FBP2 fructose-bisphosphatase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBP2provided by HGNC
Official Full Name: fructose-bisphosphatase 2provided by HGNC
Primary source: HGNC:HGNC:3607
See related: Ensembl:ENSG00000130957 MIM:603027; AllianceGenome:HGNC:3607
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CORLK
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]
Expression: Biased expression in stomach (RPKM 15.5), esophagus (RPKM 4.0) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (94558720..94593824, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (106728044..106763156, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (97321002..97356106, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA methyltransferase 3a-induced hypermethylation of the fructose-1,6-bisphosphatase-2 promoter contributes to gastric carcinogenesis.
Title: DNA methyltransferase 3a-induced hypermethylation of the fructose-1,6-bisphosphatase-2 promoter contributes to gastric carcinogenesis.
TRIM32 promotes oral squamous cell carcinoma progression by enhancing FBP2 ubiquitination and degradation.
Title: TRIM32 promotes oral squamous cell carcinoma progression by enhancing FBP2 ubiquitination and degradation.
Fructose-1,6-Bisphosphatase 2 Inhibits Sarcoma Progression by Restraining Mitochondrial Biogenesis.
Title: Fructose-1,6-Bisphosphatase 2 Inhibits Sarcoma Progression by Restraining Mitochondrial Biogenesis.
The Reverse Warburg Effect is Associated with Fbp2-Dependent Hif1alpha Regulation in Cancer Cells Stimulated by Fibroblasts.
Title: The Reverse Warburg Effect is Associated with Fbp2-Dependent Hif1α Regulation in Cancer Cells Stimulated by Fibroblasts.
MiR-591 could suppress FBP2 expression.
Title: MicroRNA-591 Functions as a Tumor Suppressor in Hepatocellular Carcinoma by Lowering Drug Resistance through Inhibition of Far-Upstream Element-Binding Protein 2-Mediated Phosphoinositide 3-Kinase/Akt/Mammalian Target of Rapamycin Axis.
Results demonstrate that truncation of the evolutionarily conserved N-terminal residues of FBP2 results in a loss of its mitochondria-protective functions.
Title: Changes in quaternary structure of muscle fructose-1,6-bisphosphatase regulate affinity of the enzyme to mitochondria.
FBP2 does negatively regulate cell growth, and reduced expression of FBP2 may contribute to carcinogenesis for gastric cancer.
Title: Decreased fructose-1,6-bisphosphatase-2 expression promotes glycolysis and growth in gastric cancer cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
The existence of highly AMP-sensitive muscle-like FBPase, activity of which is regulated by metabolite-dependent interaction with aldolase enables the precise regulation of muscle energy expenditures.
Title: Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase.
The key role in strong AMP binding to muscle isozyme play K20, T177 and Q179.
Title: The origin of the high sensitivity of muscle fructose 1,6-bisphosphatase towards AMP.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leukodystrophy, childhood-onset, remitting MedGen: C5676979 OMIM: 619864 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
matrix	gag	HIV-1 Matrix activates fructose 1,6-bisphosphatase gene expression by induction of a 1alpha-hydroxylase activity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:490241

RH41808 (e-PCR)
- UniSTS:37663

STS-AA025150 (e-PCR)
- UniSTS:43324

070XB11 (e-PCR)
- UniSTS:61778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fructose 1,6-bisphosphate 1-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fructose 1,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in gluconeogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in gluconeogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: fructose-1,6-bisphosphatase isozyme 2

Names: D-fructose-1,6-bisphosphate 1-phosphohydrolase 2; FBPase 2; fructose-1,6-bisphosphatase 2; hexosediphosphatase; muscle FBPase; muscle fructose-bisphosphatase

NP_003828.2

EC 3.1.3.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003837.4 → NP_003828.2 fructose-1,6-bisphosphatase isozyme 2

See identical proteins and their annotated locations for NP_003828.2

Status: REVIEWED

Source sequence(s)

AJ573829, BM686555, CR536483

Consensus CDS

CCDS6711.1

UniProtKB/Swiss-Prot

O00757, Q17R39, Q6FI53

Related

ENSP00000364486.3, ENST00000375337.4

Conserved Domains (1) summary

cd00354
Location:18 → 329

FBPase; Fructose-1,6-bisphosphatase, an enzyme that catalyzes the hydrolysis of fructose-1,6-biphosphate into fructose-6-phosphate and is critical in gluconeogenesis pathway. The alignment model also includes chloroplastic FBPases and sedoheptulose-1, ...