GSX2

GSX2
Identifiers
Aliases	GSX2, GSH2, GS homeobox 2, DMJDS2
External IDs	OMIM: 616253; MGI: 95843; HomoloGene: 15377; GeneCards: GSX2; OMA:GSX2 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q12 Start 54,099,523 bp[1] End 54,102,498 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 C3.3|5 39.55 cM Start 75,236,262 bp[2] End 75,238,554 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amygdala putamen caudate nucleus prefrontal cortex cingulate gyrus anterior cingulate cortex nucleus accumbens C1 segment tibial nerve Brodmann area 9 Top expressed in urethra female urethra medial ganglionic eminence male urethra Rostral migratory stream retinal pigment epithelium superior frontal gyrus ventricular zone mesencephalon thalamus More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component nucleus Biological process regulation of respiratory gaseous exchange by nervous system process olfactory bulb interneuron differentiation multicellular organism development regulation of cell migration telencephalon regionalization central nervous system development spinal cord association neuron differentiation neuron fate commitment regulation of transcription, DNA-templated hindbrain morphogenesis forebrain morphogenesis subpallium neuron fate commitment neuron fate specification pattern specification process positive regulation of oligodendrocyte differentiation transcription, DNA-templated positive regulation of Notch signaling pathway forebrain dorsal/ventral pattern formation brain development subpallium development regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 170825 14843 Ensembl ENSG00000180613 ENSMUSG00000035946 UniProt Q9BZM3 P31316 RefSeq (mRNA) NM_133267 NM_133256 RefSeq (protein) NP_573574 NP_573555 Location (UCSC) Chr 4: 54.1 – 54.1 Mb Chr 5: 75.24 – 75.24 Mb PubMed search [3] [4]
Wikidata
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GS homeobox 2 (GSX2) is a protein encoded by a gene of the same name, located on chromosome 4 in humans,^[5] and on chromosome 5 in mice.^[6]

It is especially important to regulating the development of the brain, particularly during embryonic development.^[7] Mutations have been linked to a variety of neurological disorders that can cause intellectual disability, dystonia (difficulty with movement) and seizures.^[8]

GSX2 is a polypeptide chain consisting of 304 amino acids, with a molecular weight of 32,031.^[9]

GSX2 is a homeobox transcription factor essential for mammalian forebrain development, particularly in specifying and patterning the basal ganglia.^[10][7] It binds specific DNA sequences, crucial for dorsal-ventral patterning of the telencephalon and specifying neural progenitors in the ventral forebrain.^[11][12]

GSX2 acts within a temporal framework, initially guiding the specification of striatal projection neurons during early lateral ganglionic eminence (LGE) neurogenesis, and later supporting olfactory bulb interneuron development.^[13] Mutations in GSX2 have been linked to basal ganglia dysgenesis in humans, resulting in severe neurological symptoms, including dystonia and intellectual impairment.^[10]

GSX2 is highly expressed in neural progenitors within the ganglionic eminences, precursors to the basal ganglia and olfactory structures. It promotes neurogenesis while inhibiting differentiation into oligodendrocytes, a type of glial cell in the central nervous system.^[7]

Mutations in GSX2 have been linked to severe neurodevelopmental disorders characterized by specific brain malformations. This includes cases of basal ganglia agenesis, leading to symptoms such as a slowly progressive decline in neurologic function, dystonia, and intellectual impairment.^[8]

A single nucleotide polymorphism and missense mutation in GSX2, rs1578004339, has been found to be a pathogenic cause of diencephalic-mesencephalic junction dysplasia syndrome, a neurodevelopmental disorder characterised by severe intellectual disability and seizures.^[8]