Fragile X syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
Description A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. (Human Disease Ontology, DOID_14261)
External Link https://www.wikipathways.org/pathways/WP4549.html
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Genes

122 proteins participating in the Fragile X syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
AGO2 argonaute RISC catalytic component 2
AKAP5 A kinase (PRKA) anchor protein 5
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT1S1 AKT1 substrate 1 (proline-rich)
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
AP2A1 adaptor-related protein complex 2, alpha 1 subunit
AP2B1 adaptor-related protein complex 2, beta 1 subunit
AP2M1 adaptor-related protein complex 2, mu 1 subunit
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APP amyloid beta (A4) precursor protein
ARAF A-Raf proto-oncogene, serine/threonine kinase
ARC activity-regulated cytoskeleton-associated protein
ARHGAP32 Rho GTPase activating protein 32
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAMK1 calcium/calmodulin-dependent protein kinase I
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAMK2B calcium/calmodulin-dependent protein kinase II beta
CAMK4 calcium/calmodulin-dependent protein kinase IV
CDKN2A cyclin-dependent kinase inhibitor 2A
CLTA clathrin, light chain A
CLTB clathrin, light chain B
CLTC clathrin, heavy chain (Hc)
CLTCL1 clathrin, heavy chain-like 1
CNR1 cannabinoid receptor 1 (brain)
CPT1A carnitine palmitoyltransferase 1A (liver)
CREB1 cAMP responsive element binding protein 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYFIP2 cytoplasmic FMR1 interacting protein 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DEPTOR DEP domain containing MTOR-interacting protein
DICER1 dicer 1, ribonuclease type III
DLG4 discs, large homolog 4 (Drosophila)
DLGAP3 discs, large (Drosophila) homolog-associated protein 3
DNM1 dynamin 1
DNM2 dynamin 2
DUSP3 dual specificity phosphatase 3
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
EIF4A1 eukaryotic translation initiation factor 4A1
EIF4E eukaryotic translation initiation factor 4E
EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
EPHA4 EPH receptor A4
EPS8L1 EPS8-like 1
FMR1 fragile X mental retardation 1
FYN FYN proto-oncogene, Src family tyrosine kinase
GAB1 GRB2-associated binding protein 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GPHN gephyrin
GRB2 growth factor receptor-bound protein 2
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRIP1 glutamate receptor interacting protein 1
GRIP2 glutamate receptor interacting protein 2
GRM1 glutamate receptor, metabotropic 1
GRM5 glutamate receptor, metabotropic 5
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HOMER1 homer scaffolding protein 1
HOXB8 homeobox B8
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KRAS Kirsten rat sarcoma viral oncogene homolog
MAP1B microtubule-associated protein 1B
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MECP2 methyl CpG binding protein 2
MKNK1 MAP kinase interacting serine/threonine kinase 1
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MMP9 matrix metallopeptidase 9
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NF1 neurofibromin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PICK1 protein interacting with PRKCA 1
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCG1 phospholipase C, gamma 1
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme
PPP2R5B protein phosphatase 2, regulatory subunit B', beta
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAP1GAP RAP1 GTPase activating protein
RHEB Ras homolog enriched in brain
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RPTOR regulatory associated protein of MTOR, complex 1
SH3GL1 SH3-domain GRB2-like 1
SH3GL3 SH3-domain GRB2-like 3
SHANK1 SH3 and multiple ankyrin repeat domains 1
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SOS1 son of sevenless homolog 1 (Drosophila)
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SYNGAP1 synaptic Ras GTPase activating protein 1
TARBP2 TAR (HIV-1) RNA binding protein 2
TBC1D7 TBC1 domain family, member 7
TBC1D7-LOC100130357 TBC1D7-LOC100130357 readthrough
TECR trans-2,3-enoyl-CoA reductase
TELO2 telomere maintenance 2
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTI1 TELO2 interacting protein 1