PFKFB4

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4, the group of MicroRNA protein coding host genes|6-phosphofructo-2-kinases/fructose-2,6-biphosphatases

Basic information

Region (hg38): 3:48517684-48562015

Links

ENSG00000114268 ∙ NCBI:5210 ∙ OMIM:605320 ∙ HGNC:8875 ∙ Uniprot:Q16877 ∙ 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 PFKFB4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PFKFB4 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			37			37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	0	0

Variants in PFKFB4

This is a list of pathogenic ClinVar variants found in the PFKFB4 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-48519769-A-T		not specified	Uncertain significance (Aug 14, 2023)
3-48522000-G-A		not specified	Uncertain significance (Mar 07, 2023)
3-48522005-G-A		not specified	Uncertain significance (Dec 08, 2023)
3-48522037-C-G		not specified	Uncertain significance (Jun 18, 2024)
3-48523549-G-A		not specified	Uncertain significance (Mar 01, 2025)
3-48523557-T-C		not specified	Uncertain significance (Dec 10, 2024)
3-48523581-T-C		not specified	Uncertain significance (Dec 14, 2024)
3-48523713-C-G		not specified	Uncertain significance (Apr 22, 2022)
3-48523713-C-T		not specified	Uncertain significance (Nov 14, 2024)
3-48523811-T-G		not specified	Uncertain significance (Apr 25, 2022)
3-48535556-C-G		not specified	Uncertain significance (Jun 26, 2023)
3-48535565-C-T		not specified	Uncertain significance (Aug 08, 2022)
3-48535603-A-T		not specified	Uncertain significance (Sep 02, 2024)
3-48535604-C-T		not specified	Uncertain significance (Sep 27, 2022)
3-48536296-C-T		not specified	Uncertain significance (May 17, 2023)
3-48536297-G-A		not specified	Uncertain significance (Oct 30, 2024)
3-48536300-C-T		not specified	Uncertain significance (Dec 08, 2023)
3-48536329-C-T		not specified	Uncertain significance (May 22, 2023)
3-48536357-C-T		not specified	Uncertain significance (Aug 02, 2022)
3-48536386-C-T		not specified	Uncertain significance (Nov 29, 2024)
3-48536405-C-A		not specified	Uncertain significance (Oct 01, 2024)
3-48536420-C-T		not specified	Uncertain significance (Dec 02, 2024)
3-48536444-T-G		not specified	Uncertain significance (Feb 16, 2023)
3-48538538-A-G		not specified	Uncertain significance (Dec 15, 2021)
3-48538540-C-T		not specified	Uncertain significance (Aug 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PFKFB4	protein_coding	protein_coding	ENST00000232375	14	44332

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-9	0.875	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.36	231	297	0.778	0.0000189	3072
Missense in Polyphen		116	135.48	0.85619		1391
Synonymous	0.853	106	118	0.900	0.00000742	906
Loss of Function	1.74	18	27.9	0.645	0.00000134	313

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000274	0.000273
Middle Eastern	0.000111	0.000109
South Asian	0.000265	0.000261
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);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-AKT-mTOR - VitD3 Signalling;Aminosugars metabolism;Metabolism of carbohydrates;Fructose Mannose metabolism;Metabolism;fructose 2,6-bisphosphate synthesis;Glycolysis;Glucose metabolism (Consensus)

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.304
• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.47

Haploinsufficiency Scores

• pHI: 0.117
• hipred: Y
• hipred_score: 0.639
• ghis: 0.611

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.943

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pfkfb4
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; limbs/digits/tail phenotype; skeleton phenotype

Gene ontology

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