SYNPO2 (Synaptopodin 2) is a Protein Coding gene. Diseases associated with SYNPO2 include Duchenne Muscular Dystrophy and Myopathy, Myofibrillar, 2. GO annotations related to this gene include actin binding and muscle alpha-actinin binding. An important paralog of this gene is SYNPO2L.
Function:
Has an actin-binding and actin-bundling activity. Can induce the formation of F-actin networks in an isoform-specific manner (PubMed:4805909, PubMed:23225103). At the sarcomeric Z lines is proposed to act as adapter protein that links nascent myofibers to the sarcolemma via ZYX and may play a role in early assembly and stabilization of the Z lines. Involved in autophagosome formation. May play a role in chaperone-assisted selective autophagy (CASA) involved in Z lines maintenance in striated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering and fusion complex providing autophagosome membranes (By similarity). Involved in regulation of cell migration (PubMed:22915763, PubMed:25883213). May be a tumor suppressor (PubMed:16885336).
Subcellular Location:
Nucleus. Cytoplasm. Shuttles between the nucleus and the cytoplasm in a differentiation-dependent and stress-induced fashion. Localizes to the Z-disk in mature striated muscle. The nuclear export is XPO1-dependent (By similarity). Localized in a fiber-like pattern. partly overlapping with filamentous actin.
Tissue Specificity:
Skeletal muscle-specific.
DISEASE:
Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).
Similarity:
Belongs to the synaptopodin family.
Contains 1 PDZ (DHR) domain.
SWISS:
Q9UMS6
Gene ID:
171024
Database links:
Entrez Gene: 171024 Human
Entrez Gene: 118449 Mouse
Entrez Gene: 499702 Rat
SwissProt: Q9UMS6 Human
SwissProt: Q91YE8 Mouse
Unigene: 655519 Human
Unigene: 317009 Mouse
Unigene: 34359 Mouse
Unigene: 474733 Mouse
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