BPGM (bisphosphoglycerate mutase)

Gene

• Entrez ID: 669
• Gene name: Bisphosphoglycerate mutase
• Gene symbol: BPGM
• Synonyms: DPGM, ECYT8
• Chromosome: 7
• Chromosome location: 7q33
• Summary: 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its syn

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121964925	C>T	Pathogenic	Missense variant, coding sequence variant
rs786205092	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019319	hsa-miR-148b-3p	Microarray	17612493
MIRT022045	hsa-miR-128-3p	Microarray	17612493
MIRT023275	hsa-miR-122-5p	Microarray	17612493
MIRT025166	hsa-miR-181a-5p	Microarray	17612493
MIRT043853	hsa-miR-340-3p	CLASH	23622248
MIRT823737	hsa-miR-3148	CLIP-seq
MIRT823738	hsa-miR-4311	CLIP-seq
MIRT823739	hsa-miR-4668-5p	CLIP-seq
MIRT823740	hsa-miR-542-5p	CLIP-seq
MIRT2485875	hsa-miR-150	CLIP-seq
MIRT2485876	hsa-miR-205	CLIP-seq
MIRT2485877	hsa-miR-33a	CLIP-seq
MIRT2485878	hsa-miR-33b	CLIP-seq
MIRT2485879	hsa-miR-3675-3p	CLIP-seq
MIRT2485880	hsa-miR-3923	CLIP-seq
MIRT2485881	hsa-miR-4252	CLIP-seq
MIRT2485882	hsa-miR-4278	CLIP-seq
MIRT2485883	hsa-miR-4286	CLIP-seq
MIRT2485884	hsa-miR-4301	CLIP-seq
MIRT2485885	hsa-miR-4323	CLIP-seq
MIRT2485886	hsa-miR-4330	CLIP-seq
MIRT2485887	hsa-miR-4489	CLIP-seq
MIRT2485888	hsa-miR-450b-5p	CLIP-seq
MIRT2485889	hsa-miR-4635	CLIP-seq
MIRT2485890	hsa-miR-4659a-3p	CLIP-seq
MIRT2485891	hsa-miR-4659b-3p	CLIP-seq
MIRT2485892	hsa-miR-4662a-5p	CLIP-seq
MIRT2485893	hsa-miR-4684-5p	CLIP-seq
MIRT2485894	hsa-miR-4709-5p	CLIP-seq
MIRT2485895	hsa-miR-4713-5p	CLIP-seq
MIRT2485896	hsa-miR-4716-3p	CLIP-seq
MIRT2485897	hsa-miR-4758-3p	CLIP-seq
MIRT2485898	hsa-miR-4778-3p	CLIP-seq
MIRT2485899	hsa-miR-507	CLIP-seq
MIRT2485900	hsa-miR-526b	CLIP-seq
MIRT2485901	hsa-miR-532-3p	CLIP-seq
MIRT2485902	hsa-miR-557	CLIP-seq
MIRT2485903	hsa-miR-578	CLIP-seq
MIRT2485904	hsa-miR-580	CLIP-seq
MIRT2485905	hsa-miR-621	CLIP-seq
MIRT2485875	hsa-miR-150	CLIP-seq
MIRT2485876	hsa-miR-205	CLIP-seq
MIRT2485877	hsa-miR-33a	CLIP-seq
MIRT2485878	hsa-miR-33b	CLIP-seq
MIRT2485879	hsa-miR-3675-3p	CLIP-seq
MIRT2485880	hsa-miR-3923	CLIP-seq
MIRT2485881	hsa-miR-4252	CLIP-seq
MIRT2485883	hsa-miR-4286	CLIP-seq
MIRT2485884	hsa-miR-4301	CLIP-seq
MIRT2485885	hsa-miR-4323	CLIP-seq
MIRT2485886	hsa-miR-4330	CLIP-seq
MIRT2485888	hsa-miR-450b-5p	CLIP-seq
MIRT2485889	hsa-miR-4635	CLIP-seq
MIRT2485890	hsa-miR-4659a-3p	CLIP-seq
MIRT2485891	hsa-miR-4659b-3p	CLIP-seq
MIRT2485892	hsa-miR-4662a-5p	CLIP-seq
MIRT2485893	hsa-miR-4684-5p	CLIP-seq
MIRT2485894	hsa-miR-4709-5p	CLIP-seq
MIRT2485895	hsa-miR-4713-5p	CLIP-seq
MIRT2485897	hsa-miR-4758-3p	CLIP-seq
MIRT2485898	hsa-miR-4778-3p	CLIP-seq
MIRT2485899	hsa-miR-507	CLIP-seq
MIRT2485900	hsa-miR-526b	CLIP-seq
MIRT2485901	hsa-miR-532-3p	CLIP-seq
MIRT2676031	hsa-miR-539	CLIP-seq
MIRT2485902	hsa-miR-557	CLIP-seq
MIRT2485903	hsa-miR-578	CLIP-seq
MIRT2485904	hsa-miR-580	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004082	Function	Bisphosphoglycerate mutase activity	IEA
GO:0004619	Function	Phosphoglycerate mutase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	NAS	2542247
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	2542247
GO:0016787	Function	Hydrolase activity	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0061621	Process	Canonical glycolysis	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 613896
• HGNC: 1093
• e!Ensembl: ENSG00000172331

Protein

• UniProt ID: P07738
• Protein name: Bisphosphoglycerate mutase (BPGM) (EC 5.4.2.4) (2,3-bisphosphoglycerate mutase, erythrocyte) (2,3-bisphosphoglycerate synthase) (EC 5.4.2.11) (2,3-diphosphoglycerate mutase) (DPGM) (BPG-dependent PGAM)
• Protein function: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.
• PDB: 1T8P, 2A9J, 2F90, 2H4X, 2H4Z, 2H52, 2HHJ, 3NFY, 7N3R, 7N3S, 7THI, 8X2S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00300	His_Phos_1	6 → 137	Histidine phosphatase superfamily (branch 1)	Domain
  PF00300	His_Phos_1	127 → 229	Histidine phosphatase superfamily (branch 1)	Domain

• Sequence:

  MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVL
  NRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYN
  VTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRG
  KTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEA
  IQAAIKKVEDQGKVKQAKK

• Sequence length: 259

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Glycine, serine and threonine metabolism
Metabolic pathways

Reactome:

Glycolysis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Normocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Deficiency of bisphosphoglycerate mutase	Deficiency of bisphosphoglycerate mutase	rs121964925, rs786205092	2542247, 1421379, 15054810
Hemolytic anemia	Nonspherocytic hemolytic anemia, Hemolytic anemia due to diphosphoglycerate mutase deficiency	rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057

Unknown
Disease name	Disease term	dbSNP ID	References
Cholecystitis	Cholecystitis
Polycythemia	Polycythemia