PFKFB1

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1, the group of 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases

Basic information

Region (hg38): X:54932961-54998534

Previous symbols: [ "PFRX" ]

Links

ENSG00000158571 ∙ NCBI:5207 ∙ OMIM:311790 ∙ HGNC:8872 ∙ Uniprot:P16118 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PFKFB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PFKFB1 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						0
missense			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			4	1		5
Total	0	0	30	3	0

Variants in PFKFB1

This is a list of pathogenic ClinVar variants found in the PFKFB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-54933413-G-C		not specified	Uncertain significance (Nov 09, 2024)
X-54933456-C-G		not specified	Uncertain significance (Apr 23, 2024)
X-54934988-C-T		not specified	Uncertain significance (Dec 15, 2023)
X-54934991-T-C		Congenital long QT syndrome	Uncertain significance (Jan 05, 2025)
X-54937609-A-G		not specified	Conflicting classifications of pathogenicity (Apr 01, 2023)
X-54937630-C-T		not specified	Uncertain significance (Jan 19, 2024)
X-54937643-G-C		not specified	Uncertain significance (Jan 27, 2022)
X-54937649-A-C		not specified	Uncertain significance (Mar 28, 2024)
X-54937723-G-C		not specified	Uncertain significance (Oct 08, 2024)
X-54937730-C-A		not specified	Likely benign (Mar 11, 2016)
X-54945464-T-C		not specified	Uncertain significance (Feb 14, 2025)
X-54945488-A-T			Likely benign (-)
X-54945506-T-C		not specified	Uncertain significance (Jul 12, 2022)
X-54945524-G-A		not specified	Uncertain significance (Apr 04, 2024)
X-54949091-A-T		not specified	Uncertain significance (Jun 19, 2024)
X-54949184-C-A		not specified	Uncertain significance (Jan 16, 2024)
X-54951945-C-T			Likely benign (Mar 01, 2023)
X-54951970-C-T		not specified	Uncertain significance (Jan 03, 2024)
X-54951990-A-G		not specified	Uncertain significance (Aug 13, 2021)
X-54951996-C-T		not specified	Uncertain significance (Oct 25, 2024)
X-54952016-C-T		not specified	Uncertain significance (Mar 01, 2023)
X-54952069-T-A		not specified	Uncertain significance (Feb 20, 2025)
X-54952075-G-A		not specified	Uncertain significance (Apr 07, 2022)
X-54956163-C-T		not specified	Uncertain significance (Apr 20, 2023)
X-54956174-G-T		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PFKFB1	protein_coding	protein_coding	ENST00000375006	14	65574

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.88e-7	0.961	125692	19	36	125747	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0481	192	190	1.01	0.0000152	3083
Missense in Polyphen		87	99.726	0.87239		1508
Synonymous	0.578	60	66.0	0.909	0.00000478	891
Loss of Function	1.97	14	24.5	0.571	0.00000222	344

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00137	0.00116
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000257	0.000185
European (Non-Finnish)	0.000308	0.000220
Middle Eastern	0.00	0.00
South Asian	0.000109	0.0000653
Other	0.000452	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Synthesis and degradation of fructose 2,6-bisphosphate.
• Pathway: Fructose and mannose metabolism - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Glucagon signaling pathway - Homo sapiens (human);Fructose intolerance, hereditary;Fructose and Mannose Degradation;Fructosuria;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Aminosugars metabolism;Metabolism of carbohydrates;PKA-mediated phosphorylation of key metabolic factors;PP2A-mediated dephosphorylation of key metabolic factors;Fructose Mannose metabolism;Glycolysis Gluconeogenesis;Glycolysis and Gluconeogenesis;Metabolism;fructose 2,6-bisphosphate synthesis;Glycolysis;Glucose metabolism;Integration of energy metabolism (Consensus)

Recessive Scores

• pRec: 0.235

Intolerance Scores

• loftool: 0.448
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.59

Haploinsufficiency Scores

• pHI: 0.420
• hipred: N
• hipred_score: 0.369
• ghis: 0.554

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.700

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pfkfb1

Gene ontology

• Biological process: fructose metabolic process;fructose 2,6-bisphosphate metabolic process;gluconeogenesis;glycolytic process;dephosphorylation;animal organ regeneration;response to insulin;positive regulation of glucokinase activity;response to glucagon;response to starvation;negative regulation of glycolytic process;positive regulation of glycolytic process;carbohydrate phosphorylation;response to glucocorticoid;response to cAMP
• Cellular component: cytosol;6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex
• Molecular function: 6-phosphofructo-2-kinase activity;fructose-2,6-bisphosphate 2-phosphatase activity;protein binding;ATP binding;kinase binding;identical protein binding;fructose-6-phosphate binding