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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5106
Gene name	Phosphoenolpyruvate carboxykinase 2, mitochondrial
Gene symbol	PCK2
Synonyms (NCBI Gene)	PEPCKPEPCK-MPEPCK2mtPCK2
Chromosome	14
Chromosome location	14q11.2-q12
Summary	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

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 (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004611	Function	Phosphoenolpyruvate carboxykinase activity	IEA
GO:0004611	Function	Phosphoenolpyruvate carboxykinase activity	TAS	8645161
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	EXP	9657976
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IBA
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IDA	28955899
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IEA
GO:0005515	Function	Protein binding	IPI	21988832
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	8645161
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8645161
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006107	Process	Oxaloacetate metabolic process	IBA
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0017076	Function	Purine nucleotide binding	IEA
GO:0019543	Process	Propionate catabolic process	IBA
GO:0030145	Function	Manganese ion binding	IBA
GO:0030145	Function	Manganese ion binding	IDA	28955899
GO:0030145	Function	Manganese ion binding	IEA
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
GO:0042594	Process	Response to starvation	IBA
GO:0046327	Process	Glycerol biosynthetic process from pyruvate	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070365	Process	Hepatocyte differentiation	IBA
GO:0071333	Process	Cellular response to glucose stimulus	IBA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IBA

MIM	HGNC	e!Ensembl
614095	8725	ENSG00000100889

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

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs111490053	RCV005921407
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	rs564021964, rs138881435	RCV005931509 RCV005898741
Colorectal cancer	Uncertain significance	rs773385825	RCV005934667
Familial cancer of breast	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs111490053, rs45477394, rs564021964, rs376278710, rs138881435	RCV005921406 RCV005931392 RCV005931508 RCV005901204 RCV005898739
Gastric cancer	Conflicting classifications of pathogenicity	rs138881435	RCV005898743
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs148019349	RCV005900977
Lung cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs111490053, rs371173730, rs148019349, rs138881435	RCV005921409 RCV005931280 RCV005900980 RCV005898747
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs148019349, rs138881435	RCV005900978 RCV005898740
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs148019349	RCV005900976
Melanoma	Benign	rs111490053	RCV005921408
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs145832168, rs138881435	RCV005931402 RCV005898744
PCK2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs139733386, rs143639714, rs770977717, rs199562600, rs371173730, rs781084380, rs201496467, rs541317046, rs61737097, rs770574824, rs2502652983, rs533781164, rs2037111548, rs186588601, rs376443548 View all (5 more)	RCV003903808 RCV003916672 RCV003410357 RCV003938920 RCV003919253 RCV003966535 RCV004756529 RCV003929295 RCV004756538 RCV003896925 RCV003899836 RCV003963959 RCV003954960 RCV003967203 RCV003976502 RCV003972625 RCV004755943 RCV003938134 RCV003895462 RCV004756207
PCK2-related neuropathy	Uncertain significance	rs775144169	RCV003108145
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Conflicting classifications of pathogenicity	rs138881435	RCV005357793
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs145739132, rs201059299, rs770940344, rs746104381, rs771187723, rs201279659, rs201814810, rs61752842, rs141383988, rs148019349, rs61737098, rs61497654	RCV001332484 RCV001335153 RCV001335152 RCV002491992 RCV002250181 RCV004813230 RCV005637019 RCV001169903 RCV003129857 RCV000509359 RCV001335151 RCV002501488
Sarcoma	Conflicting classifications of pathogenicity	rs138881435	RCV005898742
Thymoma	Conflicting classifications of pathogenicity	rs148019349, rs138881435	RCV005900979 RCV005898745
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs138881435	RCV005898746

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)