Description: Homo sapiens EPH receptor A3 (EPHA3), transcript variant 2, mRNA. RefSeq Summary (NM_182644): This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr3:89,156,674-89,449,495 Size: 292,822 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr3:89,156,899-89,448,656 Size: 291,758 Coding Exon Count: 7
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Neuroblastoma John M Maris et al. The New England journal of medicine 2008, Chromosome 6p22 locus associated with clinically aggressive neuroblastoma., The New England journal of medicine.
[PubMed 18463370]
A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma.
Neuroblastoma John M Maris et al. The New England journal of medicine 2008, Chromosome 6p22 locus associated with clinically aggressive neuroblastoma., The New England journal of medicine.
[PubMed 18463370]
A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma.
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
Pfam Domains: PF00041 - Fibronectin type III domain PF01404 - Ephrin receptor ligand binding domain PF07699 - Putative ephrin-receptor like
SCOP Domains: 49265 - Fibronectin type III 49785 - Galactose-binding domain-like 57184 - Growth factor receptor domain
ModBase Predicted Comparative 3D Structure on P29320-2
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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.