Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have be... See more...

Aliases for PFKM Gene

Aliases for PFKM Gene

  • Phosphofructokinase, Muscle 2 3 5
  • ATP-Dependent 6-Phosphofructokinase, Muscle Type 3 4
  • Protein Phosphatase 1, Regulatory Subunit 122 2 3
  • Phosphofructokinase, Polypeptide X 2 3
  • Phosphofructo-1-Kinase Isozyme A 3 4
  • 6-Phosphofructokinase Type A 3 4
  • Phosphohexokinase 3 4
  • EC 2.7.1.11 4 54
  • ATP-PFK 3 4
  • PFK-A 3 4
  • PFKX 3 4
  • 6-Phosphofructokinase, Muscle Type 3
  • 6-Phosphofructo-1-Kinase 3
  • Phosphofructokinase 1 3
  • Phosphofructokinase-M 3
  • PPP1R122 3
  • EC 2.7.1 54
  • PFK-1 3
  • PFK-M 4
  • GSD7 3
  • PFK1 3
  • PFKA 3

External Ids for PFKM Gene

Previous HGNC Symbols for PFKM Gene

  • PFKX

Previous GeneCards Identifiers for PFKM Gene

  • GC12P048525
  • GC12P048412
  • GC12P048229
  • GC12P046802
  • GC12P046788
  • GC12P046785
  • GC12P048501
  • GC12P045531

Summaries for PFKM Gene

Entrez Gene Summary for PFKM Gene

  • Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

GeneCards Summary for PFKM Gene

PFKM (Phosphofructokinase, Muscle) is a Protein Coding gene. Diseases associated with PFKM include Glycogen Storage Disease Vii and Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis. Among its related pathways are AMP-activated Protein Kinase (AMPK) Signaling and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein C-terminus binding. An important paralog of this gene is PFKP.

UniProtKB/Swiss-Prot Summary for PFKM 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 PFKM Gene

Additional gene information for PFKM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFKM Gene

Genomics for PFKM Gene

GeneHancer (GH) Regulatory Elements for PFKM Gene

Promoters and enhancers for PFKM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFKM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFKM gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CUTL1
  • FOXD1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • STAT5A

Genomic Locations for PFKM Gene

Genomic Locations for PFKM Gene
chr12:48,105,139-48,146,404
(GRCh38/hg38)
Size:
41,266 bases
Orientation:
Plus strand
chr12:48,498,922-48,540,187
(GRCh37/hg19)
Size:
41,266 bases
Orientation:
Plus strand

Genomic View for PFKM Gene

Genes around PFKM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PFKM Gene

Proteins for PFKM Gene

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

    Protein Symbol:
    P08237-PFKAM_HUMAN
    Recommended name:
    ATP-dependent 6-phosphofructokinase, muscle type
    Protein Accession:
    P08237
    Secondary Accessions:
    • J3KNX3
    • Q16814
    • Q16815
    • Q6ZTT1

    Protein attributes for PFKM Gene

    Size:
    780 amino acids
    Molecular mass:
    85183 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). The kinetic and regulatory properties of the tetrameric enzyme are dependent on the subunit composition, hence can vary across tissues (Probable). Interacts (via C-terminus) with HK1 (via N-terminal spermatogenic cell-specific region) (By similarity).
    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 PFKM Gene

    Alternative splice isoforms for PFKM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKM Gene

Selected DME Specific Peptides for PFKM Gene

P08237:
  • EVMGRHCG
  • TPACVVSLSGN
  • RVTVLGH
  • QWWLKLRP
  • RKNVLGHMQQGG
  • TPDTPACVV
  • VLTSGGD
  • VGGWTGQGGS
  • GTKRRVFI
  • IIIVAEG
  • EAVMALLE
  • GMNAAVR
  • PTPFDRN
  • IIGGFEA
  • GGFEAYTGGLELMEGRKQ
  • EQISANITK
  • GADAAYI
  • VGSIDND
  • CGYLALV
  • GHVQRGG
  • QLGGTVIGSARCK
  • RGLVLRNEKC
  • DLQKAGKIT
  • KLRGRSFMNNWEVYKLLAH
  • HAHLEHI
  • GITNLCVIGG
  • LGTKRTLP
  • VRLPLMECVQ
  • PFTIRDLQ
  • TLGIGKA
  • DAITTTAQSHQRTFVLEVMGR
  • NYTTDFI
  • FQPVAELK
  • ETMGGYCGYLAT
  • PATVSNNVPGSDFS
  • QRGGTPS
  • REREGRL
  • VGAPAAGMN
  • GGDGSLTGA
  • KFNIQGL
  • EGYQGLVDGG
  • GADTALNTI
  • CDRIKQSA
  • ADWVFIPE

Post-translational modifications for PFKM Gene

Antibody Products

Domains & Families for PFKM Gene

Gene Families for PFKM Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PFKM Gene

GenScript: Design optimal peptide antigens:
  • Phosphohexokinase (K6PF_HUMAN)
  • Phosphofructokinase (P78457_HUMAN)
  • Phosphofructokinase (Q7KYX9_HUMAN)
  • PFKM protein (Q96I60_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08237

UniProtKB/Swiss-Prot:

PFKAM_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 PFKM: view

Function for PFKM Gene

Molecular function for PFKM 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:
Reaction=ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+); Xref=Rhea:RHEA:16109, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:32966, ChEBI:CHEBI:57634, ChEBI:CHEBI:456216; EC=2.7.1.11; Evidence=. ;.
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 muscle,previously assigned to chr 1,fructose metabolism,energy pathway

Enzyme Numbers (IUBMB) for PFKM Gene

Phenotypes From GWAS Catalog for PFKM Gene

Gene Ontology (GO) - Molecular Function for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003872 6-phosphofructokinase activity IEA,ISS --
GO:0005515 protein binding IPI 6444721
GO:0005524 ATP binding IDA 8780720
GO:0008022 protein C-terminus binding IPI 12649290
genes like me logo Genes that share ontologies with PFKM: view
genes like me logo Genes that share phenotypes with PFKM: view

Human Phenotype Ontology for PFKM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PFKM Gene

MGI Knock Outs for PFKM:
  • Pfkm Pfkm<tm1Fbos>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKM

Clone Products

  • Addgene plasmids for PFKM

No data available for Transcription Factor Targets and HOMER Transcription for PFKM Gene

Localization for PFKM Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFKM 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 PFKM gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 25796446
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005945 6-phosphofructokinase complex IDA 6444532
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with PFKM: view

Pathways & Interactions for PFKM Gene

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

UniProtKB/Swiss-Prot P08237-PFKAM_HUMAN

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

Gene Ontology (GO) - Biological Process for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005980 glycogen catabolic process IEA --
GO:0006002 fructose 6-phosphate metabolic process IMP,IEA 6444532
GO:0006007 glucose catabolic process IBA 21873635
GO:0006096 glycolytic process IEA,IMP 6444532
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PFKM: view

No data available for SIGNOR curated interactions for PFKM Gene

Drugs & Compounds for PFKM Gene

(17) Drugs for PFKM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
fructose-6-phosphate Experimental Pharma Target 0
Invert sugar Experimental Pharma Enzyme, substrate 0
Phosphoglycolic acid Experimental Pharma Target 0
CDP Experimental Pharma 0

(12) Additional Compounds for PFKM Gene - From: HMDB and Novoseek

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 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)
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphoric acid
  • Fructose-6-phosphate
  • Neuberg ester
  • Fructose 6-phosphoric acid
643-13-0
genes like me logo Genes that share compounds with PFKM: view

Transcripts for PFKM Gene

mRNA/cDNA for PFKM Gene

(19) REFSEQ mRNAs :
(29) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(32) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKM

Clone Products

  • Addgene plasmids for PFKM

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - -
SP4: - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6:
SP7: - - - - - - -
SP8: - - -
SP9: - -
SP10: - - - - - -
SP11: - - - - - - -
SP12: - - - - - -
SP13: - - - - -
SP14: -
SP15: - - - - - - - - - -
SP16: - - - - - - - - - - -
SP17:

ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^
SP1: - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -

ExUns: 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PFKM Gene

GeneLoc Exon Structure for
PFKM
ECgene alternative splicing isoforms for
PFKM

Expression for PFKM Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFKM Gene

This gene is overexpressed in Muscle - Skeletal (x15.4) and Heart - Left Ventricle (x5.3).

Protein differential expression in normal tissues from HIPED for PFKM Gene

This gene is overexpressed in Tonsil (11.7), Retina (10.7), and Heart (10.7).

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



Protein tissue co-expression partners for PFKM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PFKM Gene:

PFKM

SOURCE GeneReport for Unigene cluster for PFKM Gene:

Hs.75160

Evidence on tissue expression from TISSUES for PFKM Gene

  • Nervous system(5)
  • Muscle(4.8)
  • Heart(3.8)
  • Lung(3.3)
  • Kidney(3)
  • Liver(2.8)
  • Eye(2.5)
  • Blood(2.3)
  • Intestine(2.2)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
Limb:
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PFKM: view

No data available for mRNA Expression by UniProt/SwissProt for PFKM Gene

Orthologs for PFKM Gene

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

Orthologs for PFKM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFKM 33 32
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PFKM 33 32
  • 91.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PFKM 33 32
  • 90.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkm 32
  • 90.3 (n)
mouse
(Mus musculus)
Mammalia Pfkm 17 33 32
  • 90.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PFKM 33 32
  • 75.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKM 33
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkm 32
  • 72.18 (n)
zebrafish
(Danio rerio)
Actinopterygii pfkma 33 32
  • 71.74 (n)
OneToMany
pfkmb 33
  • 69 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10447 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007642 32
  • 61.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pfk 33 34 32
  • 60.91 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H10A.1 32
  • 57.07 (n)
Y71H10A.1b 34
  • 56 (a)
Y71H10A.1a 34
  • 56 (a)
pfk-1 33
  • 53 (a)
ManyToMany
pfk-2 33
  • 41 (a)
ManyToMany
C50F4.2 34
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK2 33
  • 34 (a)
ManyToMany
PFK1 33
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 55 (a)
OneToMany
Species where no ortholog for PFKM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 PFKM Gene

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

Paralogs for PFKM Gene

Paralogs for PFKM Gene

(13) SIMAP similar genes for PFKM Gene using alignment to 23 proteins:

  • K6PF_HUMAN
  • F8VNX2_HUMAN
  • F8VNZ1_HUMAN
  • F8VP00_HUMAN
  • F8VSF5_HUMAN
  • F8VSF7_HUMAN
  • F8VSL1_HUMAN
  • F8VTQ3_HUMAN
  • F8VTT5_HUMAN
  • F8VUB8_HUMAN
  • F8VVE3_HUMAN
  • F8VW30_HUMAN
  • F8VX13_HUMAN
  • F8VYK8_HUMAN
  • F8VZ53_HUMAN
  • F8VZI0_HUMAN
  • F8VZQ1_HUMAN
  • F8W1J8_HUMAN
  • H0YHB8_HUMAN
  • H0YIS9_HUMAN
  • P78457_HUMAN
  • Q7KYX9_HUMAN
  • Q96I60_HUMAN

Pseudogenes.org Pseudogenes for PFKM Gene

genes like me logo Genes that share paralogs with PFKM: view

Variants for PFKM Gene

Sequence variations from dbSNP and Humsavar for PFKM Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1049392 benign, not specified, Glycogen storage disease, type VII, not provided 48,133,403(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs11168427 benign, not specified, Glycogen storage disease, type VII, not provided 48,145,196(+) A/G intron_variant
rs11552507 benign, benign-likely-benign, likely-benign, not specified, Glycogen storage disease, type VII, not provided 48,132,936(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1169383137 Glycogen storage disease 7 (GSD7) [MIM:232800] 48,135,373(+) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs121918193 pathogenic, Glycogen storage disease, type VII, Glycogen storage disease 7 (GSD7) [MIM:232800], Glycogen storage disease 7 (GSD7) [MIM:232800] 48,130,393(+) G/A/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2759898 CNV gain+loss 17122850
esv3629429 CNV gain 21293372
nsv508673 CNV deletion 20534489
nsv558790 CNV gain 21841781
nsv8971 CNV gain+loss 18304495

Variation tolerance for PFKM Gene

Residual Variation Intolerance Score: 5.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.21; 93.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFKM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PFKM Gene

MalaCards: The human disease database

(9) MalaCards diseases for PFKM Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PFKM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PFKAM_HUMAN
  • Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. {ECO:0000269 PubMed:22133655, ECO:0000269 PubMed:24427140, ECO:0000269 PubMed:7513946, ECO:0000269 PubMed:7825568, ECO:0000269 PubMed:8889589}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PFKM

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 PFKM: view

No data available for Genatlas for PFKM Gene

Publications for PFKM Gene

  1. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. (PMID: 7479776) Vasconcelos O … Goldfarb LG (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 23 43 56
  2. Mutations in muscle phosphofructokinase gene. (PMID: 7550225) Raben N … Sherman JB (Human mutation 1995) 3 4 23 56
  3. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. (PMID: 7825568) Raben N … Heinisch J (American journal of human genetics 1995) 3 4 23 56
  4. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. (PMID: 7513946) Tsujino S … DiMauro S (American journal of human genetics 1994) 3 4 23 56
  5. Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. (PMID: 1833270) Yamasaki T … Tarui S (Gene 1991) 3 4 23 56

Products for PFKM Gene

Sources for PFKM Gene