Rett syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
Description A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. (Human Disease Ontology, DOID_1206)
External Link https://www.wikipathways.org/pathways/WP4312.html
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Genes

48 proteins participating in the Rett syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ACTL6B actin-like 6B
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDKL5 cyclin-dependent kinase-like 5
CECR2 cat eye syndrome chromosome region, candidate 2
CHD4 chromodomain helicase DNA binding protein 4
CRK v-crk avian sarcoma virus CT10 oncogene homolog
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
FOXG1 forkhead box G1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPS2 G protein pathway suppressor 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HAP1 huntingtin-associated protein 1
HDAC1 histone deacetylase 1
HDAC5 histone deacetylase 5
HDAC8 histone deacetylase 8
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2
HTT huntingtin
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KDM5B lysine (K)-specific demethylase 5B
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
NCOR1 nuclear receptor corepressor 1
NCOR2 nuclear receptor corepressor 2
RHOBTB2 Rho-related BTB domain containing 2
SATB2 SATB homeobox 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SHANK3 SH3 and multiple ankyrin repeat domains 3
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMC1A structural maintenance of chromosomes 1A
SRRM3 serine/arginine repetitive matrix 3
STXBP1 syntaxin binding protein 1
SYNE2 spectrin repeat containing, nuclear envelope 2
SYNGAP1 synaptic Ras GTPase activating protein 1
TAF1B TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa
TBL1X transducin (beta)-like 1X-linked
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TCF4 transcription factor 4
TRRAP transformation/transcription domain-associated protein
XAB2 XPA binding protein 2