FBP2 (fructose-bisphosphatase 2)

Gene

• Entrez ID: 8789
• Gene name: Fructose-bisphosphatase 2
• Gene symbol: FBP2
• Synonyms (NCBI Gene): CORLK
• Chromosome: 9
• Chromosome location: 9q22.32
• Summary: This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016705	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006000	Process	Fructose metabolic process	IBA
GO:0006000	Process	Fructose metabolic process	TAS	9678974
GO:0006002	Process	Fructose 6-phosphate metabolic process	IBA
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA
GO:0042132	Function	Fructose 1,6-bisphosphate 1-phosphatase activity	IBA
GO:0042132	Function	Fructose 1,6-bisphosphate 1-phosphatase activity	IEA
GO:0042578	Function	Phosphoric ester hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 31515488, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 603027
• HGNC: 3607
• e!Ensembl: ENSG00000130957

Protein

• UniProt ID: O00757
• Protein name: Fructose-1,6-bisphosphatase isozyme 2 (FBPase 2) (EC 3.1.3.11) (D-fructose-1,6-bisphosphate 1-phosphohydrolase 2) (Muscle FBPase)
• Protein function: Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate. {ECO:0000269|PubMed:17350621, ECO:00
• PDB: 3IFA, 3IFC, 4HE0, 4HE1, 4HE2, 5ET5, 5ET6, 5ET7, 5ET8, 5K54, 5K55, 5K56, 5L0A, 5Q0C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00316	FBPase	12 → 199	Fructose-1-6-bisphosphatase, N-terminal domain	Domain
  PF18913	FBPase_C	203 → 333	Fructose-1-6-bisphosphatase, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level). {ECO:0000269|PubMed:12507293}.
• Sequence:

  MTDRSPFETDMLTLTRYVMEKGRQAKGTGELTQLLNSMLTAIKAISSAVRKAGLAHLYGI
  AGSVNVTGDEVKKLDVLSNSLVINMVQSSYSTCVLVSEENKDAIITAKEKRGKYVVCFDP
  LDGSSNIDCLASIGTIFAIYRKTSEDEPSEKDALQCGRNIVAAGYALYGSATLVALSTGQ
  GVDLFMLDPALGEFVLVEKDVKIKKKGKIYSLNEGYAKYFDAATTEYVQKKKFPEDGSAP
  YGARYVGSMVADVHRTLVYGGIFLYPANQKSPKGKLRLLYECNPVAYIIEQAGGLATTGT
  QPVLDVKPEAIHQRVPLILGSPEDVQEYLTCVQKNQAGS

• Sequence length: 339

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Fructose and mannose metabolism
Metabolic pathways
Carbon metabolism
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway

Reactome:

Gluconeogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Leukodystrophy, childhood-onset, remitting	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations