GSX2 GS homeobox 2 [Homo sapiens (human)] - Gene

Summary

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 generation of neurons; olfactory bulb development; and 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 positive regulation of oligodendrocyte differentiation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (54100163..54102498)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (57587414..57589749)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (54966330..54968665)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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).

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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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480803

NoName (e-PCR)
- UniSTS:482364

NoName (e-PCR)
- UniSTS:486007

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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
acts_upstream_of_or_within GABAergic neuron differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within brain development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within central nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within forebrain dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within forebrain morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in generation of neurons	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hindbrain morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron fate commitment	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron fate specification	IEA Inferred from Electronic Annotation more info
involved_in olfactory bulb development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within olfactory bulb interneuron differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pattern specification process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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
acts_upstream_of_or_within spinal cord association neuron differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within subpallium development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within subpallium neuron fate commitment	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within telencephalon regionalization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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)

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