Aliases for GSX2 Gene

Aliases for GSX2 Gene

  • GS Homeobox 2 2 3 4 5
  • Genetic-Screened Homeobox 2 3 4
  • Homeobox Protein GSH-2 3 4
  • GSH2 3 4
  • DMJDS2 3
  • GSX2 5
  • Gsh2 2

External Ids for GSX2 Gene

Previous GeneCards Identifiers for GSX2 Gene

  • GC04P054661
  • GC04P054966
  • GC04P050913

Summaries for GSX2 Gene

GeneCards Summary for GSX2 Gene

GSX2 (GS Homeobox 2) is a Protein Coding gene. Diseases associated with GSX2 include Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 and Diencephalic-Mesencephalic Junction Dysplasia. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXA2.

UniProtKB/Swiss-Prot Summary for GSX2 Gene

  • 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 progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSX2 Gene

Genomics for GSX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSX2

Top Transcription factor binding sites by QIAGEN in the GSX2 gene promoter:
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • Nkx2-2
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • ZID

Genomic Locations for GSX2 Gene

Genomic Locations for GSX2 Gene
chr4:54,099,523-54,102,498
(GRCh38/hg38)
Size:
2,976 bases
Orientation:
Plus strand
chr4:54,965,690-54,968,672
(GRCh37/hg19)
Size:
2,983 bases
Orientation:
Plus strand

Genomic View for GSX2 Gene

Genes around GSX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSX2 Gene

Proteins for GSX2 Gene

  • Protein details for GSX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZM3-GSX2_HUMAN
    Recommended name:
    GS homeobox 2
    Protein Accession:
    Q9BZM3

    Protein attributes for GSX2 Gene

    Size:
    304 amino acids
    Molecular mass:
    32031 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GSX2 Gene

Post-translational modifications for GSX2 Gene

No Post-translational modifications

Other Protein References for GSX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSX2 Gene

Domains & Families for GSX2 Gene

Gene Families for GSX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GSX2 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for GSX2 Gene

GenScript: Design optimal peptide antigens:
  • GS homeobox 2 (B2LYG3_HUMAN)
  • Homeobox protein GSH-2 (GSX2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZM3

UniProtKB/Swiss-Prot:

GSX2_HUMAN :
  • Belongs to the Antp homeobox family.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with GSX2: view

Function for GSX2 Gene

Molecular function for GSX2 Gene

UniProtKB/Swiss-Prot 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 progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity).

Phenotypes From GWAS Catalog for GSX2 Gene

Gene Ontology (GO) - Molecular Function for GSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IBA 21873635
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GSX2: view
genes like me logo Genes that share phenotypes with GSX2: view

Animal Models for GSX2 Gene

MGI Knock Outs for GSX2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSX2 Gene

Localization for GSX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSX2 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSX2 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IMP 31412107
GO:0005737 cytoplasm IMP 31412107
genes like me logo Genes that share ontologies with GSX2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSX2 Gene

Pathways & Interactions for GSX2 Gene

PathCards logo

SuperPathways for GSX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007389 pattern specification process IEA --
genes like me logo Genes that share ontologies with GSX2: view

No data available for Pathways by source and SIGNOR curated interactions for GSX2 Gene

Drugs & Compounds for GSX2 Gene

No Compound Related Data Available

Transcripts for GSX2 Gene

mRNA/cDNA for GSX2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSX2

Alternative Splicing Database (ASD) splice patterns (SP) for GSX2 Gene

No ASD Table

Relevant External Links for GSX2 Gene

GeneLoc Exon Structure for
GSX2

Expression for GSX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSX2 Gene

mRNA differential expression in normal tissues according to GTEx for GSX2 Gene

This gene is overexpressed in Brain - Amygdala (x6.9), Brain - Putamen (basal ganglia) (x5.2), and Brain - Caudate (basal ganglia) (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSX2

SOURCE GeneReport for Unigene cluster for GSX2 Gene:

Hs.371899

Evidence on tissue expression from TISSUES for GSX2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with GSX2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSX2 Gene

Orthologs for GSX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GSX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSX2 30 31
  • 99.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GSX2 30 31
  • 89.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsx2 30
  • 85.48 (n)
Mouse
(Mus musculus)
Mammalia Gsx2 30 17 31
  • 85.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GSX2 31
  • 85 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GSX2 30 31
  • 84.13 (n)
OneToOne
Chicken
(Gallus gallus)
Aves GSX2 30
  • 77.63 (n)
Lizard
(Anolis carolinensis)
Reptilia GSX2 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gsx2 30
  • 71.23 (n)
Zebrafish
(Danio rerio)
Actinopterygii gsx2 30 31
  • 69.71 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta ind 31
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for GSX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GSX2 Gene

ENSEMBL:
Gene Tree for GSX2 (if available)
TreeFam:
Gene Tree for GSX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSX2: view image

Paralogs for GSX2 Gene

(6) SIMAP similar genes for GSX2 Gene using alignment to 3 proteins:

  • GSX2_HUMAN
  • B2LYG3_HUMAN
  • D6R903_HUMAN
genes like me logo Genes that share paralogs with GSX2: view

Variants for GSX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSX2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
694062 Pathogenic: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 54,100,370(+) C/A NONSENSE
694063 Pathogenic: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 54,101,759(+) A/G MISSENSE_VARIANT
VAR_083533 Diencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2) [MIM:618646] p.Gln251Arg
rs13144341 - p.Gly107Ser

Additional dbSNP identifiers (rs#s) for GSX2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GSX2 Gene

Variant ID Type Subtype PubMed ID
dgv9049n54 CNV loss 21841781

Variation tolerance for GSX2 Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSX2 Gene

Disorders for GSX2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GSX2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diencephalic-mesencephalic junction dysplasia syndrome 2
  • dmjds2
diencephalic-mesencephalic junction dysplasia
  • diencephalic-mesencephalic junction dysplasia syndrome
atrophy of testis
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search GSX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GSX2_HUMAN
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2) [MIM:618646]: An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. {ECO:0000269 PubMed:31412107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with GSX2: view

No data available for Genatlas for GSX2 Gene

Publications for GSX2 Gene

  1. 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). (PMID: 11861295) Cools J … Marynen P (Blood 2002) 2 3 23
  2. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. (PMID: 31412107) De Mori R … Valente EM (Brain : a journal of neurology 2019) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect. (PMID: 12205114) Dauwerse JG … Peters DJ (Journal of medical genetics 2002) 2 3
  5. Integrative Analysis of DNA Methylation and Gene Expression Identify a Three-Gene Signature for Predicting Prognosis in Lower-Grade Gliomas. (PMID: 29794476) Zeng WJ … Chen XP (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018) 3

Products for GSX2 Gene

Sources for GSX2 Gene