PFKFB2

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

Basic information

Region (hg38): 1:207034366-207081024

Links

ENSG00000123836

∙ NCBI:5208 ∙ OMIM:171835 ∙ HGNC:8873 ∙ Uniprot:O60825 ∙ 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 PFKFB2 gene.

not_specified (51 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PFKFB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006212.2. 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						0
missense			50 clinvar	1 clinvar		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PFKFB2	protein_coding	protein_coding	ENST00000367080	14	31569

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.39e-7	0.995	125681	0	67	125748	0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.45	183	303	0.604	0.0000180	3322
Missense in Polyphen		81	176.31	0.45943		1853
Synonymous	0.0105	110	110	0.999	0.00000637	944
Loss of Function	2.54	16	31.3	0.510	0.00000169	353

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.000163	0.000163
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.000330	0.000325
Middle Eastern	0.000163	0.000163
South Asian	0.000359	0.000359
Other	0.000163	0.000163

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);Thyroid hormone signaling pathway - Homo sapiens (human);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 (Consensus)

Recessive Scores

pRec: 0.173

Intolerance Scores

loftool: 0.188
rvis_EVS: -0.67
rvis_percentile_EVS: 15.76

Haploinsufficiency Scores

pHI: 0.230
hipred: Y
hipred_score: 0.621
ghis: 0.502

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.961

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Pfkfb2
Phenotype: immune system phenotype; vision/eye phenotype; pigmentation phenotype; hematopoietic system phenotype; 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);

Gene ontology

Biological process: fructose metabolic process;fructose 2,6-bisphosphate metabolic process;glucose catabolic process;lactate metabolic process;glycolytic process;response to glucose;dephosphorylation;positive regulation of insulin secretion;positive regulation of glucokinase activity;positive regulation of glycolytic process;carbohydrate phosphorylation
Cellular component: nucleus;nucleoplasm;cytosol
Molecular function: 6-phosphofructo-2-kinase activity;fructose-2,6-bisphosphate 2-phosphatase activity;protein binding;ATP binding;protein kinase binding