SPTBN4 (Entrez ID: 57731)

Entrez Gene ID 57731
Official Gene Symbol SPTBN4 (GeneCards)
Full name spectrin beta, non-erythrocytic 4
Location 19q13.2
Other ids Vega : OTTHUMG00000182592
MIM : 606214
HGNC : HGNC:14896
Ensembl : ENSG00000160460
Other names QV, CMND, SPNB4, SPTBN3
Summary Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Variants

Found 1 variant in this database.