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SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2 OKDB#: 1588
 Symbols: SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2 Species: human
 Synonyms: SPECTRIN, BETA-III|  Locus: 11q13 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Spectrin is an important structural component of the plasma membrane skeleton. The predicted 2,391-amino acid protein encoded by the SPTBN2 gene, beta-III spectrin, is highly homologous to both beta-I spectrin (SPTB; OMIM 182870) and beta-II spectrin (SPTBN1; OMIM 182790). Beta-III spectrin contains conserved actin-, protein 4.1-, and ankyrin-binding domains, membrane association domains 1 and 2, a spectrin dimer self-association site, and a pleckstrin homology domain.

General function Cytoskeleton
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Oogenesis
Comment β-Spectrin regulates the Hippo signaling pathway and modulates the basal actin network. Wong KK et al. (2015) Emerging evidence suggests functional regulation of Hippo pathway by the actin cytoskeleton, although the detailed molecular mechanism remains incomplete. In a genetic screen we identified a requirement for β-Spectrin in the posterior follicle cells (PFCs) for the oocyte repolarization process during Drosophila mid-oogenesis. β-spectrin mutations lead to loss of Hippo signaling activity in the follicle cells. Similar reduction of Hippo signaling activity was observed after β-Spectrin knockdown in mammalian cells. We further demonstrated that β-spectrin mutations disrupt the basal actin network in the follicle cells. The abnormal stress-fiber-like actin structure on the basal side of the follicle cells provides a likely link between the β-spectrin mutations and the loss of Hippo signaling activity phenotype.//////////////////
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Taft RA, et al 2002 reported the identification of genes encoding mouse oocyte secretory and transmembrane proteins by a signal sequence trap. At all stages of follicular development, oocytes interact with surrounding granulosa cells and promote their differentiation into the types of cells that support further oocyte growth and developmental competence. These interactions suggest the existence of an oocyte-granulosa cell regulatory loop that includes both secreted proteins and cell surface receptors on both cell types. Factors involved in the regulatory loop will therefore contain a signal sequence, which can be used to identify them through a signal sequence trap (SST). A screen of an oocyte SST library identified three classes of oocyte-expressed sequences: known mouse genes, sequences homologous to known mammalian genes, and novel sequences of unknown function. Many of the recovered genes may have roles in the oocyte-granulosa cell regulatory loop. For several of the known mouse genes, new roles in follicular development are implied by identification of their expression, for the first time, in the oocyte. Beta spectrin 2 was found by the SST screen.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Aug. 26, 2002, 2:55 p.m. by: hsueh   email:
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last update: Jan. 26, 2015, 4:06 p.m. by: hsueh    email:



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