Aliases for GBX2 Gene

Aliases for GBX2 Gene

  • Gastrulation Brain Homeobox 2 2 3 5
  • Gastrulation And Brain-Specific Homeobox Protein 2 3 4
  • Homeobox Protein GBX-2 3 4
  • Gastrulation Brain Homeo Box 2 2
  • GBX2 5

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 Epileptic Encephalopathy, Early Infantile, 28 and Colon Small Cell Carcinoma. Among its related pathways are Neural Crest Differentiation and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. 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 Summary 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 , Rfam classification and piRNA Summary for GBX2 Gene

Genomics for GBX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J236162 Promoter/Enhancer 2.8 VISTA UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.9 2878 7 CTCF PATZ1 REST EZH2 ZNF600 ZFX MGA SP2 RAD21 SP1 ENSG00000233611 GBX2 LOC105373944
GH02J235779 Enhancer 0.8 ENCODE 10.3 +388.8 388794 0.2 CTCF RFX5 ZNF143 REST RAD21 IRF2 TRIM22 ESRRA SMC3 ZBTB17 ENSG00000233611 GBX2 ENSG00000222007 LOC105373942 piR-30731 AGAP1 LOC105373944
GH02J236247 Enhancer 0.5 dbSUPER 10.2 -80.2 -80150 2.6 SOX13 FOXA2 BCL6 RARA SOX5 ELF3 FOXA3 ZNF644 RNU1-31P ENSG00000233611 GBX2 lnc-IQCA1-1 ASB18 RF00003-046
GH02J236130 Enhancer 0.2 Ensembl 12 +37.5 37485 0.6 piR-53717 piR-51106 ENSG00000233611 GBX2 HSALNG0023254 LOC105373944 AGAP1
GH02J236126 Enhancer 0.2 Ensembl 12 +41.3 41286 0.2 piR-32826 piR-45231 piR-52004 piR-49963 GBX2 ENSG00000233611 LOC105373944 AGAP1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBX2

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

Genomic Locations for GBX2 Gene

Genomic Locations for GBX2 Gene
3,151 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:
  • Gastrulation and brain-specific homeobox protein 2 (GBX2_HUMAN)
genes like me logo Genes that share domains with GBX2: view

No data available for Graphical View of Domain Structure and 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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA,IBA 21873635
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001085 RNA polymerase II transcription factor binding IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IBA 21873635
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<tm1.1Mrt>
  • Gbx2 Gbx2<tm1.2Alj>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBX2

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 4
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1

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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
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

1 Qiagen pathway for GBX2 Gene
  • Transcriptional Regulatory Network in Embryonic Stem Cell

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0007399 nervous system development TAS 8838315
GO:0007411 axon guidance 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

8 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 GBX2

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

No ASD Table

Relevant External Links for GBX2 Gene

GeneLoc Exon Structure for

Expression for GBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GBX2

SOURCE GeneReport for Unigene cluster for GBX2 Gene:


Evidence on tissue expression from TISSUES for GBX2 Gene

  • Nervous system(4.8)
  • Heart(3.8)
  • Stomach(3.6)
  • Muscle(3.5)
  • Kidney(3.4)
  • Liver(3.2)
  • Intestine(3.2)
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 30 31
  • 99.81 (n)
(Canis familiaris)
Mammalia GBX2 30 31
  • 95.11 (n)
(Bos Taurus)
Mammalia GBX2 30 31
  • 94.92 (n)
(Mus musculus)
Mammalia Gbx2 30 17 31
  • 92.05 (n)
(Rattus norvegicus)
Mammalia Gbx2 30
  • 92.05 (n)
(Ornithorhynchus anatinus)
Mammalia GBX2 31
  • 88 (a)
(Monodelphis domestica)
Mammalia GBX2 31
  • 87 (a)
(Gallus gallus)
Aves GBX2 30 31
  • 77.25 (n)
(Anolis carolinensis)
Reptilia GBX2 31
  • 71 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gbx2 30
  • 73.69 (n)
Str.10703 30
African clawed frog
(Xenopus laevis)
Amphibia LOC397824 30
(Danio rerio)
Actinopterygii gbx2 30 31
  • 68.73 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta unpg 31 32
  • 29 (a)
(Caenorhabditis elegans)
Secernentea ceh-12 31
  • 32 (a)
Species where no ortholog for GBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBX2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
780367 Benign: not provided 236,166,184(-) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
780874 Benign: not provided 236,167,612(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GBX2 Gene

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

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

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 28
  • eiee28
colon small cell carcinoma
  • colonic small cell carcinoma
opitz-gbbb syndrome
  • hypertelorism with esophageal abnormality and hypospadias
charge syndrome
  • hhs
digeorge 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
Open Targets Platform
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 23
  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 23
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  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 23
  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 23

Products for GBX2 Gene

Sources for GBX2 Gene