GSX2 (GS homeobox 2)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
170825
Gene name Gene Name - the full gene name approved by the HGNC.
GS homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GSX2
Synonyms (NCBI Gene) Gene synonyms aliases
DMJDS2, GSH2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DMJDS2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
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
GO:0002087 Process Regulation of respiratory gaseous exchange by nervous system process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616253 24959 ENSG00000180613
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Familial rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)		 11796754
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 11796754
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Uterine Fibroids Uterine Fibroids GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Basal Ganglia Diseases Associate 31412107
Glioma Associate 29794476
Neoplasms Associate 20233874
Putaminal Hemorrhage Associate 31412107