FBP2

fructose-bisphosphatase 2, the group of Fructose-1,6-bisphosphatases

Basic information

Region (hg38): 9:94558720-94593824

Links

ENSG00000130957

∙ NCBI:8789 ∙ OMIM:603027 ∙ HGNC:3607 ∙ Uniprot:O00757 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Leukodystrophy, childhood-onset, remitting	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic	33977262

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBP2 gene.

not_specified (50 variants)
not_provided (8 variants)
Leukodystrophy,_childhood-onset,_remitting (2 variants)
Neurodevelopmental_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003837.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			52 clinvar	2 clinvar	2 clinvar	56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	3	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBP2	protein_coding	protein_coding	ENST00000375337	7	35074

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000221	0.922	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.190	201	209	0.963	0.0000124	2172
Missense in Polyphen		65	75.015	0.8665		787
Synonymous	0.0346	92	92.4	0.995	0.00000626	704
Loss of Function	1.59	8	14.5	0.550	6.95e-7	185

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000453	0.000453
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000791	0.0000791
Middle Eastern	0.000272	0.000272
South Asian	0.000163	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: 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:0000269|PubMed:18214967}.;
Pathway: Glycolysis / Gluconeogenesis - Homo sapiens (human);Fructose and mannose metabolism - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Pentose phosphate pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Glycolysis and Gluconeogenesis;Metabolism of carbohydrates;Fructose Mannose metabolism;Glycolysis Gluconeogenesis;Metabolism;Pentose phosphate cycle;gluconeogenesis;Gluconeogenesis;Glucose metabolism (Consensus)

Recessive Scores

pRec: 0.233

Intolerance Scores

loftool: 0.462
rvis_EVS: 0.49
rvis_percentile_EVS: 79.46

Haploinsufficiency Scores

pHI: 0.166
hipred: N
hipred_score: 0.410
ghis: 0.394

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.981

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Fbp2
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype;

Gene ontology

Biological process: sucrose biosynthetic process;fructose metabolic process;fructose 6-phosphate metabolic process;gluconeogenesis;dephosphorylation;fructose 1,6-bisphosphate metabolic process
Cellular component: nucleoplasm;cytoplasm;cytosol;plasma membrane;Z disc;cell junction;extracellular exosome
Molecular function: protein binding;fructose 1,6-bisphosphate 1-phosphatase activity;identical protein binding;metal ion binding