Identity
HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
BM32A,PMMLP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 283209
MIM: 611610
HGNC: 20898
Ensembl: ENSG00000165434
Variants:
dbSNP: 283209
ClinVar: 283209
TCGA: ENSG00000165434
COSMIC: PGM2L1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165434 | ENST00000298198 | Q6PCE3 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Starch and sucrose metabolism | KEGG | ko00500 |
| Starch and sucrose metabolism | KEGG | hsa00500 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33979636 | 2021 | Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. | 7 |
| 33979636 | 2021 | Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. | 7 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 17804405 | 2007 | Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. | 25 |
| 17804405 | 2007 | Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. | 25 |
Citation
Dessen P
PGM2L1 (phosphoglucomutase 2 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71868/pgm2l1-(phosphoglucomutase-2-like-1)
