BICD2 Gene Summary [Human]
This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BICD2 |
| Official Name | BICD cargo adaptor 2 [Source:HGNC Symbol;Acc:HGNC:17208] |
| Ensembl ID | ENSG00000185963 |
| Bio databases IDs | |
| Aliases | BICD cargo adaptor 2 |
| Synonyms | bA526D8.1, BICD cargo adaptor 2, D10MGI11, SMALED2, SMALED2A, SMALED2B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BICD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- cytoskeletal protein binding
- enzyme binding
- coiled-coil domain
- protein binding
- Microtubule-associated protein Bicaudal-D
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- autosomal dominant childhood-onset lower extremity-predominant spinal muscular atrophy-2A
- autosomal dominant prenatal onset lower extremity-predominant spinal muscular atrophy 2b
- nonimmune hydrops fetalis
- hippocampal atrophy
- gait disturbance
- weight loss
- autosomal dominant distal hereditary motor neuropathy
- hemorrhoid
- autosomal dominant lower extremity spinal muscular atrophy
role in cell
- expression in
- accumulation in
- cell death
- abnormal morphology
- migration
- movement by
- transport
- association in
- transport in
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endomembrane system
- cytoskeleton
- perinuclear region
- Plasma Membrane
- centrosome
- Golgi Apparatus
- microtubules
- cytosol
- Golgi stacks
- trans Golgi network
- nuclear pores
- nuclear envelope
- cytoplasmic vesicles
- plus end of microtubule
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BICD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- minus-end-directed organelle transport along microtubule
- centrosome localization
- regulation of microtubule cytoskeleton organization
- microtubule anchoring at microtubule organizing center
- retrograde vesicle-mediated transport, Golgi to ER
- protein localization in Golgi apparatus
- protein transport
- microtubule-based movement
- mRNA transport
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- centrosome
- cytoplasm
- cytoplasmic vesicle
- cytosol
- Golgi apparatus
- annulate lamellae
- plasma membrane
- nuclear pore
Molecular Function
What the gene product does at the molecular level
- protein binding
- cytoskeletal adaptor activity
- dynactin binding
- small GTPase binding
- dynein light intermediate chain binding
- dynein complex binding