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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5106
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphoenolpyruvate carboxykinase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCK2
Synonyms (NCBI Gene) Gene synonyms aliases	PEPCK, PEPCK-M, PEPCK2, mtPCK2
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q11.2-q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of glucone

Show/Hide all(36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030573	hsa-miR-24-3p	Microarray	19748357
MIRT031958	hsa-miR-16-5p	Proteomics	18668040
MIRT1217765	hsa-miR-491-3p	CLIP-seq
MIRT1217766	hsa-miR-500a	CLIP-seq
MIRT1217767	hsa-miR-501-3p	CLIP-seq
MIRT1217768	hsa-miR-502-3p	CLIP-seq
MIRT1217769	hsa-miR-183	CLIP-seq
MIRT1217770	hsa-miR-4265	CLIP-seq
MIRT1217771	hsa-miR-4296	CLIP-seq
MIRT1217772	hsa-miR-4322	CLIP-seq
MIRT1217773	hsa-miR-4520a-3p	CLIP-seq
MIRT1217774	hsa-miR-4520b-3p	CLIP-seq
MIRT1217775	hsa-miR-4648	CLIP-seq
MIRT1217776	hsa-miR-4654	CLIP-seq
MIRT1217777	hsa-miR-4699-5p	CLIP-seq
MIRT1217778	hsa-miR-4709-3p	CLIP-seq
MIRT1217779	hsa-miR-4747-5p	CLIP-seq
MIRT1217780	hsa-miR-4769-5p	CLIP-seq
MIRT1217781	hsa-miR-4795-3p	CLIP-seq
MIRT1217782	hsa-miR-493	CLIP-seq
MIRT1217773	hsa-miR-4520a-3p	CLIP-seq
MIRT1217774	hsa-miR-4520b-3p	CLIP-seq
MIRT1217777	hsa-miR-4699-5p	CLIP-seq
MIRT1217778	hsa-miR-4709-3p	CLIP-seq
MIRT1217781	hsa-miR-4795-3p	CLIP-seq
MIRT2291378	hsa-miR-1178	CLIP-seq
MIRT2291379	hsa-miR-1279	CLIP-seq
MIRT2291380	hsa-miR-18a	CLIP-seq
MIRT2291381	hsa-miR-18b	CLIP-seq
MIRT2291382	hsa-miR-2276	CLIP-seq
MIRT2291383	hsa-miR-302f	CLIP-seq
MIRT2291384	hsa-miR-4708-3p	CLIP-seq
MIRT2291385	hsa-miR-4735-3p	CLIP-seq
MIRT2291386	hsa-miR-4761-5p	CLIP-seq
MIRT2291387	hsa-miR-4772-3p	CLIP-seq
MIRT2291388	hsa-miR-544	CLIP-seq

Transcription factors

Show/Hide all(14)

Transcription factor	Regulation	Reference
ATF2	Unknown	11042264
CEBPA	Unknown	11042264
CEBPB	Activation	8093246
CREBBP	Unknown	10085123;11997389
FOS	Unknown	1325459
HDAC3	Unknown	17456789
JUN	Unknown	1325459
NCOR2	Unknown	17456789
NFIA	Unknown	10085123
NR0B2	Repression	17094771
NR0B2	Unknown	15358835
PPARGC1A	Activation	16891307
RELA	Repression	20137375
SRCAP	Unknown	11522779

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004611	Function	Phosphoenolpyruvate carboxykinase activity	TAS	8645161
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IBA	21873635
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	TAS
GO:0005515	Function	Protein binding	IPI	21988832
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006094	Process	Gluconeogenesis	IBA	21873635
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006116	Process	NADH oxidation	IEA
GO:0019543	Process	Propionate catabolic process	IBA	21873635
GO:0030145	Function	Manganese ion binding	IBA	21873635
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IBA	21873635
GO:0033993	Process	Response to lipid	IBA	21873635
GO:0042594	Process	Response to starvation	IBA	21873635
GO:0046327	Process	Glycerol biosynthetic process from pyruvate	IBA	21873635
GO:0070365	Process	Hepatocyte differentiation	IBA	21873635
GO:0071333	Process	Cellular response to glucose stimulus	IBA	21873635
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IBA	21873635

MIM	HGNC	e!Ensembl
614095	8725	ENSG00000100889

Protein

UniProt ID

Q16822

Protein name

Phosphoenolpyruvate carboxykinase [GTP], mitochondrial (PEPCK-M) (EC 4.1.1.32) (Phosphoenolpyruvate carboxykinase 2, mitochondrial) (mtPCK2)

Protein function

Mitochondrial phosphoenolpyruvate carboxykinase that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived fro

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17297	PEPCK_N	46 → 274	Phosphoenolpyruvate carboxykinase N-terminal domain	Domain
PF00821	PEPCK_GTP	278 → 637	Phosphoenolpyruvate carboxykinase C-terminal P-loop domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9657976}.

Sequence

MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEHSARLCQPEGI
HICDGTEAENTATLTLLEQQGLIRKLPKYNNCWLARTDPKDVARVESKTVIVTPSQRDTV
PLPPGGARGQLGNWMSPADFQRAVDERFPGCMQGRTMYVLPFSMGPVGSPLSRIGVQLTD
SAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPLTGQGEPVSQWPCNPEKTLIGHV
PDQREIISFGSGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAA
AFPSACGKTNLAMMRPALPGWKVECVGDDIAWMRFDSEGRLRAINPENGFFGVAPGTSAT
TNPNAMATIQSNTIFTNVAETSDGGVYWEGIDQPLPPGVTVTSWLGKPWKPGDKEPCAHP
NSRFCAPARQCPIMDPAWEAPEGVPIDAIIFGGRRPKGVPLVYEAFNWRHGVFVGSAMRS
ESTAAAEHKGKIIMHDPFAMRPFFGYNFGHYLEHWLSMEGRKGAQLPRIFHVNWFRRDEA
GHFLWPGFGENARVLDWICRRLEGEDSARETPIGLVPKEGALDLSGLRAIDTTQLFSLPK
DFWEQEVRDIRSYLTEQVNQDLPKEVLAELEALERRVHKM

Sequence length

640

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Citrate cycle (TCA cycle) Pyruvate metabolism Metabolic pathways PPAR signaling pathway FoxO signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Insulin signaling pathway Adipocytokine signaling pathway Glucagon signaling pathway Insulin resistance Proximal tubule bicarbonate reclamation		Gluconeogenesis

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase 2 deficiency, Phosphoenolpyruvate carboxykinase deficiency, Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	rs202197769	2044592

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	32777161
Autism Spectrum Disorder	Associate	36320054
Bone Diseases	Associate	31574189
Breast Neoplasms	Associate	34312289, 35265226, 35580079, 35757841
Carcinogenesis	Associate	32210020
Carcinoma Hepatocellular	Associate	28378759, 31406102, 33893083, 8626491
Carcinoma Hepatocellular	Inhibit	32210020
Carcinoma Non Small Cell Lung	Associate	32777161
Celiac Disease	Associate	20454521
Colorectal Neoplasms	Associate	37304670
Diabetes Mellitus Type 2	Associate	21726808
Esophageal Squamous Cell Carcinoma	Associate	33142842
Hypoxia	Inhibit	29843131
Insulin Resistance	Associate	22457523, 31679138, 38102588
Insulin Resistance	Stimulate	29362600
Intellectual Disability	Associate	36320054
Lung Neoplasms	Associate	32777161, 34520823
Metabolic Diseases	Associate	31574189
Neoplasm Metastasis	Associate	32777161
Neoplasms	Associate	31861674, 32777161, 34312289, 35757841, 37304670
Neoplasms	Inhibit	35580079
Obesity	Associate	30177354
Ovarian Neoplasms	Associate	32878513
Rectal Neoplasms	Associate	24602180
Stomach Neoplasms	Associate	30380689
Triple Negative Breast Neoplasms	Associate	35757841
Urinary Bladder Neoplasms	Associate	26299484
Wounds and Injuries	Associate	32210020

PCK2 (phosphoenolpyruvate carboxykinase 2, mitochondrial)