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Gene Model: Pgam2

NomenclatureGenomic Location
SymbolPgam2Chromosome2
NamePhosphoglycerate mutase 2Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 26 Mbp

Molecular Function

Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced activity.

2-phospho-D-glycerate = 3-phospho-D-glycerate.

3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate.

2,3-bisphospho-D-glycerate + H2O = 3-phospho-D-glycerate + phosphate.

Molecular Function Terms:

binding
   cofactor binding

catalytic activity
   hydrolase activity
   isomerase activity
      intramolecular transferase activity
         intramolecular transferase activity, phosphotransferases
            bisphosphoglycerate mutase activity
            phosphoglycerate mutase activity

Human Disease Association

Defects in PGAM2 are the cause of glycogen storage disease type 10 (GSD10) [MIM:261670]. A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps and excercise intolerance.

Predicted Transcript
     1 ATGCCAACCCACCGGCTTGTGATTGTGAGGCATGGAGAGAGCACCTGGAACCAGGAGAAC
    61 CGTTTCTGTGGCTGGTTTGATGCCGAGCTGAGCGAGAAAGGGCAGGAGGAAGCCAAGCGC
   121 GGGGCCCAGGCTGTCAAGGATGCTGGCTACGAGTTCGACATCTGCTACACATCCGTGCTC
   181 AAAAGGGCCATCCGCACTCTGTGGTACATCATGGATGGCATTGACCAGATGTGGCTGCCC
   241 GTGGTGCGCACCTGGCGCCTCAACGAGCGCCACTATGGGGGCCTGACCGGACTCAACAAG
   301 GCCGAGACGGCAGCCAAGCACGGGGAAGAACAGGTGAAGATCTGGAGGCGTTCCTATGAC
   361 ATCCCACCGCCCCCCATGGATGAAAACCACCCTTACTATCAAATCATCAGCAAGGCCCGA
   421 CGTTATGCTGCTTTGAAATCTGGAGAACTGCCTTCTTGTGAGAGCCTCAAGGATACCATT
   481 GCTCGTGCCTTGCCCTTTTGGAATGATGAGATTGCTCCCCAGATCAAAGCCGGCAAGAGA
   541 GTATTAATTGCTGCCCATGGCAACAGCCTTCGAGGGATTGTCAAGCACTTAGAAGGGATG
   601 TCTGATGCAGCCATCATGGAACTCAACCTTCCAACTGGGATTCCCATCGTGTATGAATTG
   661 GACGACAACCTGAAACCTACGAAGCCCATGCAGTTCCTGGGTGACGAAGAAACCGTAAGG
   721 AAGGCCATGGAAGCTGTGGCAGCCCAGGGCAAGGTCAAG

Predicted Protein Product
MPTHRLVIVRHGESTWNQENRFCGWFDAELSEKGQEEAKRGAQAVKDAGYEFDICYTSVL
KRAIRTLWYIMDGIDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSYD
IPPPPMDENHPYYQIISKARRYAALKSGELPSCESLKDTIARALPFWNDEIAPQIKAGKR
VLIAAHGNSLRGIVKHLEGMSDAAIMELNLPTGIPIVYELDDNLKPTKPMQFLGDEETVR
KAMEAVAAQGKVK
Protein Alignment to Mouse
sp|O70250|PGAM2_MOUSE Phosphoglycerate mutase 2 OS=Mus musculus GN=Pgam2 PE=1
            SV=3
      MGI:1933118 Pgam2 phosphoglycerate mutase 2 (Chr 11)
        Length = 253

 Score = 1179 (420.1 bits), Expect = 1.7e-120, P = 1.7e-120
 Identities = 222/253 (87%), Positives = 232/253 (91%)

Query:     1 MPTHRLVIVRHGESTWNQENRFCGWFDAELSEKGQEEAKRGAQAVKDAGYEFDICYTSVL 60
             M THRLV+VRHGES WNQENRFCGWFDAELSEKG EEAKRGA A+KDA  EFDICYTSVL
Sbjct:     1 MTTHRLVMVRHGESLWNQENRFCGWFDAELSEKGAEEAKRGATAIKDAKIEFDICYTSVL 60

Query:    61 KRAIRTLWYIMDGIDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSYD 120
             KRAIRTLW I+D  DQMW+PVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRS+D
Sbjct:    61 KRAIRTLWTILDVTDQMWVPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFD 120

Query:   121 IPPPPMDENHPYYQIISKARRYAALKSGELPSCESLKDTIARALPFWNDEIAPQIKAGKR 180
              PPPPMDE H YY  ISK RRYA LK  ELP+CESLKDTIARALPFWN+EIAP+IKAG+R
Sbjct:   121 TPPPPMDEKHNYYTSISKDRRYAGLKPEELPTCESLKDTIARALPFWNEEIAPKIKAGQR 180

Query:   181 VLIAAHGNSLRGIVKHLEGMSDAAIMELNLPTGIPIVYELDDNLKPTKPMQFLGDEETVR 240
             VLIAAHGNSLRGIVKHLEGMSD AIMELNLPTGIPIVYELD NLKPTKPM+FLGDEETVR
Sbjct:   181 VLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELDQNLKPTKPMRFLGDEETVR 240

Query:   241 KAMEAVAAQGKVK 253
             KAMEAVAAQGK K
Sbjct:   241 KAMEAVAAQGKAK 253