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GSX2 GS homeobox 2 [ Homo sapiens (human) ]

Gene ID: 170825, updated on 5-Mar-2024

Summary

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Official Symbol
GSX2provided by HGNC
Official Full Name
GS homeobox 2provided by HGNC
Primary source
HGNC:HGNC:24959
See related
Ensembl:ENSG00000180613 MIM:616253; AllianceGenome:HGNC:24959
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSH2; DMJDS2
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]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See GSX2 in Genome Data Viewer
Location:
4q12
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (54100163..54102498)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (57587414..57589749)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (54966330..54968665)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 44 Neighboring gene VISTA enhancer hs687 Neighboring gene cysteine rich hydrophobic domain 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:54930180-54930680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15433 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:54932677-54933876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54959191-54959810 Neighboring gene mortality factor 4 like 2 pseudogene 1 Neighboring gene VISTA enhancer hs678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54966174-54966964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54966965-54967756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54967757-54968546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54969378-54970153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54970154-54970928 Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:55008059-55008277 Neighboring gene uncharacterized LOC124900925

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Silencing GS Homeobox 2 Alleviates Gemcitabine Resistance in Pancreatic Cancer Cells by Activating SHH/GLI1 Signaling Pathway. Zhuang L, et al. Dig Dis Sci, 2022 Aug. PMID 34623580
  2. 4q12 translocations with GSX2 expression identify a CD7(+) acute myeloid leukaemia subset. Di Giacomo D, et al. Br J Haematol, 2015 Oct. PMID 25816740
  3. The homeobox gene Gsx2 regulates the self-renewal and differentiation of neural stem cells and the cell fate of postnatal progenitors. Méndez-Gómez HR, et al. PLoS One, 2012. PMID 22242181, Free PMC Article
  4. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. De Mori R, et al. Brain, 2019 Oct 1. PMID 31412107, Free PMC Article
  5. Differentiation of human telencephalic progenitor cells into MSNs by inducible expression of Gsx2 and Ebf1. Faedo A, et al. Proc Natl Acad Sci U S A, 2017 Feb 14. PMID 28137879, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Silencing GS Homeobox 2 Alleviates Gemcitabine Resistance in Pancreatic Cancer Cells by Activating SHH/GLI1 Signaling Pathway.
    Title: Silencing GS Homeobox 2 Alleviates Gemcitabine Resistance in Pancreatic Cancer Cells by Activating SHH/GLI1 Signaling Pathway.
  2. This study identified and validated a three-gene (EMP3, GSX2 and EMILIN3) prognostic signature in Lower-Grade Gliomas.
    Title: Integrative Analysis of DNA Methylation and Gene Expression Identify a Three-Gene Signature for Predicting Prognosis in Lower-Grade Gliomas.
  3. Data show that GS Homeobox 2 (Gsx2) and Early B-cell factor 1 (Ebf1) combined overexpression in human embryonic stem (hES) cells achieves high yields of medium spiny neurons (MSNs).
    Title: Differentiation of human telencephalic progenitor cells into MSNs by inducible expression of Gsx2 and Ebf1.
  4. 4q12 translocations with GSX2 expression identify a CD7(+) acute myeloid leukaemia subset.
    Title: 4q12 translocations with GSX2 expression identify a CD7(+) acute myeloid leukaemia subset.
  5. Gsx2 negatively regulates neurogenesis from postnatal progenitor cells.
    Title: The homeobox gene Gsx2 regulates the self-renewal and differentiation of neural stem cells and the cell fate of postnatal progenitors.
  6. Transgenic mice lacking microRNAs miR-9-2 and miR-9-3 exhibit multiple defects of telencephalic structures which may be brought about by dysregulation of Foxg1, Nr2e1, Gsh2, and Meis2 expression.
    Title: MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors.
  7. Gsx2 specifies striatal projection neuron and olfactory bulb interneuron identity at distinct time points during neurogenesis in transgenic mice.
    Title: Distinct temporal requirements for the homeobox gene Gsx2 in specifying striatal and olfactory bulb neuronal fates.
  8. ectopically expressed in myeloid leukemic cells with t(4;12)(q11-q12;p13), suggesting that expression of GSH2 was deregulated by the translocation, indicating a variant leukemogenic mechanism for translocations involving the 5' end of ETV6
    Title: Evidence for position effects as a variant ETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11-q12;p13) or t(5;12)(q31;p13).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Diencephalic-mesencephalic junction dysplasia syndrome 2
MedGen: C5231440 OMIM: 618646 GeneReviews: Not available
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EBI GWAS Catalog

Description
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables sequence-specific double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in GABAergic neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in forebrain dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
  
involved_in forebrain morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in hindbrain morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron fate specification IEA
Inferred from Electronic Annotation
more info
  
involved_in olfactory bulb interneuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of respiratory gaseous exchange by nervous system process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in spinal cord association neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in subpallium neuron fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in telencephalon regionalization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
GS homeobox 2
Names
genetic-screened homeobox 2
homeobox protein GSH-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_133267.3 → NP_573574.2  GS homeobox 2

    Status: VALIDATED

    Source sequence(s)
    AC110298
    Consensus CDS
    CCDS3494.1
    UniProtKB/Swiss-Prot
    Q9BZM3
    Related
    ENSP00000319118.2, ENST00000326902.7
    Conserved Domains (1) summary
    pfam00046
    Location:206 → 258
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    54100163..54102498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    57587414..57589749
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZM3.2 GenPept UniProtKB/Swiss-Prot:Q9BZM3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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