U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BPGM bisphosphoglycerate mutase [ Homo sapiens (human) ]

Gene ID: 669, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
BPGMprovided by HGNC
Official Full Name
bisphosphoglycerate mutaseprovided by HGNC
Primary source
HGNC:HGNC:1093
See related
Ensembl:ENSG00000172331 MIM:613896; AllianceGenome:HGNC:1093
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DPGM; ECYT8
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]
Expression
Broad expression in bone marrow (RPKM 22.0), placenta (RPKM 21.2) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See BPGM in Genome Data Viewer
Location:
7q33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134646853..134679816)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135954938..135987472)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134331605..134364568)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26690 Neighboring gene aldo-keto reductase family 1 member B10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:134247191-134248390 Neighboring gene aldo-keto reductase family 1 member B15 Neighboring gene uncharacterized LOC124901750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26691 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26693 Neighboring gene Sharpr-MPRA regulatory region 13526 Neighboring gene Sharpr-MPRA regulatory region 7726 Neighboring gene Sharpr-MPRA regulatory region 6861 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:134388514-134388724 Neighboring gene uncharacterized LOC124901751 Neighboring gene tubulin beta 3 class III pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. van Dijk MJ, et al. Br J Haematol, 2023 Jan. PMID 36177683, Free PMC Article
  2. Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding. Patterson A, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Nov 1. PMID 21045285, Free PMC Article
  3. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. Wang Y, et al. J Biol Chem, 2006 Dec 22. PMID 17052986
  4. Crystal structure of human bisphosphoglycerate mutase. Wang Y, et al. J Biol Chem, 2004 Sep 10. PMID 15258155
  5. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. Fujita T, et al. J Biochem, 1998 Dec 1. PMID 9832630

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
    Title: Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
  2. Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.
    Title: Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.
  3. 1.94 A resolution X-ray structure of bisphosphoglycerate mutase is presented, focusing on the dynamic nature of key ligand-binding residues and their interaction with the inhibitor citrate
    Title: Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding.
  4. bisphosphoglycerate mutase crystallographic structure
    Title: Crystal structure of human bisphosphoglycerate mutase.
  5. analysis of histidine phosphorylation in human bisphosphoglycerate mutase
    Title: Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Deficiency of bisphosphoglycerate mutase
MedGen: C1291620 OMIM: 222800 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
  
enables bisphosphoglycerate mutase activity TAS
Traceable Author Statement
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate derivative catabolic process TAS
Traceable Author Statement
more info
  
involved_in carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in defense response to protozoan IEA
Inferred from Electronic Annotation
more info
  
involved_in erythrocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of blood-brain barrier IEA
Inferred from Electronic Annotation
more info
  
involved_in glycolytic process IEA
Inferred from Electronic Annotation
more info
  
involved_in neuroinflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in oxygen transport IEA
Inferred from Electronic Annotation
more info
  
involved_in respiratory gaseous exchange by respiratory system TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
bisphosphoglycerate mutase
Names
2,3-bisphosphoglycerate mutase, erythrocyte
2,3-bisphosphoglycerate synthase
2,3-diphosphoglycerate mutase
BPG-dependent PGAM
erythrocyte 2,3-bisphosphoglycerate mutase
testis secretory sperm-binding protein Li 202a
NP_001280014.1
NP_001715.1
NP_954655.1
XP_011514829.1
XP_047276717.1
XP_054214843.1
XP_054214844.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012921.1 RefSeqGene

    Range
    5075..38038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001293085.2 → NP_001280014.1  bisphosphoglycerate mutase

    See identical proteins and their annotated locations for NP_001280014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC017050, BU608668, DA701935
    Consensus CDS
    CCDS5833.1
    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782, B3KUR3
    Related
    ENSP00000399838.1, ENST00000418040.5
    Conserved Domains (1) summary
    cl11399
    Location:4 → 255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  2. NM_001724.5 → NP_001715.1  bisphosphoglycerate mutase

    See identical proteins and their annotated locations for NP_001715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC017050, BU608668
    Consensus CDS
    CCDS5833.1
    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782, B3KUR3
    Related
    ENSP00000342032.3, ENST00000344924.8
    Conserved Domains (1) summary
    cl11399
    Location:4 → 255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  3. NM_199186.3 → NP_954655.1  bisphosphoglycerate mutase

    See identical proteins and their annotated locations for NP_954655.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC017050, BU608668, DB049554
    Consensus CDS
    CCDS5833.1
    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782, B3KUR3
    Related
    ENSP00000376840.2, ENST00000393132.2
    Conserved Domains (1) summary
    cl11399
    Location:4 → 255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    134646853..134679816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420761.1 → XP_047276717.1  bisphosphoglycerate mutase isoform X1

    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782

  2. XM_011516527.3 → XP_011514829.1  bisphosphoglycerate mutase isoform X1

    See identical proteins and their annotated locations for XP_011514829.1

    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782, B3KUR3
    Conserved Domains (1) summary
    cl11399
    Location:4 → 255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    135954938..135987472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358869.1 → XP_054214844.1  bisphosphoglycerate mutase isoform X1

    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782

  2. XM_054358868.1 → XP_054214843.1  bisphosphoglycerate mutase isoform X1

    UniProtKB/Swiss-Prot
    A4D1N9, P07738
    UniProtKB/TrEMBL
    A0A024R782
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07738.2 GenPept UniProtKB/Swiss-Prot:P07738

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous