Description: Homo sapiens stathmin-like 2 (STMN2), transcript variant 2, mRNA. RefSeq Summary (NM_007029): This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]. Transcript (Including UTRs) Position: hg19 chr8:80,523,049-80,578,410 Size: 55,362 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr8:80,523,431-80,577,109 Size: 53,679 Coding Exon Count: 5
ID:STMN2_HUMAN DESCRIPTION: RecName: Full=Stathmin-2; AltName: Full=Superior cervical ganglion-10 protein; Short=Protein SCG10; FUNCTION: Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity). SUBUNIT: Interacts with MAPK8 (By similarity). Interacts with ITM2C. INTERACTION: Q8IYF3:TEX11; NbExp=2; IntAct=EBI-714194, EBI-742397; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Cell projection, growth cone. Membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Cell projection, axon. Golgi apparatus. Endosome (By similarity). Note=Associated with punctate structures in the perinuclear cytoplasm, axons, and growth cones of developing neurons. SCG10 exists in both soluble and membrane-bound forms (By similarity). TISSUE SPECIFICITY: Neuron specific. PTM: Sumoylated. PTM: Phosphorylated mostly by MAPK8, but also by MAPK9 and MAPK10 in the developing brain cortex (By similarity). PTM: N-terminal palmitoylation promotes specific anchoring to the cytosolic leaflet of Golgi membranes and subsequent vesicular trafficking along dendrites and axons. Neuronal Stathmins are substrates for palmitoyltransferases ZDHHC3, ZDHHC7 and ZDHHC15. SIMILARITY: Belongs to the stathmin family.
Creutzfeldt-Jakob disease Mead ,et al. 2008, Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study, Lancet neurology 2009 8- 1 : 57-66.
[PubMed 19081515]
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
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 Q93045
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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.
Biological Process: GO:0007026 negative regulation of microtubule depolymerization GO:0010976 positive regulation of neuron projection development GO:0010977 negative regulation of neuron projection development GO:0031110 regulation of microtubule polymerization or depolymerization GO:0031115 negative regulation of microtubule polymerization GO:0031117 positive regulation of microtubule depolymerization GO:1990090 cellular response to nerve growth factor stimulus
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