GSX2 (GS homeobox 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 170825
Gene name GS homeobox 2
Gene symbol GSX2
Synonyms (NCBI Gene)
DMJDS2GSH2
Chromosome 4
Chromosome location 4q12
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1578004339 C>A Pathogenic Coding sequence variant, stop gained
rs1578005344 A>G Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IMP 31412107
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616253 24959 ENSG00000180613
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZM3
Protein name GS homeobox 2 (Genetic-screened homeobox 2) (Homeobox protein GSH-2)
Protein 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 prog
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 203 → 259 Homeodomain Domain
Sequence 
MSRSFYVDSLIIKDTSRPAPSLPEPHPGPDFFIPLGMPPPLVMSVSGPGCPSRKSGAFCV
CPLCVTSHLHSSRGSVGAGSGGAGAGVTGAGGSGVAGAAGALPLLKGQFSSAPGDAQFCP
RVNHAHHHHHPPQHHHHHHQPQQPGSAAAAAAAAAAAAAAAALGHPQHHAPVCTATTYNV
ADPRRFHCLTMGGSDASQVPNGKRMRTAFTSTQLLELEREFSSNMYLSRLRRIEIATYLN
LSEKQVKIWFQNRRVKHKKEGKGTQRNSHAGCKCVGSQVHYARSEDEDSLSPASANDDKE
ISPL
Sequence length 304
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diencephalic-mesencephalic junction dysplasia syndrome 2 Benign; no classifications from unflagged records rs3194383, rs1132998, rs13144341, rs1578004339, rs1578005344 RCV001703120
RCV001703018
RCV001702203
RCV000855439
RCV000855440
GSX2-related disorder Likely benign rs1578004795 RCV003944353
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Basal Ganglia Diseases Associate 31412107
Glioma Associate 29794476
Neoplasms Associate 20233874
Putaminal Hemorrhage Associate 31412107