BPGM - bisphosphoglycerate mutase Gene

Homo sapiens

Also known as DPGM; ECYT8

Gene ID: 669 | Gene type: protein coding

About BPGM

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:134,646,853-134,679,816 (from NCBI)

This gene has 4 transcripts (splice variants), 226 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 22.0), placenta (RPKM 21.2) and 24 other tissues.

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 synthetase activity, and 2,3-DPG degradation via its Phosphatase activity. The Enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this Enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

BPGM Products(3)

mRNA	Protein	Name
NM_001293085.2	NP_001280014.1	bisphosphoglycerate mutase
NM_001724.5	NP_001715.1	bisphosphoglycerate mutase
NM_199186.3	NP_954655.1	bisphosphoglycerate mutase

BPGM Protein Structure

His_Phos_1

0
100
200
259 a.a.

Protein Preferred Names

Protein Names

bisphosphoglycerate mutase

2,3-bisphosphoglycerate mutase, erythrocyte

Recombinant BPGM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7665	BPGM Protein, Human (His)	P07738 (S2-K259)	≥95%

Related Diseases

Diseases

Alias

Erythrocytosis, Familial, 8

Diphosphoglycerate Mutase Deficiency Of Erythrocyte	ECYT8
Bisphosphoglycerate Mutase Deficiency	Bisphosphoglyceromutase Deficiency
Bpgm Deficiency	Dpgm Deficiency
Deficiency Of Bisphosphoglycerate Mutase	Familial Erythrocytosis 8
Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency	Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency
Erythrocytosis, Familial, Type 8

Autosomal Recessive Secondary Polycythemia Not Associated With Vhl Gene

Autosomal Recessive Secondary Erythrocytosis Not Associated With Vhl Gene	Autosomal Recessive Secondary Erythrocytosis, Non-Chuvash Type
Autosomal Recessive Secondary Polycythemia, Non-Chuvash Type

Erythrocytosis, Familial, 4

ECYT4	Familial Erythrocytosis 4
Erythrocytosis, Familial, Type 4

Erythrocytosis, Familial, 3

ECYT3	Familial Erythrocytosis 3
Erythrocytosis, Familial, Type 3

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Erythrocytosis, Familial, 1

ECYT1	Pfcp
Primary Familial And Congenital Polycythemia	Familial Erythrocytosis 1
Familial Erythrocytosis	Polycythemia, Primary Familial And Congenital
Autosomal Dominant Benign Erythrocytosis	Familial Erythrocytosis Type 1
Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation	Congenital Polycythemia Due To Erythropoietin Receptor Mutation
Primary Congenital Erythrocytosis	Primary Familial Polycythemia
Erythrocytosis, Autosomal Dominant Benign	Erythrocytosis, Somatic
Autosomal Dominant Familial Erythrocytosis-1	Erythrocytosis Autosomal Dominant Benign
Familial Primary Polycythemia	Familial Erythrocytosis, 1
Erythrocytosis, Familial, Type 1

Erythrocytosis, Familial, 6

ECYT6	Erythrocytosis 6
Familial Erythrocytosis 6	Erythrocytosis, Beta-Globin Type
Polycythemia, Beta-Globin Type	Beta-Globin Type Erythrocytosis
Beta-Globin Type Polycythemia

Primary Polycythemia

Familial Erythrocytosis	Familiar Polycythemia
Benign Familial Polycythemia	Congenital Erythrocytosis
Familial Polycythemia	Hereditary Erythrocytosis
Primary Familial Polycythemia	Erythrocytosis, Familial
Polycythemia Vera	Primary Familial Polycythaemia
Primary Inherited Polycythaemia

Erythrocytosis, Familial, 7

ECYT7	Erythrocytosis 7
Familial Erythrocytosis 7	Erythrocytosis, Alpha-Globin Type
Polycythemia, Alpha-Globin Type	Alpha-Globin Type Erythrocytosis
Alpha-Globin Type Polycythemia

Erythrocytosis, Familial, 5

ECYT5

Familial Erythrocytosis 5

Acquired Polycythemia

Secondary Polycythemia	Polycythemia, Secondary
Secondary Erythrocytosis	Polycythemia Secondary

Triosephosphate Isomerase Deficiency

TPID	Triose Phosphate-Isomerase Deficiency
Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency	Tpi Deficiency
Triose Phosphate Isomerase Deficiency	Deficiency Of Phosphotriose Isomerase
Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency

Erythrocytosis, Familial, 2

Chuvash Polycythemia	ECYT2
Familial Erythrocytosis 2	Autosomal Recessive Benign Erythrocytosis
Polycythemia, Vhl-Dependent	Chuvash Erythromatosis
Chuvash Type Polycythemia	Chuvash Erythrocytosis
Von Hippel-Lindau-Dependent Polycythemia	Polycythemia Chuvash Type
Vhl-Dependent Polycythemia	Erythrocytosis, Familial, Type 2

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis	Hereditary Xerocytosis
Xerocytosis, Hereditary	Pshk1
Pseudohyperkalemia Edinburgh	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
DHS1	Dhs
Hereditary Desiccytosis	Dehydrated Hereditary Stomatocytosis 1
Desiccytosis, Hereditary	Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
Pseudohyperkalemia Familial 1, Due To Red Cell Leak	Desiccytosis Hereditary
Xerocytosis Hereditary	Familial Pseudohyperkalemia 1 Due To Red Cell Leak
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema	Xerocytosis

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C	FANCC
Facc	Fac
Fa3	Fanconi Pancytopenia Type 3
Fanconi Pancytopenia, Type 3	Faces Syndrome
Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies	Friedman-Goodman Syndrome
Abnormality Of The Face

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01578	BPGM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BPGM	MGD	MGI:1098242
Felis catus	BPGM	VGNC	VGNC:60151
Rattus norvegicus	BPGM	RGD	RGD:735018
Canis familiaris	BPGM	VGNC	VGNC:38502
Macaca mulatta	BPGM	VGNC	VGNC:70275
Others	BPGM	NCBI