abnormal glycogen homeostasis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle (Mammalian Phenotype Ontology, MP_0005438)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005438
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Genes

98 gene mutations causing the abnormal glycogen homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ACACB acetyl-CoA carboxylase beta
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADRA1B adrenoceptor alpha 1B
AFP alpha-fetoprotein
ATXN2 ataxin 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CD36 CD36 molecule (thrombospondin receptor)
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CKM creatine kinase, muscle
CREBBP CREB binding protein
CRTC2 CREB regulated transcription coactivator 2
CTHRC1 collagen triple helix repeat containing 1
CXADR coxsackie virus and adenovirus receptor
DFNB31 deafness, autosomal recessive 31
DGAT2 diacylglycerol O-acyltransferase 2
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPM2AIP1 EPM2A (laforin) interacting protein 1
FABP3 fatty acid binding protein 3, muscle and heart
FGF21 fibroblast growth factor 21
FNIP1 folliculin interacting protein 1
FOXO1 forkhead box O1
FSTL1 follistatin-like 1
FSTL3 follistatin-like 3 (secreted glycoprotein)
G6PC glucose-6-phosphatase, catalytic subunit
GAA glucosidase, alpha; acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GCKR glucokinase (hexokinase 4) regulator
GJB1 gap junction protein, beta 1, 32kDa
GNMT glycine N-methyltransferase
GRB10 growth factor receptor-bound protein 10
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGB1 high mobility group box 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IL6ST interleukin 6 signal transducer
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IRS2 insulin receptor substrate 2
KLF15 Kruppel-like factor 15
LEPR leptin receptor
LIFR leukemia inhibitory factor receptor alpha
LIPE lipase, hormone-sensitive
LPIN1 lipin 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MARK3 MAP/microtubule affinity-regulating kinase 3
MGAM maltase-glucoamylase
MIR122 microRNA 122
MLXIPL MLX interacting protein-like
NCOA3 nuclear receptor coactivator 3
NCOR1 nuclear receptor corepressor 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NPY1R neuropeptide Y receptor Y1
NR1H2 nuclear receptor subfamily 1, group H, member 2
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSMR oncostatin M receptor
PCCA propionyl CoA carboxylase, alpha polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PEX11B peroxisomal biogenesis factor 11 beta
PFKM phosphofructokinase, muscle
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHOX2A paired-like homeobox 2a
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PITPNA phosphatidylinositol transfer protein, alpha
PLAU plasminogen activator, urokinase
PNPLA2 patatin-like phospholipase domain containing 2
PPARA peroxisome proliferator-activated receptor alpha
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAGA Ras-related GTP binding A
SAMD4A sterile alpha motif domain containing 4A
SC5D sterol-C5-desaturase
SCG5 secretogranin V
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
STK40 serine/threonine kinase 40
TBC1D4 TBC1 domain family, member 4
TUB tubby bipartite transcription factor
TWIST2 twist family bHLH transcription factor 2
ZBTB20 zinc finger and BTB domain containing 20