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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 Charge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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 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

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F235779 0.8 ENCODE 10.3 +388.8 388778 0.2 ELF3 CTCF ESRRA ZNF48 ZNF2 RAD21 RFX5 TEAD3 ZNF143 SMC3 ENSG00000233611 GBX2 LOC105373942 GC02P235753 PIR31730
GH02F236177 1.5 FANTOM5 Ensembl ENCODE 0.4 -11.0 -11033 3.8 HDGF ATF1 SIN3A BMI1 RAD21 YY1 ZNF335 SCRT2 ZNF143 ZNF207 GBX2 RNU1-31P GC02M236211
GH02F236173 0.9 Ensembl ENCODE 0.4 -6.8 -6768 2.3 RNF2 CBX2 MAX ZIC2 ZBTB7A ZFHX2 GLIS1 ZNF652 EZH2 EGR2 LOC105373942 ASB18 GBX2 RNU1-31P GC02M236211
GH02F236176 0.7 ENCODE 0.4 -8.3 -8264 0.2 GATAD2A CTCF NFIA ZNF384 RAD21 TFDP1 ZNF664 ZKSCAN8 IKZF1 ZNF341 ASB18 GBX2 RNU1-31P GC02M236211
GH02F236209 0.6 ENCODE 0.2 -41.4 -41384 0.2 CTCF JUND ATF3 JUN IKZF1 CEBPB ZEB2 ATF2 GC02M236211 RNU1-31P GBX2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000610030 469 1401 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF263 SP3 SP5

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

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:
    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

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

  • Santa Cruz Biotechnology (SCBT) Antibodies for GBX2

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: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 IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9346236
GO:0043565 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

Inhibitory RNA Products

Flow Cytometry 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

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 GBX2 gene
Compartment Confidence
nucleus 5

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 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
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:

Inhibitory RNA Products

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 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, PaxDb, MaxQB, and MOPED for GBX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GBX2 Gene:

GBX2

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GBX2 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia GBX2 34 35
  • 95.11 (n)
cow
(Bos Taurus)
Mammalia GBX2 34 35
  • 94.92 (n)
mouse
(Mus musculus)
Mammalia Gbx2 34 16 35
  • 92.05 (n)
rat
(Rattus norvegicus)
Mammalia Gbx2 34
  • 92.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GBX2 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBX2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBX2 34 35
  • 77.25 (n)
lizard
(Anolis carolinensis)
Reptilia GBX2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gbx2 34
  • 73.69 (n)
Str.10703 34
African clawed frog
(Xenopus laevis)
Amphibia LOC397824 34
zebrafish
(Danio rerio)
Actinopterygii gbx2 34 35
  • 68.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta unpg 36 35
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-12 35
  • 32 (a)
OneToMany
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

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
rs10183276 -- 236,169,250(+) CACGT(C/T)GCGAA upstream-variant-2KB
rs10202397 -- 236,165,174(+) TTGCC(C/T)GGCCA intron-variant, upstream-variant-2KB
rs10209196 -- 236,167,330(+) CTCCT(A/C)CCGCG intron-variant
rs111490631 -- 236,165,246(+) CTTTT(C/T)CCCCC upstream-variant-2KB, utr-variant-3-prime
rs112186240 -- 236,167,453(-) GCTTC(C/G)CTCGG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv953211 CNV deletion 24416366
nsv821924 CNV gain 20364138
nsv821923 CNV gain 20364138
nsv821922 CNV gain 20364138
nsv525913 CNV loss 19592680
nsv1000252 CNV loss 25217958
esv33938 CNV loss 17666407
esv2751845 CNV gain 17911159

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)

Relevant External Links for GBX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBX2

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

Disorders for GBX2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charge syndrome
  • charge association
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)
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 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 22 64
  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 Lett. 1993) 3 4 22 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. 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 22 64
  5. 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 22 64

Products for GBX2 Gene

Sources for GBX2 Gene

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