PGM2L1 - phosphoglucomutase 2 like 1 Gene

Also Known as BM32A; PMMLP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283209

About PGM2L1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,330,316-74,398,433 (from NCBI)

This gene has 2 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 28.2), endometrium (RPKM 3.0) and 7 other tissues.

Summary

Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process and phosphorylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PGM2L1 Products (1)

mRNA Protein Name
NM_173582.6 NP_775853.2 glucose 1,6-bisphosphate synthase

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables glucose-1,6-bisphosphate synthase activity IDA
IDA: Inferred from direct assay
17804405 GOA
enables glucose-1,6-bisphosphate synthase activity IMP
IMP: Inferred from mutant phenotype
33979636 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PGM2L1 Protein Structure

PGM_PMM_I

PGM_PMM_I: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I (65 - 208)

PGM_PMM_II

PGM_PMM_II: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II (238 - 345)

PGM_PMM_III

PGM_PMM_III: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III (354 - 482)

PGM_PMM_IV

PGM_PMM_IV: Phosphoglucomutase/phosphomannomutase, C-terminal domain (550 - 591)

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  • 622 a.a.
Protein Preferred Names Protein Names

glucose 1,6-bisphosphate synthase

Related Diseases

Diseases Alias
Cerebral Creatine Deficiency Syndrome 1

  • Creatine Transporter Deficiency

  • Creatine Transporter Defect

  • Slc6a8 Deficiency

  • X-Linked Creatine Deficiency Syndrome

  • CCDS1

  • Creatine Deficiency Syndrome, X-Linked

  • X-Linked Creatine Deficiency

  • Creatine Deficiency, X-Linked

  • X-Linked Creatine Transporter Deficiency

  • Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia

  • Mental Retardation, X-Linked, With Creatine Transport Deficiency

  • Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia

  • Intellectual Disability, X-Linked, With Creatine Transport Deficiency

  • Slc6a8-Related Creatine Transporter Deficiency

  • Deficiency, Cerebral Creatine, Syndrome, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10391 PGM2L1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21170 Pgm2l1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27687 Pgm2l1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PGM2L1 RGD RGD:1583226
Mus musculus PGM2L1 MGD MGI:1918224
Canis familiaris PGM2L1 VGNC VGNC:44465
Felis catus PGM2L1 VGNC VGNC:64125
Bos taurus PGM2L1 VGNC VGNC:32795
Macaca mulatta PGM2L1 VGNC VGNC:75839
Others PGM2L1 NCBI