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.

not_specified (56 variants)

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. These statistics are base on transcript: NM_000004567.4. 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						0
missense			56 clinvar			56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	0	0

Loading clinvar variants...

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