Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GBX2 Gene

Aliases for GBX2 Gene

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

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 Transcriptional Regulatory Network in Embryonic Stem Cell and Dopaminergic Neurogenesis. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is GBX1.

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

Additional gene information for GBX2 Gene

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

Genomics for GBX2 Gene

GeneHancer (GH) Regulatory Elements for GBX2 Gene

Promoters and enhancers for GBX2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J236166 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 650.7 0.0 0 3.9 ELF3 SIN3A RAD21 ZNF48 RARA YY1 ZNF335 GLIS2 EGR1 CREM ENSG00000233611 GBX2 GC02M236121 GC02M236211 RNU1-31P
GH02J235779 Enhancer 0.7 ENCODE 10.3 +388.8 388777 0.2 ELF3 CTCF IRF2 AHR ESRRA SIN3A ERF ZNF2 ZNF48 RBPJ GBX2 ENSG00000233611 LOC105373942 GC02P235753 PIR31730 AGAP1
GH02J236247 Enhancer 0.6 dbSUPER 10.2 -80.2 -80167 2.6 ELF3 SOX5 SOX13 FOXA2 FOXA3 BCL6 ZNF644 RARA GC02P236250 RNU1-31P GBX2 ENSG00000233611 ASB18 GC02M236211
GH02J236243 Enhancer 0.2 dbSUPER 10.2 -77.2 -77208 3.2 GBX2 ENSG00000233611 GC02P236250 ASB18 RNU1-31P GC02M236211
GH02J236177 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -11.0 -11033 3.8 RB1 SIN3A RAD21 ETS1 ZNF143 RCOR1 CREM THAP11 ZNF654 CEBPB ENSG00000233611 GBX2 RNU1-31P GC02M236211
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GBX2 gene promoter:
  • E2F-5
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • Max
  • ER-alpha
  • aMEF-2
  • MEF-2A

Genomic Locations for GBX2 Gene

Genomic Locations for GBX2 Gene
3,134 bases
Minus strand
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

Post-translational modifications for GBX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GBX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GBX2 Gene

Domains & Families for GBX2 Gene

Gene Families for GBX2 Gene

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

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

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

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

Function for GBX2 Gene

Molecular function for GBX2 Gene

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

Phenotypes From GWAS Catalog for GBX2 Gene

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 --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 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:
  • Gbx2 Gbx2<tm1.2Alj>
  • Gbx2 Gbx2<tm1.1Mrt>

Animal Model Products

Clone 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

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 GBX2 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with GBX2: view

Pathways & Interactions for GBX2 Gene

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

Pathways by source for GBX2 Gene

Gene Ontology (GO) - Biological Process for GBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001755 neural crest cell migration IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GBX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GBX2 Gene:


SOURCE GeneReport for Unigene cluster for GBX2 Gene:


Evidence on tissue expression from TISSUES for GBX2 Gene

  • Nervous system(4.8)
  • Stomach(3.6)
  • Heart(3.3)
  • Muscle(3)
  • Intestine(2.9)
  • Kidney(2.9)
  • Liver(2.8)
genes like me logo Genes that share expression patterns with GBX2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia GBX2 34 33
  • 99.81 (n)
(Canis familiaris)
Mammalia GBX2 34 33
  • 95.11 (n)
(Bos Taurus)
Mammalia GBX2 34 33
  • 94.92 (n)
(Mus musculus)
Mammalia Gbx2 16 34 33
  • 92.05 (n)
(Rattus norvegicus)
Mammalia Gbx2 33
  • 92.05 (n)
(Ornithorhynchus anatinus)
Mammalia GBX2 34
  • 88 (a)
(Monodelphis domestica)
Mammalia GBX2 34
  • 87 (a)
(Gallus gallus)
Aves GBX2 34 33
  • 77.25 (n)
(Anolis carolinensis)
Reptilia GBX2 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gbx2 33
  • 73.69 (n)
Str.10703 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397824 33
(Danio rerio)
Actinopterygii gbx2 34 33 33
  • 68.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta unpg 34 35
  • 29 (a)
(Caenorhabditis elegans)
Secernentea ceh-12 34
  • 32 (a)
Species where no ortholog for GBX2 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for GBX2: view image

Paralogs for GBX2 Gene

Paralogs for GBX2 Gene

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

  • F8VY47_HUMAN
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 Variation AA Info Type
rs1001284865 -- 236,168,431(-) C/T upstream_transcript_variant
rs1001290705 -- 236,167,128(-) T/C intron_variant
rs1002011537 -- 236,165,251(-) C/G/T 3_prime_UTR_variant
rs1002287084 -- 236,169,331(-) T/A/G upstream_transcript_variant
rs1002294603 -- 236,165,530(-) T/C 3_prime_UTR_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
nsv1000252 CNV loss 25217958
nsv525913 CNV loss 19592680
nsv821922 CNV gain 20364138
nsv821923 CNV gain 20364138
nsv821924 CNV gain 20364138
nsv953211 CNV deletion 24416366

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)

Additional Variant Information for GBX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for GBX2

Genetic Association Database
Human Genome Epidemiology 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 JF (Genomics 1996) 2 3 4 22 58
  2. 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 letters 1993) 3 4 22 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  4. Enhanced GBX2 expression stimulates growth of human prostate cancer cells via transcriptional up-regulation of the interleukin 6 gene. (PMID: 10690529) Gao AC … Isaacs JT (Clinical cancer research : an official journal of the American Association for Cancer Research 2000) 3 22 58
  5. Down-regulation of homeobox gene GBX2 expression inhibits human prostate cancer clonogenic ability and tumorigenicity. (PMID: 9537237) Gao AC … Isaacs JT (Cancer research 1998) 3 22 58

Products for GBX2 Gene

Sources for GBX2 Gene

Loading form....