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          • Home
          • › Search Tool
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          • › Hs02566463_cn
          See other PFKFB2 CNV Assays ›
          Gene Symbol
          PFKFB2
          Assay Reference Genome
          Location

          Chr.1:207045725 on build GRCh38
          Cytoband
          Assay ID Hs02566463_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          5208

          Gene Name:

          6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

          Gene Aliases:

          PFK-2/FBPase-2

          Location:

          Chr.1:207034416-207081027 on Build GRCh38

          Assay Gene Location:

          Within Intron 3
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PFKFB2 XM_047422547.1 XP_047278503.1
          XM_047422548.1 XP_047278504.1
          AK302315.1 BAG63653.1

          Target Gene Details

          Entrez Gene ID:

          55432

          Gene Name:

          YOD1 deubiquitinase

          Gene Aliases:

          DUBA-8, DUBA8, HIN-7, OTUD2, PRO0907

          Location:

          Chr.1:207043849-207053116 on Build GRCh38

          Assay Gene Location:

          Within Exon 4
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          YOD1 NM_001276320.2 4 4551 NP_001263249.1
          NM_018566.4 2 4520 NP_061036.3
          XM_047424447.1 4 4369 XP_047280403.1
          AL833081.2 2 4321 CAD89975.1
          BC137166.1 2 4381 AAI37167.1
          BC137167.1 2 4381 AAI37168.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv832426 Chr.1:206962184 - 207129471 on Build GRCh38 Gain PFKFB2 C1orf116 C4BPA FCAMR C4BPB YOD1

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          More Information


          Additional Information:

          For this assay, SNP(s) [rs141180301] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

          Set Membership:

          Intragenic Exonic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          fructose metabolic process
          fructose 2,6-bisphosphate metabolic process
          glucose catabolic process
          lactate metabolic process
          gluconeogenesis
          glycolytic process
          response to glucose
          positive regulation of insulin secretion
          carbohydrate phosphorylation
          proteolysis
          response to unfolded protein
          macroautophagy
          endoplasmic reticulum unfolded protein response
          protein K29-linked deubiquitination
          protein K11-linked deubiquitination
          ERAD pathway
          protein K63-linked deubiquitination
          protein K48-linked deubiquitination
          negative regulation of retrograde protein transport, ER to cytosol
          protein K27-linked deubiquitination
          protein K33-linked deubiquitination
          nucleotide binding
          catalytic activity
          6-phosphofructo-2-kinase activity
          fructose-2,6-bisphosphate 2-phosphatase activity
          protein binding
          ATP binding
          kinase activity
          transferase activity
          hydrolase activity
          kinase binding
          protein kinase binding
          thiol-dependent ubiquitin-specific protease activity
          peptidase activity
          cysteine-type peptidase activity
          zinc ion binding
          ubiquitin protein ligase binding
          metal ion binding
          Lys63-specific deubiquitinase activity
          ubiquitinyl hydrolase activity
          Lys48-specific deubiquitinase activity

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