Human Gene EPS8L3 (uc001dyr.2) Description and Page Index
Description: Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. RefSeq Summary (NM_133181): This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:110,292,702-110,306,644 Size: 13,943 Total Exon Count: 19 Strand: - Coding Region Position: hg19 chr1:110,293,013-110,304,371 Size: 11,359 Coding Exon Count: 18
ID:ES8L3_HUMAN DESCRIPTION: RecName: Full=Epidermal growth factor receptor kinase substrate 8-like protein 3; Short=EPS8-like protein 3; AltName: Full=Epidermal growth factor receptor pathway substrate 8-related protein 3; Short=EPS8-related protein 3; SUBUNIT: Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Interacts with FASLG. SUBCELLULAR LOCATION: Cytoplasm. SIMILARITY: Belongs to the EPS8 family. SIMILARITY: Contains 1 SH3 domain.
Genetic Association Studies of Complex Diseases and Disorders
Osteitis Deformans Omar M E Albagha et al. Nature genetics 2010, Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone., Nature genetics.
Paget's disease Omar M E Albagha et al. Nature genetics 2011, Genome-wide association identifies three new susceptibility loci for Paget's disease of bone., Nature genetics.
Parkinson Disease Hon-Chung Fung et al. Lancet neurology 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data., Lancet neurology.
We generated publicly available genotype data for Parkinsons disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
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.
ModBase Predicted Comparative 3D Structure on Q8TE67
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.