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Aliases for PFKP Gene

Aliases for PFKP Gene

  • Phosphofructokinase, Platelet 2 3 5
  • Phosphofructo-1-Kinase Isozyme C 3 4
  • 6-Phosphofructokinase Type C 3 4
  • Phosphohexokinase 3 4
  • ATP-PFK 3 4
  • PFK-C 3 4
  • PFK-P 3 4
  • PFKF 3 4
  • ATP-Dependent 6-Phosphofructokinase, Platelet Type 3
  • 6-Phosphofructokinase, Platelet Type 3
  • Phosphofructokinase, Platelet Type 2
  • Phosphofructokinase 1 3
  • EC 2.7.1.11 4

External Ids for PFKP Gene

Previous GeneCards Identifiers for PFKP Gene

  • GC10P003157
  • GC10P003069
  • GC10P003063
  • GC10P003099
  • GC10P003045
  • GC10P003109

Summaries for PFKP Gene

Entrez Gene Summary for PFKP Gene

  • This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for PFKP Gene

PFKP (Phosphofructokinase, Platelet) is a Protein Coding gene. Diseases associated with PFKP include Glycogen Storage Disease Vii and Miliary Tuberculosis. Among its related pathways are Akt Signaling and Cori Cycle. Gene Ontology (GO) annotations related to this gene include 6-phosphofructokinase activity. An important paralog of this gene is PFKM.

UniProtKB/Swiss-Prot for PFKP Gene

  • Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

Gene Wiki entry for PFKP Gene

Additional gene information for PFKP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKP Gene

Genomics for PFKP Gene

GeneHancer (GH) Regulatory Elements for PFKP Gene

Promoters and enhancers for PFKP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J003067 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 659.4 +2.3 2292 3.3 HDGF ATF1 SMAD1 SIN3A GLI4 ZBTB7B YY1 ZNF121 POLR2B ZNF766 PFKP LOC101927824 ENSG00000236892 ENSG00000237500 LOC105376351 LINC00701 LOC105376365 ENSG00000226694 ENSG00000227101 LOC105376348
GH10J003066 Enhancer 0.4 ENCODE 659.5 +0.2 210 0.5 NRF1 BACH1 EZH2 PFKP ENSG00000273001 LOC101927824
GH10J003089 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.4 +27.5 27546 8.1 PKNOX1 SMAD1 FOXA2 ARNT NEUROD1 SIN3A ZNF766 E2F8 FOS JUNB GC10P003095 PFKP PITRM1 PITRM1-AS1 LOC101927824
GH10J003102 Enhancer 1 FANTOM5 ENCODE dbSUPER 13.9 +36.8 36834 0.9 SP1 JUND RXRA HNF4G HNF4A ZFX GC10P003101 PFKP PITRM1-AS1 PITRM1 GC10P003095 PIR36518
GH10J003106 Enhancer 1 Ensembl ENCODE dbSUPER 11.3 +41.5 41510 2.1 RXRA USF2 SIN3A MNT SP1 JUND ATF3 HNF4A FOS FOSL2 PFKP PITRM1 GC10P003101 GC10P003095 PIR36518
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PFKP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFKP gene promoter:

Genomic Locations for PFKP Gene

Genomic Locations for PFKP Gene
chr10:3,066,333-3,137,712
(GRCh38/hg38)
Size:
71,380 bases
Orientation:
Plus strand
chr10:3,108,525-3,179,904
(GRCh37/hg19)

Genomic View for PFKP Gene

Genes around PFKP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKP Gene

Proteins for PFKP Gene

  • Protein details for PFKP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01813-PFKAP_HUMAN
    Recommended name:
    ATP-dependent 6-phosphofructokinase, platelet type
    Protein Accession:
    Q01813
    Secondary Accessions:
    • B3KS15
    • Q5VSR7
    • Q5VSR8

    Protein attributes for PFKP Gene

    Size:
    784 amino acids
    Molecular mass:
    85596 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homo- and heterotetramers (By similarity). Phosphofructokinase (PFK) enzyme functions as a tetramer composed of different combinations of 3 types of subunits, called PFKM (where M stands for Muscle), PFKL (Liver) and PFKP (Platelet). The composition of the PFK tetramer differs according to the tissue type it is present in. In muscles, it is composed of 4 PFKM subunits (also called M4). In the liver, the predominant form is a tetramer of PFKL subunits (L4). In erythrocytes, both PFKM and PFKL subunits randomly tetramerize to form M4, L4 and other combinations (ML3, M2L2, M3L). In platelets, brain and fibroblasts, PFK contains a higher proportion of PFKP subunits. The kinetic and regulatory properties of the tetrameric enzyme are dependent on the subunit composition, hence can vary across tissues (Probable).
    Miscellaneous:
    • In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.

    Three dimensional structures from OCA and Proteopedia for PFKP Gene

    Alternative splice isoforms for PFKP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKP Gene

Post-translational modifications for PFKP Gene

  • GlcNAcylation decreases enzyme activity.
  • Glycosylation at isoforms=2540
  • Ubiquitination at Lys765, Lys759, isoforms=2688, Lys666, Lys486, Lys480, isoforms=2459, Lys408, Lys400, isoforms=2395, Lys289, Lys139, isoforms=2109, isoforms=25, and Lys15
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PFKP Gene

Domains & Families for PFKP Gene

Gene Families for PFKP Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q01813

UniProtKB/Swiss-Prot:

PFKAP_HUMAN :
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
Domain:
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
genes like me logo Genes that share domains with PFKP: view

Function for PFKP Gene

Molecular function for PFKP Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate.
GENATLAS Biochemistry:
6-phosphofructo-1-kinase,expressed in platelet,fructose metabolism,energy pathway

Enzyme Numbers (IUBMB) for PFKP Gene

Phenotypes From GWAS Catalog for PFKP Gene

Gene Ontology (GO) - Molecular Function for PFKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003872 6-phosphofructokinase activity TAS,IEA 1834056
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PFKP: view
genes like me logo Genes that share phenotypes with PFKP: view

Animal Model Products

Clone Products

  • Addgene plasmids for PFKP

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFKP Gene

Localization for PFKP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFKP Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFKP gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PFKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IDA 25468996
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with PFKP: view

Pathways & Interactions for PFKP Gene

genes like me logo Genes that share pathways with PFKP: view

UniProtKB/Swiss-Prot Q01813-PFKAP_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.

Gene Ontology (GO) - Biological Process for PFKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006002 fructose 6-phosphate metabolic process IEA --
GO:0006096 glycolytic process IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0061615 glycolytic process through fructose-6-phosphate IEA --
genes like me logo Genes that share ontologies with PFKP: view

No data available for SIGNOR curated interactions for PFKP Gene

Drugs & Compounds for PFKP Gene

(10) Drugs for PFKP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
CDP Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0
Fosfructose Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0

(8) Additional Compounds for PFKP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
beta-D-Fructose 1,6-bisphosphate
  • 1,6-Di-O-phosphono-alpha-D-fructofuranose
  • ALPHA FRUCTOSE 1,6-diphosphATE
  • 1,6-Di-O-phosphono-a-D-fructofuranose
  • 1,6-Di-O-phosphono-α-D-fructofuranose
  • Fructose 1,6-bisphosphoric acid
34693-15-7
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
D-Tagatose 1,6-bisphosphate
  • 1,6-Di-O-phosphono-D-tagatofuranose
  • D-Tagatose 1,6-bisphosphoric acid
  • D-Tagatofuranose 1,6-bisphosphate
D-Tagatose 6-phosphate
  • 6-O-phosphono-D-Tagatofuranose
  • D-Tagatofuranose 6-(dihydrogen phosphate)
genes like me logo Genes that share compounds with PFKP: view

Transcripts for PFKP Gene

Unigene Clusters for PFKP Gene

Phosphofructokinase, platelet:
Representative Sequences:

Clone Products

  • Addgene plasmids for PFKP

Alternative Splicing Database (ASD) splice patterns (SP) for PFKP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - -
SP2: - - - - - - - - -
SP3:
SP4: - - - -
SP5:
SP6:
SP7: -
SP8:

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for PFKP Gene

GeneLoc Exon Structure for
PFKP
ECgene alternative splicing isoforms for
PFKP

Expression for PFKP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PFKP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PFKP Gene

This gene is overexpressed in Fetal heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PFKP Gene



Protein tissue co-expression partners for PFKP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PFKP Gene:

PFKP

SOURCE GeneReport for Unigene cluster for PFKP Gene:

Hs.26010

Evidence on tissue expression from TISSUES for PFKP Gene

  • Nervous system(5)
  • Pancreas(4.5)
  • Eye(3.5)
  • Lung(3.4)
  • Kidney(3.2)
  • Liver(3)
  • Intestine(2.8)
  • Muscle(2.8)
  • Blood(2.6)
  • Heart(2.6)
  • Skin(2.6)
genes like me logo Genes that share expression patterns with PFKP: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKP Gene

Orthologs for PFKP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFKP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFKP 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKP 34 33
  • 85.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PFKP 34 33
  • 84.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkp 33
  • 83.12 (n)
mouse
(Mus musculus)
Mammalia Pfkp 16 34 33
  • 82.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFKP 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFKP 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFKP 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKP 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkp 33
  • 73.88 (n)
MGC75635 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68847 33
zebrafish
(Danio rerio)
Actinopterygii pfkpa 34
  • 78 (a)
OneToMany
pfkpb 34 33
  • 72.72 (n)
OneToMany
Dr.12547 33
fruit fly
(Drosophila melanogaster)
Insecta Pfk 34 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H10A.1b 35
  • 57 (a)
Y71H10A.1a 35
  • 56 (a)
pfk-1 34
  • 54 (a)
ManyToMany
pfk-2 34
  • 41 (a)
ManyToMany
C50F4.2 35
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL208W 33
  • 52.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05544g 33
  • 50.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK1 34 33
  • 49.46 (n)
ManyToMany
PFK2 34
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
Cin.3271 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3271 33
Species where no ortholog for PFKP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFKP Gene

ENSEMBL:
Gene Tree for PFKP (if available)
TreeFam:
Gene Tree for PFKP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PFKP: view image

Paralogs for PFKP Gene

Paralogs for PFKP Gene

(6) SIMAP similar genes for PFKP Gene using alignment to 9 proteins:

  • K6PP_HUMAN
  • B1APP6_HUMAN
  • B1APP8_HUMAN
  • H0Y3Y3_HUMAN
  • H0Y757_HUMAN
  • Q49A78_HUMAN
  • Q5VSR5_HUMAN
  • V9GY25_HUMAN
  • V9GYV7_HUMAN
genes like me logo Genes that share paralogs with PFKP: view

Variants for PFKP Gene

Sequence variations from dbSNP and Humsavar for PFKP Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs869025258 likely-benign, Anophthalmia - microphthalmia 3,105,466(+) GG/GGG coding_sequence_variant, frameshift
rs1000093095 -- 3,118,258(+) A/G intron_variant
rs1000187549 -- 3,100,310(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000189029 -- 3,070,958(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000229266 -- 3,125,473(+) G/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PFKP Gene

Variant ID Type Subtype PubMed ID
dgv343n106 CNV deletion 24896259
dgv63n27 CNV gain 19166990
dgv660n100 CNV gain 25217958
dgv85e201 CNV deletion 23290073
dgv86e201 CNV deletion 23290073
dgv87e201 CNV deletion 23290073
dgv932n54 CNV gain 21841781
dgv933n54 CNV gain 21841781
dgv935n54 CNV loss 21841781
dgv936n54 CNV gain 21841781
dgv937n54 CNV loss 21841781
dgv938n54 CNV gain+loss 21841781
dgv939n54 CNV gain 21841781
dgv940n54 CNV loss 21841781
dgv941n54 CNV gain 21841781
dgv942n54 CNV loss 21841781
dgv943n54 CNV loss 21841781
esv1312745 CNV deletion 17803354
esv2403236 CNV deletion 18987734
esv26266 CNV gain+loss 19812545
esv2674301 CNV deletion 23128226
esv2730995 CNV deletion 23290073
esv2731128 CNV deletion 23290073
esv2731140 CNV deletion 23290073
esv2731151 CNV deletion 23290073
esv2731162 CNV deletion 23290073
esv2731173 CNV deletion 23290073
esv2731262 CNV deletion 23290073
esv2731273 CNV deletion 23290073
esv2750891 CNV loss 17911159
esv2759726 CNV gain 17122850
esv2760124 CNV gain 21179565
esv28525 CNV loss 19812545
esv3447223 CNV duplication 20981092
esv34832 CNV gain 17911159
esv3545772 CNV deletion 23714750
esv3545773 CNV deletion 23714750
esv3578589 CNV loss 25503493
esv3622141 CNV gain 21293372
esv3622161 CNV loss 21293372
esv3622163 CNV loss 21293372
esv3622164 CNV loss 21293372
esv3622165 CNV gain 21293372
esv3622166 CNV loss 21293372
nsv1039231 CNV loss 25217958
nsv1044106 CNV loss 25217958
nsv1069005 CNV deletion 25765185
nsv1069006 CNV deletion 25765185
nsv1069007 CNV deletion 25765185
nsv1118157 CNV deletion 24896259
nsv1121450 CNV deletion 24896259
nsv1135767 CNV deletion 24896259
nsv1140926 CNV deletion 24896259
nsv1151706 CNV deletion 26484159
nsv428229 CNV gain 18775914
nsv470912 CNV gain 18288195
nsv470913 CNV loss 18288195
nsv507530 OTHER sequence alteration 20534489
nsv516811 CNV loss 19592680
nsv516917 CNV loss 19592680
nsv517630 CNV gain+loss 19592680
nsv525229 CNV loss 19592680
nsv549810 CNV gain 21841781
nsv549814 CNV loss 21841781
nsv549815 CNV gain 21841781
nsv549816 CNV gain 21841781
nsv549817 CNV gain 21841781
nsv549818 CNV gain 21841781
nsv549819 CNV loss 21841781
nsv549827 CNV gain 21841781
nsv549848 CNV gain+loss 21841781
nsv549850 CNV loss 21841781
nsv549852 CNV loss 21841781
nsv825215 CNV gain 20364138
nsv8595 CNV gain 18304495
nsv8596 CNV loss 18304495
nsv951237 CNV deletion 24416366
nsv951238 CNV deletion 24416366
nsv956151 CNV deletion 24416366
nsv958313 CNV deletion 24416366

Variation tolerance for PFKP Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFKP Gene

Human Gene Mutation Database (HGMD)
PFKP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFKP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKP Gene

Disorders for PFKP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PFKP Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
glycogen storage disease vii
  • gsd7
miliary tuberculosis
  • acute miliary tuberculosis
- elite association - COSMIC cancer census association via MalaCards
Search PFKP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PFKP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PFKP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFKP Gene

Publications for PFKP Gene

  1. Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet. (PMID: 8117307) Eto K … Kadowaki T (Biochemical and biophysical research communications 1994) 3 4 22 58
  2. Isolation and sequence of a cDNA encoding human platelet phosphofructokinase. (PMID: 1834056) Simpson CJ … Fothergill-Gilmore LA (Biochemical and biophysical research communications 1991) 3 4 22 58
  3. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 44 58
  4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan AR … Mitchell EA (BMC medical genetics 2010) 3 44 58
  5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) Ruaño G … Hanks S (Clinica chimica acta; international journal of clinical chemistry 2009) 3 44 58

Products for PFKP Gene

Sources for PFKP Gene

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