InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BICD2

Summary

InnateDB Protein

IDBP-76297.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BICD2

Protein Name

bicaudal D homolog 2 (Drosophila)

Synonyms

bA526D8.1; SMALED2;

Species

Homo sapiens

Ensembl Protein

ENSP00000349351

InnateDB Gene

IDBG-76295 (BICD2)

Protein Structure

UniProt Annotation

Function

May play a role in the dynein-dynactin interactions on the surface of membranous organelles, by associating with these complexes. Regulates coat complex coatomer protein I (COPI)- independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex (By similarity). {ECO:0000250}.

Subcellular Localization

Golgi apparatus. Cytoplasm, cytoskeleton. Note=In interphase cells mainly localizes to the Golgi complex and colocalizes with dynactin at microtubule plus ends (By similarity). Its localization is dependent on microtubule morphology. {ECO:0000250}.

Disease Associations

Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290]: 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. {ECO:0000269PubMed:23664116, ECO:0000269PubMed:23664119, ECO:0000269PubMed:23664120}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017137	Rab GTPase binding

Biological Process

GO:0006810	transport
GO:0007018	microtubule-based movement
GO:0008219	cell death
GO:0072385	minus-end-directed organelle transport along microtubule
GO:0072393	microtubule anchoring at microtubule organizing center