Gene table of BPGM : bisphosphoglycerate mutase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BPGM	OMIM link	Number of associated genes	genes
222800	BISPHOSPHOGLYCERATE MUTASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	BPGM

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Glycine, serine and threonine metabolism	hsa00260	7.45
Metabolic pathways	hsa01100	2.49
Glycolysis / Gluconeogenesis	hsa00010	6.64

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
phosphatase activity	GO:0016791	4.11
isomerase activity	GO:0016853	4.62
bisphosphoglycerate 2-phosphatase activity	GO:0004083	8.13
hydrolase activity, acting on ester bonds	GO:0016788	3.1
phosphoric ester hydrolase activity	GO:0042578	3.82
catalytic activity	GO:0003824	1.05
intramolecular transferase activity, phosphotransferases	GO:0016868	7.34
2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	GO:0046538	8.35
intramolecular transferase activity	GO:0016866	6.44
phosphoglycerate mutase activity	GO:0004619	8.35
bisphosphoglycerate mutase activity	GO:0004082	8.35
bisphosphoglycerate phosphatase activity	GO:0034416	7.95