Entity Details

Primary name GSX2
Entity type gene
Source Source Link

Details

PrimaryID170825
RefseqGene
SymbolGSX2
NameGS homeobox 2
Chromosome4
Location4q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-02-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGSX2_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0002087 regulation of respiratory gaseous exchange by nervous system process
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0021527 spinal cord association neuron differentiation
GO:0021575 hindbrain morphogenesis
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021889 olfactory bulb interneuron differentiation
GO:0021978 telencephalon regionalization
GO:0030334 regulation of cell migration
GO:0045747 positive regulation of Notch signaling pathway
GO:0048665 neuron fate specification
GO:0048714 positive regulation of oligodendrocyte differentiation
GO:0048853 forebrain morphogenesis
GO:0060163 subpallium neuron fate commitment
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618646 OMIMDiencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2)An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
GSX2ABL1IntAct17474147 details