| Variant ID | 14918 |
|---|---|
| Entrez Gene ID | 5209 |
| Gene | PFKFB3 (GeneCards) |
| Location | hg19 10:6287536-6287536
hg38 10:6245573-6245573 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.6287536 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6023 |
| CADD Raw score (version 1.3) | -0.326176 (Deleterious) |
| FATHMM raw prediction score | 0.04899 (Tolerated) |
| Deleterious probability by DeFine | 0.1103 (Neutral) |
| Entrez Gene ID | 5209 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PFKFB3 (GeneCards) |
| Number of variants in PFKFB3 in this database | 2 (view all the variants) |
| Full name | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
| Band | 10p15.1 |
| Other IDs | Vega: OTTHUMG00000017621 OMIM: 605319 HGNC: HGNC:8874 Ensembl: ENSG00000170525 |
| Other names | PFK2, IPFK2, iPFK-2 |
| Summary | The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |