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Aliases for GBX2 Gene

Aliases for GBX2 Gene

  • Gastrulation Brain Homeobox 2 2 3
  • 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. Among its related pathways are Neural Crest Differentiation 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 DLX5.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GBX2 Gene

Chromosome:
2
Start:
236,165,236 bp from pter
End:
236,168,369 bp from pter
Size:
3,134 bases
Orientation:
Minus strand

Genomic View for GBX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P52951-GBX2_HUMAN
    Recommended name:
    Homeobox protein GBX-2
    Protein Accession:
    P52951
    Secondary Accessions:
    • B2RPH7
    • O43833
    • Q53RX5
    • Q9Y5Y1

    Protein attributes for GBX2 Gene

    Size:
    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

P52951

UniProtKB/Swiss-Prot:

GBX2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IEA --
GO:0003677 DNA binding --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9346236
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GBX2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for GBX2 Gene COMPARTMENTS Subcellular localization image for GBX2 gene
Compartment Confidence
nucleus 3

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

1 BioSystems pathway for GBX2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter 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
ALAR
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GBX2

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GBX2 Gene

GeneLoc Exon Structure for
GBX2
ECgene alternative splicing isoforms for
GBX2

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia GBX2 35
  • 94.92 (n)
  • 98.56 (a)
GBX2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBX2 35
  • 95.11 (n)
  • 99.14 (a)
GBX2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gbx2 35
  • 92.05 (n)
  • 98.28 (a)
Gbx2 16
Gbx2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GBX2 35
  • 99.81 (n)
  • 99.71 (a)
GBX2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gbx2 35
  • 92.05 (n)
  • 97.7 (a)
oppossum
(Monodelphis domestica)
Mammalia GBX2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBX2 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBX2 35
  • 77.25 (n)
  • 75.37 (a)
GBX2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBX2 36
  • 71 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii gbx2 35
  • 68.73 (n)
  • 73.16 (a)
gbx2 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta unpg 37
  • 78 (a)
unpg 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-12 36
  • 32 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GBX2 (if available)
TreeFam:
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 MAF
rs6709943 -- 236,166,786(+) GGGTG(A/G)GGACT intron-variant
rs10183276 -- 236,169,250(+) CACGT(C/T)GCGAA upstream-variant-2KB
rs10209196 -- 236,167,330(+) CTCCT(A/C)CCGCG intron-variant
rs12471696 -- 236,168,874(+) GCGAA(G/T)GCTGG upstream-variant-2KB
rs13031166 -- 236,167,390(+) CGGCG(A/C)TGGCC 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: 42.54% 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)

Relevant External Links for GBX2 Gene

HapMap Linkage Disequilibrium report
GBX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBX2 Gene

Disorders for GBX2 Gene

Relevant External Links for GBX2

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

No data available for MalaCards , 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 23 67
  2. The posteriorizing gene Gbx2 is a direct target of Wnt signalling and the earliest factor in neural crest induction. (PMID: 19736322) Li B. … Mayor R. (Development 2009) 23 67
  3. Distinct roles of Fgf8, Foxi1, Dlx3b and Pax8/2 during otic vesicle induction and maintenance in medaka. (PMID: 17555740) Aghaallaei N. … Czerny T. (Dev. Biol. 2007) 23 67
  4. Silencing of Peroxiredoxin 2 and aberrant methylation of 33 CpG islands in putative promoter regions in human malignant melanomas. (PMID: 16778180) Furuta J. … Ushijima T. (Cancer Res. 2006) 23 67
  5. Dlx5 and Dlx6 homeobox genes are required for specification of the mammalian vestibular apparatus. (PMID: 16900517) Robledo R.F. … Lufkin T. (Genesis 2006) 23 67

Products for GBX2 Gene

Sources for GBX2 Gene

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