Gene Gene information from NCBI Gene database.
Entrez ID 5315
Gene name Pyruvate kinase M1/2
Gene symbol PKM
Synonyms (NCBI Gene)
CTHBPHEL-S-30OIP3PK3PKM2TCBTHBP1p58
Chromosome 15
Chromosome location 15q23
Summary This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyro
miRNA miRNA information provided by mirtarbase database.
149
miRTarBase ID miRNA Experiments Reference
MIRT001816 hsa-miR-133a-3p Immunohistochemistry 18464261
MIRT001815 hsa-miR-133b Immunohistochemistry 18464261
MIRT005520 hsa-miR-326 Luciferase reporter assayqRT-PCRWestern blot 20667897
MIRT005520 hsa-miR-326 Luciferase reporter assayqRT-PCRWestern blot 20667897
MIRT005520 hsa-miR-326 Luciferase reporter assayqRT-PCRWestern blot 20667897
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ZBTB7A Repression 25184678
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0003713 Function Transcription coactivator activity IDA 22056988
GO:0003723 Function RNA binding HDA 22658674
GO:0003729 Function MRNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179050 9021 ENSG00000067225
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14618
Protein name Pyruvate kinase PKM (EC 2.7.1.40) (Cytosolic thyroid hormone-binding protein) (CTHBP) (Opa-interacting protein 3) (OIP-3) (Pyruvate kinase 2/3) (Pyruvate kinase muscle isozyme) (Threonine-protein kinase PKM2) (EC 2.7.11.1) (Thyroid hormone-binding protein
Protein function Catalyzes the final rate-limiting step of glycolysis by mediating the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP (PubMed:15996096, PubMed:1854723, PubMed:20847263). The ratio between the highly active te
PDB 1T5A , 1ZJH , 3BJF , 3BJT , 3G2G , 3GQY , 3GR4 , 3H6O , 3ME3 , 3SRD , 3SRF , 3SRH , 3U2Z , 4B2D , 4FXF , 4FXJ , 4G1N , 4JPG , 4QG6 , 4QG8 , 4QG9 , 4QGC , 4RPP , 4WJ8 , 4YJ5 , 5X0I , 5X1V , 5X1W , 6B6U , 6GG3 , 6GG4 , 6GG5 , 6GG6 , 6JFB , 6NU1 , 6NU5 , 6NUB , 6TTF , 6TTH , 6TTI , 6TTQ , 6V74 , 6V75 , 6V76 , 6WP3 , 6WP4 , 6WP5 , 6WP6 , 7L21 , 8G2E , 8HGF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00224 PK 42 395 Pyruvate kinase, barrel domain Family
PF02887 PK_C 410 528 Pyruvate kinase, alpha/beta domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform M2]: Specifically expressed in proliferating cells, such as embryonic stem cells, embryonic carcinoma cells, as well as cancer cells. {ECO:0000269|PubMed:18191611, ECO:0000269|PubMed:18337823}.; TISSUE SPECIFICITY: [Isoform M1
Sequence
Sequence length 531
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pyruvate metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Glucagon signaling pathway
Type II diabetes mellitus
Human papillomavirus infection
Viral carcinogenesis
Central carbon metabolism in cancer
  Neutrophil degranulation
Glycolysis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22087286, 22912555, 27683215
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26501265, 28489603, 29713182, 30925904, 31570790
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 24569090
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 28183315
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30578620, 35987203, 37454217 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive Anaplastic Lymphoma BEFREE 28414323
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 25880801
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 29636835 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26234680, 26500118, 29335522, 31311829, 31819190
★☆☆☆☆
Found in Text Mining only