ENSG00000172331
Homo sapiens | |
Features
| Gene ID: | ENSG00000172331 | | | | | Biological name : | BPGM | | | | | Synonyms : | bisphosphoglycerate mutase / BPGM / P07738 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | 1 | | Band: | q33 | | Gene start: | 134646808 | | Gene end: | 134679813 | | | | | Corresponding Affymetrix probe sets: | 203502_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000399838
Ensembl peptide - ENSP00000403050
Ensembl peptide - ENSP00000342032
Ensembl peptide - ENSP00000376840
NCBI entrez gene - 669
See in Manteia.
OMIM - 613896
RefSeq - XM_011516527
RefSeq - NM_001293085
RefSeq - NM_001724
RefSeq - NM_199186
RefSeq Peptide - NP_001280014
RefSeq Peptide - NP_001715
RefSeq Peptide - NP_954655
swissprot - A0A024R782
swissprot - C9JH23
swissprot - P07738
Ensembl - ENSG00000172331
| | | | | Related genetic diseases (OMIM): | 222800 - Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR001345 | Phosphoglycerate/bisphosphoglycerate mutase, active site | | IPR005952 | Phosphoglycerate mutase 1 | | IPR013078 | Histidine phosphatase superfamily, clade-1 | | IPR029033 | Histidine phosphatase superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| | HP:0001081 | Cholelithiasis | |
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| | HP:0001082 | Cholecystitis | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0001895 | Normochromic anemia | |
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| | HP:0001897 | Normocytic anemia | |
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| | HP:0001930 | Nonspherocytic hemolytic anemia | |
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| | HP:0001939 | Metabolism abnormality | |
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Interacting proteins (from Reactome)
0 s.
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