GSX2 (GS homeobox 2)

Gene

• Entrez ID: 170825
• Gene name: GS homeobox 2
• Gene symbol: GSX2
• Synonyms (NCBI Gene): DMJDS2, GSH2
• Chromosome: 4
• Chromosome location: 4q12

SNPs

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)

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
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	31412107
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	31412107
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021544	Process	Subpallium development	IEA
GO:0021575	Process	Hindbrain morphogenesis	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021889	Process	Olfactory bulb interneuron differentiation	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048699	Process	Generation of neurons	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0060163	Process	Subpallium neuron fate commitment	IEA
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 616253
• HGNC: 24959
• e!Ensembl: ENSG00000180613

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIENCEPHALIC MESENCEPHALIC JUNCTION DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diencephalic-mesencephalic junction dysplasia syndrome 2	Benign; no classifications from unflagged records	ClinVar ClinGen, ClinVar, Disgenet, HPO ClinGen, ClinVar, Disgenet, HPO ClinGen, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GSX2-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	31412107	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29794476	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25268357		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25268357		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29794476		★☆☆☆☆ Found in Text Mining only