GSX2
entrez
170825
canonical
uniprot
Q9BZM3
canonical
ensembl
ENSG00000180613
resolver
ensp
ENSP00000319118
resolver
enst
ENST00000326902
resolver
genesymbol
GSX2
resolver
genesymbol_syn
GSH2
resolver
hgnc
HGNC:24959
resolver
uniprot
B2LYG3
resolver
uniprot_entry
B2LYG3_HUMAN
resolver
uniprot_entry
GSX2_HUMAN
resolver
amino_acid_sequence
MSRSFYVDSLIIKDTSRPAPSLPEPHPGPDFFIPLGMPPPLVMSVSGPGCPSRKSGAFCVCPLCVTSHLHSSRGSVGAGSGGAGAGVTGAGGSGVAGAAGALPLLKGQFSSAPGDAQFCPRVNHAHHHHHPPQHHHHHHQPQQPGSAAAAAAAAAAAAAAAALGHPQHHAPVCTATTYNVADPRRFHCLTMGGSDASQVPNGKRMRTAFTSTQLLELEREFSSNMYLSRLRRIEIATYLNLSEKQVKIWFQNRRVKHKKEGKGTQRNSHAGCKCVGSQVHYARSEDEDSLSPASANDDKEISPL
uniprot
proteins
disease_involvement
DISEASE: Diencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2) [MIM:618646]: 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. {ECO:0000269|PubMed:31412107}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that binds 5'-CNAATTAG-3' DNA sequence and regulates the expression of numerous genes including genes important for brain development (PubMed:31412107). During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). {ECO:0000250|UniProtKB:P31316, ECO:0000269|PubMed:31412107}.
uniprot
proteins
mass_dalton
32031
uniprot
proteins
protein_family
Antp homeobox family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
31412107
uniprot
proteins
sequence_length
304
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:31412107}. Cytoplasm {ECO:0000269|PubMed:31412107}.
uniprot
proteins