SPTBN4

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.

Spectrin Beta, Non-Erythrocytic 4

Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process adult walking behaviorISS:BHF-UCL
Biological Process axonogenesisISS:BHF-UCL
Biological Process cardiac conductionISS:BHF-UCL
Biological Process central nervous system projection neuron axonogenesisISS:BHF-UCL
Biological Process clustering of voltage-gated sodium channelsISS:BHF-UCL
Biological Process fertilizationIEA:Ensembl
Biological Process negative regulation of heart rateISS:BHF-UCL
Biological Process positive regulation of multicellular organism growthIEA:Ensembl
Biological Process protein localization to plasma membraneISS:BHF-UCL
Biological Process regulation of peptidyl-serine phosphorylationISS:BHF-UCL
Biological Process regulation of sodium ion transportISS:BHF-UCL
Biological Process sensory perception of soundISS:BHF-UCL
Biological Process transmission of nerve impulseISS:BHF-UCL
Biological Process vesicle-mediated transportManual Assertion Based On ExperimentTAS:UniProtKB

Cytoplasm, cytoskeleton By Similarity
Cytoplasm, cell cortex

Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND):
An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy.