Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	669
Gene name	Bisphosphoglycerate mutase
Gene symbol	BPGM
Synonyms (NCBI Gene)	DPGMECYT8
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

Show/Hide all (2)

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

Show/Hide all (68)

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

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004082	Function	Bisphosphoglycerate mutase activity	IBA
GO:0004082	Function	Bisphosphoglycerate mutase activity	IEA
GO:0004082	Function	Bisphosphoglycerate mutase activity	TAS	2542247
GO:0004619	Function	Phosphoglycerate mutase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	NAS	2542247
GO:0006096	Process	Glycolytic process	IEA
GO:0006753	Process	Nucleoside phosphate metabolic process	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	2542247
GO:0015671	Process	Oxygen transport	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016868	Function	Intramolecular phosphotransferase activity	IEA
GO:0033554	Process	Cellular response to stress	IEA
GO:0042832	Process	Defense response to protozoan	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0150076	Process	Neuroinflammatory response	IEA
GO:1901136	Process	Carbohydrate derivative catabolic process	TAS

MIM	HGNC	e!Ensembl
613896	1093	ENSG00000172331

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the syncytiotrophoblast layer of the placental villi at the feto-maternal interface (at protein level). {ECO:0000269|PubMed:16246416, ECO:000026

Sequence

MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVL
NRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYN
VTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRG
KTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEA
IQAAIKKVEDQGKVKQAKK

Sequence length

259

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Glycine, serine and threonine metabolism Metabolic pathways		Glycolysis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of bisphosphoglycerate mutase	Pathogenic	rs121964925, rs786205092, rs751972865, rs781222092	RCV000012872 RCV000012873 RCV001249567 RCV001249568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE SECONDARY POLYCYTHEMIA NOT ASSOCIATED WITH VHL GENE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS, FAMILIAL, 8	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cholecystitis	Cholecystitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of bisphosphoglycerate mutase	Deficiency Of Bisphosphoglycerate Mutase	UNIPROT_DG	1421379, 15054810, 2542247		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of bisphosphoglycerate mutase	Deficiency Of Bisphosphoglycerate Mutase	ORPHANET_DG	15054810		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of bisphosphoglycerate mutase	Deficiency Of Bisphosphoglycerate Mutase	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of bisphosphoglycerate mutase	Deficiency Of Bisphosphoglycerate Mutase	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic anemia due to diphosphoglycerate mutase deficiency	Hemolytic Anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonspherocytic hemolytic anemia	Hemolytic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Normocytic anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	15054810, 27651169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

BPGM (bisphosphoglycerate mutase)