• Gene id: 5106

Gene Summary

• Gene Symbol: PCK2   Gene   UCSC   Ensembl
• Aliases: PEPCK, PEPCK-M, PEPCK2
• Gene name: phosphoenolpyruvate carboxykinase 2, mitochondrial
• Alternate names: phosphoenolpyruvate carboxykinase [GTP], mitochondrial, PEP carboxykinase, epididymis secretory sperm binding protein, phosphopyruvate carboxylase,
• Gene location: 14q11.2-q12 (231626789: 232041271)     Exons: 19     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 614095

Protein Summary

• Protein general information: Q16822  
  • Name: Phosphoenolpyruvate carboxykinase [GTP], mitochondrial (PEPCK M) (EC 4.1.1.32)
  • Length: 640  
  • Mass: 70699
• Sequence:

  MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEHSARLCQPEGIHICDGTEAENTATLT
  LLEQQGLIRKLPKYNNCWLARTDPKDVARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPG
  CMQGRTMYVLPFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPLTGQGEPV
  SQWPCNPEKTLIGHVPDQREIISFGSGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAA
  AFPSACGKTNLAMMRPALPGWKVECVGDDIAWMRFDSEGRLRAINPENGFFGVAPGTSATTNPNAMATIQSNTIF
  TNVAETSDGGVYWEGIDQPLPPGVTVTSWLGKPWKPGDKEPCAHPNSRFCAPARQCPIMDPAWEAPEGVPIDAII
  FGGRRPKGVPLVYEAFNWRHGVFVGSAMRSESTAAAEHKGKIIMHDPFAMRPFFGYNFGHYLEHWLSMEGRKGAQ
  LPRIFHVNWFRRDEAGHFLWPGFGENARVLDWICRRLEGEDSARETPIGLVPKEGALDLSGLRAIDTTQLFSLPK
  DFWEQEVRDIRSYLTEQVNQDLPKEVLAELEALERRVHKM

• Structural information:
  • Interpro: IPR018091  IPR013035  IPR008209  IPR035077  IPR035078   IPR008210  
  • Prosite: PS00505
  • CDD: cd00819
  • STRING: ENSP00000216780
• Other Databases: GeneCards:  PCK2  Malacards:  PCK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0030145	manganese ion binding	IBA	molecular function
GO:0032869	cellular response to insulin stimulus	IBA	biological process
GO:0033993	response to lipid	IBA	biological process
GO:0042594	response to starvation	IBA	biological process
GO:0046327	glycerol biosynthetic process from pyruvate	IBA	biological process
GO:0071333	cellular response to glucose stimulus	IBA	biological process
GO:0004613	phosphoenolpyruvate carboxykinase (GTP) activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006090	pyruvate metabolic process	IBA	biological process
GO:0019543	propionate catabolic process	IBA	biological process
GO:0070365	hepatocyte differentiation	IBA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IBA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0006094	gluconeogenesis	IEA	biological process
GO:0017076	purine nucleotide binding	IEA	molecular function
GO:0004611	phosphoenolpyruvate carboxykinase activity	IEA	molecular function
GO:0004613	phosphoenolpyruvate carboxykinase (GTP) activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0006094	gluconeogenesis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004611	phosphoenolpyruvate carboxykinase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0004611	phosphoenolpyruvate carboxykinase activity	IEA	molecular function
GO:0004613	phosphoenolpyruvate carboxykinase (GTP) activity	IEA	molecular function
GO:0004613	phosphoenolpyruvate carboxykinase (GTP) activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006094	gluconeogenesis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04151	PI3K-Akt signaling pathway
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04068	FoxO signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa03320	PPAR signaling pathway
hsa00010	Glycolysis / Gluconeogenesis
hsa04920	Adipocytokine signaling pathway
hsa00620	Pyruvate metabolism
hsa00020	Citrate cycle
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R