Human Gene GBX2 (uc002vvw.1)
Description: Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.
Transcript (Including UTRs)
Position: hg19 chr2:237,074,307-237,076,652 Size: 2,346 Total Exon Count: 2 Strand: -
Coding Region
Position: hg19 chr2:237,074,557-237,076,614 Size: 2,058 Coding Exon Count: 2
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: GBX2_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein GBX-2; AltName: Full=Gastrulation and brain-specific homeobox protein 2;
FUNCTION: May act as a transcription factor for cell pluripotency and differentiation in the embryo.SUBCELLULAR LOCATION: Nucleus (Probable).SIMILARITY: Contains 1 homeobox DNA-binding domain.
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GBX2
CDC HuGE Published Literature: GBX2
Positive Disease Associations: Body Mass Index
Related Studies: Body Mass Index , , .
[PubMed 0 ]
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR017970 - Homeobox_CS
IPR020479 - Homeobox_metazoa
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
Pfam Domains: PF00046 - Homeobox domain
SCOP Domains: 46689 - Homeodomain-like
ModBase Predicted Comparative 3D Structure on P52951
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding
Biological Process: GO:0001569 branching involved in blood vessel morphogenesis
GO:0001755 neural crest cell migration
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0008283 cell proliferation
GO:0021549 cerebellum development
GO:0021555 midbrain-hindbrain boundary morphogenesis
GO:0021568 rhombomere 2 development
GO:0021794 thalamus development
GO:0021884 forebrain neuron development
GO:0021930 cerebellar granule cell precursor proliferation
GO:0030902 hindbrain development
GO:0030917 midbrain-hindbrain boundary development
GO:0035239 tube morphogenesis
GO:0042472 inner ear morphogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048483 autonomic nervous system development
Cellular Component: GO:0005634 nucleus
Descriptions from all associated GenBank mRNAs
LF205295 - JP 2014500723-A/12798: Polycomb-Associated Non-Coding RNAs.BC137449 - Homo sapiens gastrulation brain homeobox 2, mRNA (cDNA clone MGC:169072 IMAGE:9021449), complete cds.BC144646 - Homo sapiens cDNA clone IMAGE:9053177.BC137448 - Homo sapiens gastrulation brain homeobox 2, mRNA (cDNA clone MGC:169071 IMAGE:9021448), complete cds.AK311262 - Homo sapiens cDNA, FLJ18304.AF118452 - Homo sapiens homeobox protein GBX2 mRNA, complete cds.BC114458 - Homo sapiens cDNA clone IMAGE:40016325.BC141861 - Homo sapiens cDNA clone IMAGE:40016323.KJ891225 - Synthetic construct Homo sapiens clone ccsbBroadEn_00619 GBX2 gene, encodes complete protein.AB463673 - Synthetic construct DNA, clone: pF1KB9710, Homo sapiens GBX2 gene for gastrulation brain homeobox 2, without stop codon, in Flexi system.LF318932 - JP 2014500723-A/126435: Polycomb-Associated Non-Coding RNAs.LF318933 - JP 2014500723-A/126436: Polycomb-Associated Non-Coding RNAs.LF211751 - JP 2014500723-A/19254: Polycomb-Associated Non-Coding RNAs.LF205297 - JP 2014500723-A/12800: Polycomb-Associated Non-Coding RNAs.JD458511 - Sequence 439535 from Patent EP1572962.JD458512 - Sequence 439536 from Patent EP1572962.JD458513 - Sequence 439537 from Patent EP1572962.JD200352 - Sequence 181376 from Patent EP1572962.JD272537 - Sequence 253561 from Patent EP1572962.JD200351 - Sequence 181375 from Patent EP1572962.JD272536 - Sequence 253560 from Patent EP1572962.MA440872 - JP 2018138019-A/12798: Polycomb-Associated Non-Coding RNAs.MA554509 - JP 2018138019-A/126435: Polycomb-Associated Non-Coding RNAs.MA554510 - JP 2018138019-A/126436: Polycomb-Associated Non-Coding RNAs.MA447328 - JP 2018138019-A/19254: Polycomb-Associated Non-Coding RNAs.MA440874 - JP 2018138019-A/12800: Polycomb-Associated Non-Coding RNAs.
Other Names for This Gene
Alternate Gene Symbols: B2RPH7, GBX2_HUMAN, NM_001485, NP_001476, O43833, P52951, Q53RX5, Q9Y5Y1UCSC ID: uc002vvw.1RefSeq Accession: NM_001485
Protein: P52951
(aka GBX2_HUMAN)
CCDS: CCDS2515.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001485.2
exon count:
2 CDS single in 3' UTR:
no
RNA size:
1335
ORF size:
1047 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
2219.00 frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.