• Gene id: 283209

Gene Summary

• Gene Symbol: PGM2L1   Gene   UCSC   Ensembl
• Aliases: BM32A, PMMLP
• Gene name: phosphoglucomutase 2 like 1
• Alternate names: glucose 1,6-bisphosphate synthase,
• Gene location: 11q13.4 (74398750: 74330315)     Exons: 15     NC_000011.10
• OMIM: 611610

Protein Summary

• Protein general information: Q6PCE3  
  • Name: Glucose 1,6 bisphosphate synthase (EC 2.7.1.106) (PMMLP) (Phosphoglucomutase 2 like 1)
  • Length: 622  
  • Mass: 70442
• Sequence:

  MAENTEGDLNSNLLHAPYHTGDPQLDTAIGQWLRWDKNPKTKEQIENLLRNGMNKELRDRLCCRMTFGTAGLRSA
  MGAGFCYINDLTVIQSTQGMYKYLERCFSDFKQRGFVVGYDTRGQVTSSCSSQRLAKLTAAVLLAKDVPVYLFSR
  YVPTPFVPYAVQKLKAVAGVMITASHNRKEDNGYKVYWETGAQITSPHDKEILKCIEECVEPWNGSWNDNLVDTS
  PLKRDPLQDICRRYMEDLKKICFYRELNSKTTLKFVHTSFHGVGHDYVQLAFKVFGFKPPIPVPEQKDPDPDFST
  VKCPNPEEGESVLELSLRLAEKENARVVLATDPDADRLAAAELQENGCWKVFTGNELAALFGWWMFDCWKKNKSR
  NADVKNVYMLATTVSSKILKAIALKEGFHFEETLPGFKWIGSRIIDLLENGKEVLFAFEESIGFLCGTSVLDKDG
  VSAAVVVAEMASYLETMNITLKQQLVKVYEKYGYHISKTSYFLCYEPPTIKSIFERLRNFDSPKEYPKFCGTFAI
  LHVRDVTTGYDSSQPNKKSVLPVSKNSQMITFTFQNGCVATLRTSGTEPKIKYYAEMCASPDQSDTALLEEELKK
  LIDALIENFLQPSKNGLIWRSV

• Structural information:
  • Interpro: IPR005844  IPR016055  IPR005845  IPR005846  IPR005843   IPR036900  
  • STRING: ENSP00000298198
• Other Databases: GeneCards:  PGM2L1  Malacards:  PGM2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047933	glucose-1,6-bisphosphate synthase activity	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016868	intramolecular transferase activity, phosphotransferases	IEA	molecular function
GO:0071704	organic substance metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0047933	glucose-1,6-bisphosphate synthase activity	IEA	molecular function
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0019388	galactose catabolic process	TAS	biological process
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005978	glycogen biosynthetic process	TAS	biological process
GO:0047933	glucose-1,6-bisphosphate synthase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00500	Starch and sucrose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq