GSX2 - GS homeobox 2 Gene

Also Known as GSH2; DMJDS2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 170825

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 References 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 References 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

Homeobox: Homeobox domain (203 - 259)

  • 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

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 Set / 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
Others GSX2 NCBI