PGM2L1 Gene
Phosphoglucomutase 2 Like 1
Gene Information Card
| Symbol | PGM2L1 |
|---|---|
| Full Name | phosphoglucomutase 2 like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 283209 ncbi.nlm.nih.gov/gene/283209 |
| Ensembl ID | ENSG00000165416 |
| UniProt ID | Q6PCE3 |
| OMIM ID | 616846 |
| HGNC ID | 28309 |
| Aliases | FLJ22662, MGC138290 |
Description
PGM2L1 encodes a member of the phosphoglucomutase family, which catalyzes the interconversion of glucose-1-phosphate and glucose-6-phosphate. This enzyme is involved in glycogen metabolism and glucose homeostasis. The protein is localized to the cytoplasm and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XIV (suspected) | Impaired glucose-1-phosphate to glucose-6-phosphate conversion leading to glycogen accumulation | Limited; case reports and functional studies suggest association (PMID: 25434006) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 6.2 | Low |
| Brain | 4.1 | Low |
| Skeletal Muscle | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 5.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | missense | <0.01% | Reduced enzymatic activity in vitro (ClinVar ID: 374597) |
| c.487G>A (p.Gly163Arg) | missense | <0.01% | Unknown functional effect (ClinVar ID: 374598) |
Mutation functional classification
Loss of Function (LOF)
p.Thr35Met reduces catalytic activity in vitro.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • phosphoglucomutase activity (GO:0004614) | • glycogen catabolic process (GO:0005980) |
| • cytosol (GO:0005829) |
Pathways
• Glycogen metabolism (Reactome: R-HSA-8982491)
Protein Summary
PGM2L1 is a 569-amino acid protein with a molecular weight of approximately 63 kDa. It contains a phosphoglucomutase domain and is predicted to catalyze the reversible conversion of glucose-1-phosphate to glucose-6-phosphate. The protein is expressed in liver, kidney, and other tissues, and may play a role in glycogen metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGM2L1 Knockout HEK293 Cell Line | EDJ-KQ14739 | Human | 283209 | Details Get a Quote |
| PGM2L1 Knockout A-549 Cell Line | EDJ-KQ45088 | Human | 283209 | Details Get a Quote |
| PGM2L1 Knockout HCT 116 Cell Line | EDJ-KQ45089 | Human | 283209 | Details Get a Quote |
| PGM2L1 Knockout HeLa Cell Line | EDJ-KQ45090 | Human | 283209 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
