Description: Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 1, mRNA. RefSeq Summary (NM_005256): The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]. Transcript (Including UTRs) Position: hg19 chr11:22,696,319-22,834,547 Size: 138,229 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr11:22,696,416-22,833,562 Size: 137,147 Coding Exon Count: 7
ID:GAS2_HUMAN DESCRIPTION: RecName: Full=Growth arrest-specific protein 2; Short=GAS-2; FUNCTION: May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Membrane; Peripheral membrane protein (By similarity). Note=Component of the microfilament system. Colocalizes with actin fibers at the cell border and along the stress fibers in growth- arrested fibroblasts. Mainly membrane-associated. When hyperphosphorylated, accumulates at membrane ruffles (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in liver, lung, and kidney. Not found in spleen. DEVELOPMENTAL STAGE: Specifically expressed at growth arrest. PTM: Cleaved, during apoptosis, on a specific aspartic residue by caspases. PTM: Phosphorylated on serine residues during the G0-G1 transition phase (By similarity). SIMILARITY: Belongs to the GAS2 family. SIMILARITY: Contains 1 CH (calponin-homology) domain. SIMILARITY: Contains 1 GAR domain.
Diabetes Mellitus, Type 2 Mariana Murea et al. American journal of nephrology 2011, Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes., American journal of nephrology.
[PubMed 21546767]
Genetic variation may modify the risk of death on dialysis. SNPs in proximity to genes regulating vascular extracellular matrix, cardiac ventricular repolarization, and smoking cessation are associated with dialysis survival in AAs with T2D. These results warrant replication in other cohorts and races.
Heart Diseases Martin G Larson et al. BMC medical genetics 2007, Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes., BMC medical genetics.
[PubMed 17903304]
No association attained genome-wide significance, but several intriguing findings emerged. Notably, we replicated associations of chromosome 9p21 with major CVD. Additional studies are needed to validate these results. Finding genetic variants associated with CVD may point to novel disease pathways and identify potential targeted preventive therapies.
Hemoglobin A, Glycosylated James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903298]
Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
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 O43903
Front
Top
Side
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.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
