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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			19		2	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	3

Variants in FBP2

This is a list of pathogenic ClinVar variants found in the FBP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-94558939-T-C			Benign (Dec 31, 2019)
9-94558959-C-G		not specified	Uncertain significance (Oct 13, 2023)
9-94559033-C-T		not specified	Uncertain significance (Jan 16, 2024)
9-94559042-C-A		not specified	Uncertain significance (Sep 01, 2021)
9-94559063-C-G		not specified	Uncertain significance (Mar 18, 2024)
9-94559122-A-G			Likely benign (Jul 01, 2024)
9-94559128-C-A		not specified	Uncertain significance (Mar 18, 2024)
9-94563388-C-G		not specified	Uncertain significance (Mar 06, 2023)
9-94563421-A-G		not specified	Uncertain significance (Dec 06, 2023)
9-94567300-A-G			Benign (Dec 31, 2019)
9-94567340-A-G		not specified	Uncertain significance (Aug 21, 2023)
9-94567343-C-T		not specified	Benign (Jan 06, 2020)
9-94567349-A-G		not specified	Uncertain significance (Apr 12, 2024)
9-94571466-T-A		not specified	Uncertain significance (Jun 02, 2024)
9-94571473-T-C		not specified	Uncertain significance (May 15, 2024)
9-94571484-A-T		not specified	Uncertain significance (Oct 05, 2022)
9-94571485-C-T		not specified	Uncertain significance (Apr 25, 2023)
9-94571520-C-A		not specified	Uncertain significance (Feb 16, 2023)
9-94571525-G-A			Likely benign (Jan 01, 2023)
9-94584606-T-C		not specified	Uncertain significance (Aug 12, 2021)
9-94584660-C-T		Leukodystrophy, childhood-onset, remitting	Uncertain significance (Mar 01, 2024)
9-94584662-T-C		not specified	Uncertain significance (Aug 04, 2023)
9-94587330-T-C		not specified	Uncertain significance (Feb 21, 2024)
9-94587383-A-G			Benign (Nov 01, 2023)
9-94587429-C-G		not specified	Uncertain significance (Apr 20, 2024)

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