Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q12

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

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
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

MIM	HGNC	e!Ensembl
616253	24959	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

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Basal Ganglia Diseases	Associate	31412107
Glioma	Associate	29794476
Neoplasms	Associate	20233874
Putaminal Hemorrhage	Associate	31412107

GSX2 (GS homeobox 2)