PFKFB3

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, the group of 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes

Basic information

Region (hg38): 10:6144934-6254644

Links

ENSG00000170525

∙ NCBI:5209 ∙ OMIM:605319 ∙ HGNC:8874 ∙ Uniprot:Q16875 ∙ 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 PFKFB3 gene.

not_specified (62 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PFKFB3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004566.4. 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				2 clinvar	1 clinvar	3
missense			61 clinvar			61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	2	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PFKFB3	protein_coding	protein_coding	ENST00000379775	15	90615

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.246	0.754	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	262	349	0.750	0.0000241	3402
Missense in Polyphen		77	149.45	0.51522		1492
Synonymous	-0.801	160	148	1.08	0.0000109	996
Loss of Function	3.83	7	29.4	0.238	0.00000125	350

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000174	0.000174
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000478	0.0000462
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Synthesis and degradation of fructose 2,6-bisphosphate.;
Pathway: Fructose and mannose metabolism - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Aminosugars metabolism;Metabolism of carbohydrates;Fructose Mannose metabolism;Glycolysis Gluconeogenesis;Metabolism;fructose 2,6-bisphosphate synthesis;Glycolysis;Glucose metabolism;HIF-1-alpha transcription factor network (Consensus)

Recessive Scores

pRec: 0.348

Intolerance Scores

loftool: 0.125
rvis_EVS: -1.4
rvis_percentile_EVS: 4.19

Haploinsufficiency Scores

pHI: 0.207
hipred: Y
hipred_score: 0.756
ghis: 0.518

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.996

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Pfkfb3
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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; cellular phenotype;

Gene ontology

Biological process: fructose metabolic process;fructose 2,6-bisphosphate metabolic process;brain development;dephosphorylation;positive regulation of glycolytic process;carbohydrate phosphorylation
Cellular component: nucleoplasm;cytosol
Molecular function: 6-phosphofructo-2-kinase activity;fructose-2,6-bisphosphate 2-phosphatase activity;ATP binding