BICD2

The fourth coiled coil region is involved in Golgi targeting and in the interaction with DCTN2.

Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25814576). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex (PubMed:25962623). Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity).

Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant

SMALED2A

An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life.

None

The disease is caused by variants affecting the gene represented in this entry.

Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant

SMALED2B

An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated by NEK9 in vitro.

Belongs to the BicD family.

Ubiquitous.

• Golgi apparatus
• Cytoplasm
• Cytoskeleton
• Cytoplasm
• Nucleus envelope
• Nucleus
• Nuclear pore complex
• In interphase cells mainly localizes to the Golgi complex and colocalizes with dynactin at microtubule plus ends (By similarity). Localizes to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae in a RANBP2-dependent manner during G2 phase of the cell cycle (PubMed:20386726).

KIAA0699, BICD2, Protein bicaudal D homolog 2, Bic-D 2

• entrezGene:23299
• omim:609797
• swissprot:Q8TD16

Proteins

Neuroscience

93533Da