PKLR Gene (Protein Coding)

Pyruvate Kinase L/R

GC01M155289
GIFtS:
47
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants e... See more...

Aliases for PKLR Gene

Aliases for PKLR Gene

  • Pyruvate Kinase L/R 2 3 5
  • Pyruvate Kinase, Liver And RBC 2 3
  • Red Cell/Liver Pyruvate Kinase 3 4
  • R-Type/L-Type Pyruvate Kinase 3 4
  • Pyruvate Kinase Isozymes L/R 3 4
  • Pyruvate Kinase PKLR 3 4
  • Pyruvate Kinase 1 3 4
  • EC 2.7.1.40 4 51
  • PK1 3 4
  • PKL 3 4
  • Pyruvate Kinase, Liver And Blood Cell 3
  • Pyruvate Kinase Isozymes R/L 3
  • Pyruvate Kinase Isozyme R/L 3
  • Pyruvate Kinase Type L 3
  • PKRL 3
  • PKLR 5
  • RPK 3

External Ids for PKLR Gene

Previous GeneCards Identifiers for PKLR Gene

  • GC01M153117
  • GC01M151000
  • GC01M152037
  • GC01M152476
  • GC01M152072
  • GC01M153526
  • GC01M155259
  • GC01M126621

Summaries for PKLR Gene

Entrez Gene Summary for PKLR Gene

  • The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PKLR Gene

PKLR (Pyruvate Kinase L/R) is a Protein Coding gene. Diseases associated with PKLR include Pyruvate Kinase Deficiency Of Red Cells and Adenosine Triphosphate, Elevated, Of Erythrocytes. Among its related pathways are Glucose metabolism and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and pyruvate kinase activity. An important paralog of this gene is PKM.

UniProtKB/Swiss-Prot Summary for PKLR Gene

Gene Wiki entry for PKLR Gene

Additional gene information for PKLR Gene

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

Genomics for PKLR Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PKLR 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
GH01J155299 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 607.4 +0.4 350 2.2 HNRNPL GATAD2A REST TFE3 ZNF512 LEF1 IKZF1 RCOR2 MTA2 RXRB PKLR GBA lnc-FDPS-3 CLK2
GH01J155240 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +58.5 58495 5.5 ZNF221 ARHGAP35 SP1 CREB1 GATAD2A TEAD4 PRDM10 REST ZNF629 TFE3 GBA lnc-FAM189B-2 KHDC4 GON4L ENSG00000271267 CLK2 MSTO1 MSTO2P RUSC1-AS1 THBS3
GH01J155272 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.1 +28.2 28237 2.8 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 LEF1 POLR2A ZNF692 LARP7 lnc-HCN3-2 CLK2 GBA PYGO2 PKLR LOC101928120 FDPS RUSC1 RUSC1-AS1 MIR555
GH01J155513 Enhancer 0.9 FANTOM5 Ensembl ENCODE 12.2 -213.6 -213563 4 CEBPB FOXA2 ZBTB40 ZNF146 CTCF KDM1A ZNF362 ZNF121 RUSC1 PKLR RUSC1-AS1 RIT1 KRTCAP2 CLK2 SCAMP3 GBA lnc-YY1AP1-6 ASH1L
GH01J155698 Enhancer 1 ENCODE dbSUPER 10.5 -397.6 -397573 1.3 IKZF1 ZNF24 MTA1 KAT8 DPF2 HDAC1 SOX6 CEBPA TCF12 HMBOX1 PKLR DAP3 YY1AP1 ENSG00000227673 GON4L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKLR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKLR

Top Transcription factor binding sites by QIAGEN in the PKLR gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • SEF-1 (1)
  • YY1

Genomic Locations for PKLR Gene

Genomic Locations for PKLR Gene
chr1:155,289,293-155,301,438
(GRCh38/hg38)
Size:
12,146 bases
Orientation:
Minus strand
chr1:155,259,084-155,271,225
(GRCh37/hg19)
Size:
12,142 bases
Orientation:
Minus strand

Genomic View for PKLR Gene

Genes around PKLR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PKLR Gene

Proteins for PKLR Gene

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

    Protein Symbol:
    P30613-KPYR_HUMAN
    Recommended name:
    Pyruvate kinase PKLR
    Protein Accession:
    P30613
    Secondary Accessions:
    • O75758
    • P11973

    Protein attributes for PKLR Gene

    Size:
    574 amino acids
    Molecular mass:
    61830 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=BAA02515.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal tissues.

    Three dimensional structures from OCA and Proteopedia for PKLR Gene

    Alternative splice isoforms for PKLR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKLR Gene

Protein Expression for PKLR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PKLR Gene

P30613:
  • AAMADTFLEH
  • EIPAEKV
  • GPASRSV
  • IAREAEAA
  • KGVNLPG
  • VANAVLDG
  • IKIISKIE
  • DDGLISL
  • SDGIMVARGD
  • MVARGDLG
  • ATQMLESMI
  • PRPTRAE
  • NAVLDGAD
  • LDTKGPEIR
  • RLNFSHG
  • MLSGETA
  • TGWRPGSG
  • LDIDSEP
  • NFSHGSHEYH

Post-translational modifications for PKLR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKLR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PKLR Gene

Gene Families for PKLR Gene

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

Protein Domains for PKLR Gene

InterPro:
Blocks:
  • Pyruvate kinase
ProtoNet:

Suggested Antigen Peptide Sequences for PKLR Gene

GenScript: Design optimal peptide antigens:
  • Pyruvate kinase (B1AVT1_HUMAN)
  • Pyruvate kinase (B1AVT2_HUMAN)
  • Pyruvate kinase (E7ESY9_HUMAN)
  • Red cell/liver pyruvate kinase (KPYR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30613

UniProtKB/Swiss-Prot:

KPYR_HUMAN :
  • Belongs to the pyruvate kinase family.
Family:
  • Belongs to the pyruvate kinase family.
genes like me logo Genes that share domains with PKLR: view

Function for PKLR Gene

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Molecular function for PKLR Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in glycolysis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + pyruvate = ADP + H(+) + phosphoenolpyruvate; Xref=Rhea:RHEA:18157, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58702, ChEBI:CHEBI:456216; EC=2.7.1.40;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by fructose 1,6-bisphosphate.
GENATLAS Biochemistry:
pyruvate kinase,homotetramer of 50.60kDa subunit,with two forms,one liver specific,the other erythrocyte specific,transcribed from a distinct promoter,glycolysis,energy pathway,generating ATP from ADP

Enzyme Numbers (IUBMB) for PKLR Gene

Phenotypes From GWAS Catalog for PKLR Gene

Gene Ontology (GO) - Molecular Function for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004743 pyruvate kinase activity IEA,NAS 1445295
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PKLR: view
genes like me logo Genes that share phenotypes with PKLR: view

Human Phenotype Ontology for PKLR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PKLR Gene

miRTarBase miRNAs that target PKLR

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for PKLR

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PKLR Gene

Localization for PKLR Gene

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 PKLR gene
Compartment Confidence
extracellular 4
cytosol 4
mitochondrion 3
plasma membrane 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PKLR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PKLR Gene

Pathways & Interactions for PKLR Gene

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

Pathways by source for PKLR Gene

1 PharmGKB pathway for PKLR Gene
2 GeneGo (Thomson Reuters) pathways for PKLR Gene
  • Glycolysis and gluconeogenesis (short map)
  • G-protein signaling G-Protein alpha-s signaling cascades

UniProtKB/Swiss-Prot P30613-KPYR_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.

Gene Ontology (GO) - Biological Process for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006096 glycolytic process IEA,IBA 21873635
GO:0006754 ATP biosynthetic process IEA --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with PKLR: view

No data available for SIGNOR curated interactions for PKLR Gene

Drugs & Compounds for PKLR Gene

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  1. Drug

(21) Drugs for PKLR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved, Investigational Nutra Target 0
Acyclovir Approved Pharma Enzyme, substrate 117
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium Approved, Experimental Pharma 0

(11) Additional Compounds for PKLR 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
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
 2793-06-8
dGDP
  • 2'-Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
  • 2'-Deoxyguanosine 5'-diphosphoric acid
  • Deoxyguanosine diphosphoric acid
  • 2'-Deoxy-GDP
 3493-09-2
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
 86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
 132-06-9
genes like me logo Genes that share compounds with PKLR: view

Transcripts for PKLR Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PKLR Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 PKLR

Clone Products

  • Addgene plasmids for PKLR

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

No ASD Table

Relevant External Links for PKLR Gene

GeneLoc Exon Structure for
PKLR

Expression for PKLR Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for PKLR Gene
mRNA expression by GTEx for PKLR GenemRNA expression by BioGPS for PKLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x29.7) and Kidney - Cortex (x12.6).

Protein differential expression in normal tissues from HIPED for PKLR Gene

This gene is overexpressed in Liver, secretome (41.8) and Liver (8.9).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKLR

SOURCE GeneReport for Unigene cluster for PKLR Gene:

Hs.95990

Evidence on tissue expression from TISSUES for PKLR Gene

  • Liver(4.8)
  • Pancreas(4.4)
  • Kidney(3.5)
  • Blood(2.7)
  • Bone marrow(2.4)
  • Intestine(2.3)
  • Muscle(2.2)
  • Nervous system(2.2)
  • Heart(2.1)
  • Skin(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
Pelvis:
  • placenta
  • uterus
General:
  • blood
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PKLR: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PKLR Gene

Orthologs for PKLR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PKLR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PKLR 30 31
  • 99.75 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PKLR 30 31
  • 90.35 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PKLR 30 31
  • 89.43 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pklr 30
  • 87.06 (n)
Mouse
(Mus musculus)
 Mammalia Pklr 30 17 31
  • 86.35 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PKLR 31
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PKLR 31
  • 49 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii pklr 30
  • 67.75 (n)
CABZ01066502.1 31
  • 60 (a)
 OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta PyK 31
  • 58 (a)
 ManyToMany
CG2964 31
  • 41 (a)
 ManyToMany
CG7069 31
  • 27 (a)
 ManyToMany
CG7362 31
  • 22 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea pyk-2 31
  • 55 (a)
 ManyToMany
pyk-1 31
  • 35 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PYK2 30 31 33
  • 52.96 (n)
 ManyToMany
CDC19 31
  • 49 (a)
 ManyToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G04050 30
  • 52.05 (n)
Soybean
(Glycine max)
 eudicotyledons Gma.4073 30
Rice
(Oryza sativa)
 Liliopsida Os.7908 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.21113 30
Corn
(Zea mays)
 Liliopsida Zm.7002 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 63 (a)
 OneToMany
Species where no ortholog for PKLR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)

Evolution for PKLR Gene

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

Paralogs for PKLR Gene

Paralogs for PKLR Gene

(2) SIMAP similar genes for PKLR Gene using alignment to 2 proteins:

  • KPYR_HUMAN
  • F8W6W2_HUMAN
genes like me logo Genes that share paralogs with PKLR: view

Variants for PKLR Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKLR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
724780 Likely Benign: not provided 155,294,358(-) G/A SYNONYMOUS_VARIANT
746007 Likely Benign: not provided 155,290,684(-) G/A INTRON_VARIANT
767707 Conflicting Interpretations: Pyruvate kinase deficiency of red cells; not specified; not provided 155,294,618(-) C/T MISSENSE_VARIANT
801556 Uncertain Significance: Pyruvate kinase deficiency of red cells 155,293,395(-) A/G INTRON_VARIANT
806233 Uncertain Significance: not provided 155,291,767(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PKLR Gene

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

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv23319 CNV gain 19812545
esv2758971 CNV gain 17122850
esv33869 CNV loss 17666407
nsv3032 CNV insertion 18451855
nsv436027 CNV insertion 17901297
nsv831636 CNV loss 17160897
nsv952214 CNV deletion 24416366

Variation tolerance for PKLR Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKLR Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PKLR Gene

MalaCards: The human disease database

(18) MalaCards diseases for PKLR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyruvate kinase deficiency of red cells
  • pkd
adenosine triphosphate, elevated, of erythrocytes
  • pyruvate kinase hyperactivity
hemolytic anemia
  • anemia hemolytic
congenital nonspherocytic hemolytic anemia
  • congenital nonspherocytic hemolytic anaemia
congenital hemolytic anemia
  • congenital hemolytic anaemia
- elite association - COSMIC cancer census association via MalaCards
Search PKLR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KPYR_HUMAN
  • Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. {ECO:0000269 PubMed:9090535}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. {ECO:0000269 PubMed:11328279, ECO:0000269 PubMed:11960989, ECO:0000269 PubMed:1536957, ECO:0000269 PubMed:1896471, ECO:0000269 PubMed:19085939, ECO:0000269 PubMed:2018831, ECO:0000269 PubMed:21794208, ECO:0000269 PubMed:7706479, ECO:0000269 PubMed:8161798, ECO:0000269 PubMed:8180378, ECO:0000269 PubMed:8476433, ECO:0000269 PubMed:8481523, ECO:0000269 PubMed:8483951, ECO:0000269 PubMed:9482576, ECO:0000269 PubMed:9827908, ECO:0000269 PubMed:9886305, ECO:0000269 Ref.24}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PKLR Gene

hemolytic anemia

Additional Disease Information for PKLR

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

Publications for PKLR Gene

  1. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. (PMID: 19085939) van Wijk R … van Solinge WW (Human mutation 2009) 3 4 23
  2. Type 2 diabetes susceptibility genes on chromosome 1q21-24. (PMID: 18269685) Hasstedt SJ … Elbein SC (Annals of human genetics 2008) 3 23 41
  3. Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits. (PMID: 19111066) Andreasen CH … Hansen T (BMC medical genetics 2008) 3 23 41
  4. Pyruvate kinase deficient hemolytic anemia in the Northern Irish population. (PMID: 17574881) Percy MJ … McMullin MF (Blood cells, molecules & diseases 2007) 3 23 26
  5. Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. (PMID: 12196482) Wang H … Elbein SC (Diabetes 2002) 3 23 41

ExternalLinks

View latest publications for PKLR gene in Mastermind

Products for PKLR Gene

  • Addgene plasmids for PKLR

Sources for PKLR Gene