BPGM

Chr 7q33

bisphosphoglycerate mutase

MANE:: ENST00000344924.8

OMIM: 613896 ↗NCBI: 669 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BPGM · P07738

v62025-08-01

Predicted Aligned Error matrix for BPGM — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.8/ 100

Very high

259 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)4%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary Erythrocytosis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

hemolytic anemia due to diphosphoglycerate mutase deficiency
0.68
autosomal recessive secondary polycythemia not associated with VHL gene
0.37
placenta praevia
0.28
vertebral column disorder
0.07
primary familial polycythemia due to EPO receptor mutation
0.07
hereditary spherocytosis
0.07
Rh deficiency syndrome
0.06
maple syrup urine disease
0.06
autosomal dominant secondary polycythemia
0.06
dehydrated hereditary stomatocytosis
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bisphosphoglycerate mutase

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