GSX2 - GS homeobox 2 Gene

Homo sapiens

Also known as GSH2; DMJDS2

Gene ID: 170825 | Gene type: protein coding

About GSX2

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:54,100,163-54,102,498 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues, 42 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of Notch signaling pathway; and regulation of respiratory gaseous exchange by nervous system process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

GSX2 Products(1)

mRNA	Protein	Name
NM_133267.3	NP_573574.2	GS homeobox 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	31412107	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	31412107	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	31412107	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GSX2 Protein Structure

Homeobox

0
100
200
304 a.a.

Protein Preferred Names

Protein Names

GS homeobox 2

genetic-screened homeobox 2

Related Diseases

Diseases

Alias

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

DMJDS2

Spastic Tetraparesis, Dystonia, Developmental Delay, And Structural Abnormalities Of The Basal Ganglia

Diencephalic-Mesencephalic Junction Dysplasia

Diencephalic-Mesencephalic Junction Dysplasia Syndrome

Alcohol-Related Birth Defects

Arbd	Alcohol-Related Birth Defect
Alcohol Related Birth Defect	Fetal Alcohol Syndrome

Atrophy Of Testis

Atrophic Testicle	Atrophy Of Testicle
Testicular Atrophy

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05891	GSX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GSX2	VGNC	VGNC:41539
Mus musculus	GSX2	MGD	MGI:95843
Bos taurus	GSX2	VGNC	VGNC:29689
Macaca mulatta	GSX2	VGNC	VGNC:106589
Rattus norvegicus	GSX2	RGD	RGD:1308047
Felis catus	GSX2	VGNC	VGNC:62733

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