subunit beta
Gene symbol	PDHB
Synonyms (NCBI Gene)	E1betaPDHBDPDHE1-BPDHE1BPHE1B
Chromosome	3
Chromosome location	3p14.3
Summary	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933391	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28935769	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs863224158	A>T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs863225125	TACATACCATA>-	Pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant

155

Show/Hide all (155)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027487	hsa-miR-98-5p	Microarray	19088304
MIRT052771	hsa-miR-1260b	CLASH	23622248
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT1221347	hsa-miR-764	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221349	hsa-miR-185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT1221351	hsa-miR-3150b-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT1221355	hsa-miR-4306	CLIP-seq
MIRT1221356	hsa-miR-4644	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221358	hsa-miR-4693-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221360	hsa-miR-4784	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221363	hsa-miR-765	CLIP-seq
MIRT2063889	hsa-miR-431	CLIP-seq
MIRT1221349	hsa-miR-185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT1221355	hsa-miR-4306	CLIP-seq
MIRT1221356	hsa-miR-4644	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221358	hsa-miR-4693-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT2292394	hsa-miR-587	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT2590474	hsa-miR-3064-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT2590474	hsa-miR-3064-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT2063889	hsa-miR-431	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	18164639, 19081061
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IEA
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	TAS	2376596
GO:0005515	Function	Protein binding	IPI	12651851, 18206651, 19081061, 29128334, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	2295468
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IBA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IC	18164639
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	19081061, 24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	TAS	2376596
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IBA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	19081061
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0072522	Process	Purine-containing compound biosynthetic process	IEA

MIM	HGNC	e!Ensembl
179060	8808	ENSG00000168291

P11177

Protein name

Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (PDHE1-B) (EC 1.2.4.1)

Protein function

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

PDB

1NI4 , 2OZL , 3EXE , 3EXF , 3EXG , 3EXH , 3EXI , 6CER , 6CFO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02779	Transket_pyr	32 → 209	Transketolase, pyrimidine binding domain	Domain
PF02780	Transketolase_C	226 → 349	Transketolase, C-terminal domain	Domain

Sequence

MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEV
AQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAI
DQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNS
EDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPIGKAKIERQGTHITVV
SHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFG
VGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI

Sequence length

359

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Citrate cycle (TCA cycle) Pyruvate metabolism Lipoic acid metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism HIF-1 signaling pathway Glucagon signaling pathway Central carbon metabolism in cancer Diabetic cardiomyopathy		Regulation of pyruvate dehydrogenase (PDH) complex Glyoxylate metabolism and glycine degradation Signaling by Retinoic Acid Pyruvate metabolism

394

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs201199166	RCV005909244
Clear cell carcinoma of kidney	Likely pathogenic	rs1019990431	RCV005927719
Familial cancer of breast	Likely pathogenic	rs201199166	RCV005909243
Lung cancer	Likely pathogenic	rs201199166	RCV005909246
Pyruvate dehydrogenase E1-beta deficiency	Likely pathogenic; Pathogenic	rs2107943571, rs778727916, rs2471370449, rs2471363855, rs2471374605, rs28935769, rs28933391, rs2471367783, rs1019990431, rs772084220, rs1454439049, rs373124742, rs767832452, rs1390415306, rs2471365738 View all (17 more)	RCV001961206 RCV002775492 RCV003110162 RCV003155614 RCV003228201 RCV000014076 RCV000014077 RCV003476729 RCV003476731 RCV003476732 RCV003476733 RCV003476734 RCV003476735 RCV003516232 RCV003515261 RCV003626941 RCV003626943 RCV003627667 RCV003628266 RCV003628573 RCV003626189 RCV003819867 RCV003831100 RCV003863483 RCV003878423 RCV004574484 RCV004574485 RCV001041351 RCV001257311 RCV001257312 RCV001257314 RCV001257315
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs201199166	RCV005909245
Uterine corpus endometrial carcinoma	Likely pathogenic	rs201199166	RCV005909247

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs767192593, rs377063331	RCV005926769 RCV005897724
PDHB-related disorder	Benign; Likely benign	rs138621975	RCV003952667
Pyruvate dehydrogenase complex deficiency	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11542399, rs201105914, rs886058775, rs377063331, rs759146810, rs139242990, rs886058777, rs35161513, rs762644804, rs200429396, rs149830613, rs374476885, rs755616546, rs2062893319, rs148957406 View all (6 more)	RCV001275345 RCV001275344 RCV000330983 RCV001275615 RCV000337109 RCV001280188 RCV000342476 RCV000379266 RCV001275617 RCV001277696 RCV001280181 RCV001280180 RCV001280182 RCV001280183 RCV001280184 RCV001280185 RCV001280186 RCV001280187 RCV001277695 RCV001277697 RCV001277698
Pyruvate dehydrogenase phosphatase deficiency	Uncertain significance; Likely benign; Benign	rs202185395, rs1349270970, rs2107943891, rs1126551, rs1641509410, rs2062893552, rs995367578, rs4264746, rs759053641, rs761614417	RCV001831053 RCV005606878 RCV005606869 RCV001831909 RCV005608888 RCV005609064 RCV005610646 RCV001830474 RCV001275616 RCV001833896
See cases	Uncertain significance	rs2471370508	RCV003232626
Seizure	Uncertain significance	rs201470762	RCV000781979
Uveal melanoma	Conflicting classifications of pathogenicity	rs759146810	RCV005869344

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	40050878
Alzheimer Disease	Associate	39396083
Arthritis Rheumatoid	Associate	37547319
Carcinoma Pancreatic Ductal	Associate	36826087
Carcinoma Renal Cell	Associate	37350959, 37641032
Cardiomyopathy Dilated	Associate	27711126
Coenzyme Q10 Deficiency	Associate	26014431
Colorectal Neoplasms	Associate	38078879
Depressive Disorder Major	Associate	40149491
Diabetes Mellitus	Associate	37773841
Diabetes Mellitus Type 2	Stimulate	26367490
Esophageal Neoplasms	Associate	38159255
Esophageal Squamous Cell Carcinoma	Associate	37866660
Glioma	Associate	30178846, 36270342
Growth Disorders	Associate	40050878
Leigh Disease	Associate	36675121
Microcephaly with Mental Retardation and Digital Anomalies	Associate	40050878
Multiple Myeloma	Associate	38018590
Neoplasms	Inhibit	37641032
Neoplastic Syndromes Hereditary	Associate	35235001
Osteoarthritis	Associate	36817415, 37809099
Parkinson Disease	Associate	36593912
Pulmonary Disease Chronic Obstructive	Associate	40255693
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	17923481, 35038180, 40050878
Seizures	Associate	40050878
Stomach Neoplasms	Associate	20699381
Stomach Neoplasms	Stimulate	37505170

PDHB (pyruvate dehydrogenase E1 subunit beta)