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Aliases for GBX2 Gene

Aliases for GBX2 Gene

  • Gastrulation Brain Homeobox 2 2 3 5
  • Gastrulation And Brain-Specific Homeobox Protein 2 4
  • Gastrulation Brain Homeo Box 2 2

External Ids for GBX2 Gene

Previous GeneCards Identifiers for GBX2 Gene

  • GC02M235112
  • GC02M235755
  • GC02M237090
  • GC02M237361
  • GC02M236856
  • GC02M236739
  • GC02M228868

Summaries for GBX2 Gene

GeneCards Summary for GBX2 Gene

GBX2 (Gastrulation Brain Homeobox 2) is a Protein Coding gene. Diseases associated with GBX2 include Velocardiofacial Syndrome. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for GBX2 Gene

  • May act as a transcription factor for cell pluripotency and differentiation in the embryo.

Gene Wiki entry for GBX2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBX2 Gene

Genomics for GBX2 Gene

Regulatory Elements for GBX2 Gene

Enhancers for GBX2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GBX2 on UCSC Golden Path with GeneCards custom track

Promoters for GBX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GBX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GBX2 Gene

236,165,236 bp from pter
236,168,369 bp from pter
3,134 bases
Minus strand

Genomic View for GBX2 Gene

Genes around GBX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBX2 Gene

Proteins for GBX2 Gene

  • Protein details for GBX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein GBX-2
    Protein Accession:
    Secondary Accessions:
    • B2RPH7
    • O43833
    • Q53RX5
    • Q9Y5Y1

    Protein attributes for GBX2 Gene

    348 amino acids
    Molecular mass:
    37348 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GBX2 Gene

Proteomics data for GBX2 Gene at MOPED

Post-translational modifications for GBX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GBX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GBX2 Gene

Domains & Families for GBX2 Gene

Gene Families for GBX2 Gene

Protein Domains for GBX2 Gene

Suggested Antigen Peptide Sequences for GBX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with GBX2: view

Function for GBX2 Gene

Molecular function for GBX2 Gene

GENATLAS Biochemistry:
mouse telencephalon expressed Gbx homolog 2,gastrulation and brain specific-1,homeo domain encoding gene
UniProtKB/Swiss-Prot Function:
May act as a transcription factor for cell pluripotency and differentiation in the embryo.

Gene Ontology (GO) - Molecular Function for GBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GBX2: view
genes like me logo Genes that share phenotypes with GBX2: view

Animal Models for GBX2 Gene

MGI Knock Outs for GBX2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GBX2 Gene

Localization for GBX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBX2 Gene

Subcellular locations from

Jensen Localization Image for GBX2 Gene COMPARTMENTS Subcellular localization image for GBX2 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for GBX2 Gene

Pathways & Interactions for GBX2 Gene

genes like me logo Genes that share pathways with GBX2: view

Pathways by source for GBX2 Gene

Interacting Proteins for GBX2 Gene

Gene Ontology (GO) - Biological Process for GBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 patterning of blood vessels IEA --
GO:0001755 neural crest cell migration IEA --
GO:0008283 cell proliferation IEA --
GO:0021549 cerebellum development IEA --
GO:0021555 midbrain-hindbrain boundary morphogenesis IEA --
genes like me logo Genes that share ontologies with GBX2: view

No data available for SIGNOR curated interactions for GBX2 Gene

Drugs & Compounds for GBX2 Gene

(1) Additional Compounds for GBX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GBX2: view

Transcripts for GBX2 Gene

mRNA/cDNA for GBX2 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GBX2 Gene

Gastrulation brain homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GBX2 Gene

No ASD Table

Relevant External Links for GBX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GBX2 Gene

mRNA expression in normal human tissues for GBX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GBX2 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x12.9), Brain - Caudate (basal ganglia) (x8.4), Brain - Spinal cord (cervical c-1) (x7.1), Brain - Nucleus accumbens (basal ganglia) (x5.0), and Brain - Hypothalamus (x4.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GBX2 Gene

SOURCE GeneReport for Unigene cluster for GBX2 Gene Hs.184945

genes like me logo Genes that share expression patterns with GBX2: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GBX2 Gene

Orthologs for GBX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GBX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GBX2 35
  • 94.92 (n)
  • 98.56 (a)
GBX2 36
  • 98 (a)
(Canis familiaris)
Mammalia GBX2 35
  • 95.11 (n)
  • 99.14 (a)
GBX2 36
  • 99 (a)
(Mus musculus)
Mammalia Gbx2 35
  • 92.05 (n)
  • 98.28 (a)
Gbx2 16
Gbx2 36
  • 98 (a)
(Pan troglodytes)
Mammalia GBX2 35
  • 99.81 (n)
  • 99.71 (a)
GBX2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Gbx2 35
  • 92.05 (n)
  • 97.7 (a)
(Monodelphis domestica)
Mammalia GBX2 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia GBX2 36
  • 88 (a)
(Gallus gallus)
Aves GBX2 35
  • 77.25 (n)
  • 75.37 (a)
GBX2 36
  • 79 (a)
(Anolis carolinensis)
Reptilia GBX2 36
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gbx2 35
  • 73.69 (n)
  • 82.49 (a)
Str.10703 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397824 35
(Danio rerio)
Actinopterygii gbx2 35
  • 68.73 (n)
  • 73.16 (a)
gbx2 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta unpg 37
  • 78 (a)
unpg 36
  • 29 (a)
(Caenorhabditis elegans)
Secernentea ceh-12 36
  • 32 (a)
Species with no ortholog for GBX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for GBX2 Gene

Gene Tree for GBX2 (if available)
Gene Tree for GBX2 (if available)

Paralogs for GBX2 Gene

(4) SIMAP similar genes for GBX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GBX2: view

Variants for GBX2 Gene

Sequence variations from dbSNP and Humsavar for GBX2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs13031166 -- 236,167,390(+) CGGCG(A/C)TGGCC intron-variant
rs6709943 -- 236,166,786(+) GGGTG(A/G)GGACT intron-variant
rs10183276 -- 236,169,250(+) CACGT(C/T)GCGAA upstream-variant-2KB
rs56046275 -- 236,169,057(+) CTTTG(C/T)CAGCG upstream-variant-2KB
rs10209196 -- 236,167,330(+) CTCCT(A/C)CCGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GBX2 Gene

Variant ID Type Subtype PubMed ID
esv2751845 CNV Gain 17911159
esv33938 CNV Loss 17666407
dgv4456n71 CNV Loss 21882294
nsv821922 CNV Gain 20364138
nsv876036 CNV Loss 21882294
nsv821923 CNV Gain 20364138
nsv525913 CNV Loss 19592680
nsv821924 CNV Gain 20364138

Variation tolerance for GBX2 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.39; 42.29% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GBX2 Gene

Disorders for GBX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GBX2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GBX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GBX2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GBX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GBX2 Gene

Publications for GBX2 Gene

  1. Characterization and sequence analysis of the human homeobox- containing gene GBX2. (PMID: 8838315) Lin X. … Leckman J.F. (Genomics 1996) 2 3 4 23 67
  2. Enhanced GBX2 expression stimulates growth of human prostate cancer cells via transcriptional up-regulation of the interleukin 6 gene. (PMID: 10690529) Gao A.C. … Isaacs J.T. (Clin. Cancer Res. 2000) 3 23
  3. Down-regulation of homeobox gene GBX2 expression inhibits human prostate cancer clonogenic ability and tumorigenicity. (PMID: 9537237) Gao A.C. … Isaacs J.T. (Cancer Res. 1998) 3 23
  4. The homeobox gene GBX2, a target of the myb oncogene, mediates autocrine growth and monocyte differentiation. (PMID: 9346236) Kowenz-Leutz E. … Leutz A. (Cell 1997) 2 3
  5. The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans. (PMID: 7903253) Matsui T. … Kurosawa Y. (FEBS Lett. 1993) 3 23

Products for GBX2 Gene

Sources for GBX2 Gene