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PGAM2 (phosphoglycerate mutase 2)
Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5224
Gene nameGene Name - the full gene name approved by the HGNC.
Phosphoglycerate mutase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PGAM2
SynonymsGene synonyms aliases
GSD10, PGAM-M, PGAMM
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p13
SummarySummary of gene provided in NCBI Entrez Gene.
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migratin
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004082 Function Bisphosphoglycerate mutase activity IEA
GO:0004619 Function Phosphoglycerate mutase activity IMP 6262916
GO:0005515 Function Protein binding IPI 28514442, 32296183
GO:0005634 Component Nucleus HDA 21630459
GO:0005829 Component Cytosol TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P15259
Protein name Phosphoglycerate mutase 2 (EC 5.4.2.11) (EC 5.4.2.4) (BPG-dependent PGAM 2) (Muscle-specific phosphoglycerate mutase) (Phosphoglycerate mutase isozyme M) (PGAM-M)
Protein 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), but with a reduced activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00300 His_Phos_1
6 → 134
Histidine phosphatase superfamily (branch 1)
 Domain
PF00300 His_Phos_1
126 → 223
Histidine phosphatase superfamily (branch 1)
 Domain
Sequence 
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVL
KRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFD
IPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKR
VLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR
KAMEAVAAQGKAK
Sequence length 253
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Glycolysis / Gluconeogenesis
Glycine, serine and threonine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Glucagon signaling pathway
Central carbon metabolism in cancer 		  Glycolysis
Gluconeogenesis
Associated diseases
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glycogen storage disease Glycogen Storage Disease, Glycogen storage disease type X, Glycogen storage disease due to phosphoglycerate mutase deficiency rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs116987552, rs119103251, rs119103252, rs119103253, rs119103254, rs144081869, rs119103255, rs786200874, rs267606993, rs119103257, rs119103258, rs119103259, rs119103260, rs1474863903, rs764313717, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs1575782181, rs137852892, rs397515344, rs137852894, rs121907936, rs121907937, rs28937909, rs121907938, rs121907940, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs121908987, rs121908991, rs267606977, rs137852546, rs137852547, rs1603266754, rs137852548, rs137852528, rs137852529, rs431905501, rs137852531, rs137852532, rs137852533, rs137852535, rs137852536, rs137852537, rs137852538, rs431905503, rs137852539, rs137852285, rs137852286, rs587776731, rs137852287, rs137852288, rs587776732, rs137852293, rs137852289, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147483647, rs137852295, rs113993982, rs113993974, rs113993977, rs113993981, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs80356482, rs1801176, rs104894571, rs34667348, rs797044442, rs121918021, rs137853588, rs137853589, rs137853590, rs1596680941, rs137853591, rs137853592, rs118203895, rs118203896, rs118203897, rs267607212, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423, rs121918424, rs121434584, rs80356485, rs80356479, rs80356483, rs113994130, rs113994131, rs113993978, rs113993979, rs113993986, rs113993973, rs113993975, rs387906505, rs113993976, rs199948078, rs193922697, rs397514631, rs1325298827, rs140869027, rs398123169, rs398123171, rs398123172, rs369532274, rs398123173, rs398123174, rs398124208, rs398124209, rs398124210, rs587777375, rs527236146, rs527236147, rs370652040, rs143137713, rs727502871, rs369531647, rs730880022, rs730880372, rs201958741, rs730882148, rs796051877, rs752921215, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs786204655, rs769960481, rs767739769, rs786204723, rs755117847, rs764920787, rs780226142, rs367727229, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs202143236, rs786204785, rs374470794, rs771427957, rs150547274, rs113994127, rs193186112, rs794727706, rs794729208, rs797045008, rs192044702, rs797044877, rs150382575, rs201157731, rs863224023, rs869312919, rs764622267, rs878855017, rs1800312, rs886039883, rs886041476, rs779556619, rs757617999, rs143523371, rs886042086, rs201201443, rs886042358, rs761317813, rs142752477, rs142967546, rs766074609, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs758004953, rs766935302, rs886058900, rs1057516189, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516793, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057517405, rs1057516994, rs1057517315, rs1057516529, rs1057517001, rs1057517058, rs1057517067, rs1057516598, rs753181427, rs1057517442, rs747513238, rs752848974, rs1057516259, rs1057516612, rs749560316, rs1057516468, rs1057517400, rs752851284, rs1057516329, rs1057516629, rs1057517145, rs1057517361, rs1057516349, rs772194378, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs1057516215, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs377544304, rs1057516826, rs1057517105, rs753269119, rs778418246, rs1057516928, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs780883601, rs775685508, rs751952198, rs148842275, rs766733439, rs1064795728, rs1064795749, rs1064796703, rs1064794288, rs375470378, rs1064796706, rs1064797157, rs764567774, rs145166656, rs767409395, rs150911354, rs757681143, rs200483245, rs771069887, rs114073621, rs1553690406, rs774465102, rs758504480, rs143670942, rs1422043936, rs373517016, rs1553188832, rs771853367, rs1553185403, rs12118058, rs1553193463, rs370247862, rs1555602832, rs1555560204, rs1555603264, rs61736895, rs763016962, rs1556016365, rs1555601828, rs991082382, rs1555599713, rs1555136390, rs754134578, rs752002666, rs1553183220, rs1307281520, rs1479740763, rs1555989523, rs1555600102, rs142917638, rs1553185302, rs1553684545, rs1555601234, rs373345919, rs1553183359, rs1556014969, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs1555467052, rs1555467557, rs748363083, rs763027848, rs1555600730, rs1555598796, rs1555988479, rs1556000892, rs1556007472, rs1556002344, rs764591009, rs769172044, rs1555328280, rs1354714214, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1553184657, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1555133248, rs1462767117, rs1555136752, rs1163710370, rs1555136208, rs1555136540, rs750857876, rs1555136459, rs187131358, rs1555559741, rs1411037881, rs1485038937, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555600050, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs770780848, rs1555601780, rs765362308, rs1209887739, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555558920, rs1457925404, rs1555598800, rs1207988953, rs1555599667, rs1555600061, rs1434761678, rs759518659, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1555995635, rs1567825175, rs1567705064, rs1567838823, rs1559637815, rs1557794150, rs756175624, rs146195866, rs781511110, rs759657964, rs1563131309, rs746120293, rs746348793, rs770037766, rs1270523244, rs1567706564, rs1567260747, rs201056962, rs764539267, rs765718882, rs1568619900, rs1569298646, rs1569344469, rs1567828977, rs561646250, rs1569297379, rs1210626722, rs1569300538, rs1256371424, rs747947171, rs1565538121, rs1565536363, rs1569297427, rs1567830317, rs764750389, rs1555603219, rs1567829962, rs1430517061, rs1205507761, rs149244943, rs748262135, rs1556299510, rs780246932, rs752961445, rs1315020035, rs767095759, rs756205397, rs149096315, rs1242540921, rs371296953, rs1303617854, rs766536350, rs1414146587, rs1567835775, rs1567835781, rs1570433472, rs1570508240, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1592412131, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs777589783, rs768604948, rs1592410003, rs1592818641, rs760187622, rs539898848, rs755612674, rs1597988331, rs775826449, rs1232001857, rs200210219, rs1598575231, rs141533320, rs1598582021, rs764670084, rs1448515860, rs886043882, rs1601685358, rs1601689006, rs1601739229, rs1601781024, rs1601781031, rs539203557, rs1212333772, rs372079212, rs765425704, rs776545903, rs1597989985, rs1598592604, rs1597989983, rs1556257317, rs1475559733, rs1598577666, rs1598580364, rs1596687577, rs1372753669, rs1601714299, rs1601747985, rs1601776276, rs1601760689, rs1601763099, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1576183537, rs1592408302, rs1592409633, rs150483902, rs1596687555, rs762089284, rs1597990895, rs1597990906, rs1597991608, rs1597991733, rs1601687244, rs1601748216, rs1601776523, rs1571243862, rs1592409631, rs1601780766, rs2039275157, rs2039287628, rs1567702823, rs756632286, rs1597990921, rs1576137368, rs1322527832, rs1596047883, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1703086906, rs781198373, rs1703800818, rs1490328834, rs1804721948, rs1311913891, rs2058363627, rs1005687078, rs2058388882, rs2058407169, rs2058421657, rs138893744, rs758943884, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs766398206, rs2039287852, rs2047467477, rs2047492649, rs2047492720, rs765360653, rs111911126, rs1219299972, rs2047834385, rs2039261208, rs1262967083, rs2047514376, rs2048391185, rs2058357329, rs1598580407, rs2039250790, rs755305465, rs766448695 8447317, 27612597, 10545043, 28779239, 19273759
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Renal insufficiency Renal Insufficiency rs1596536873
Unknown
Disease name Disease term dbSNP ID References
Prostatic neoplasms Prostatic Neoplasms 17013881

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