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FLASH GENE

Symbol

BICD2

contributors: mct - updated : 22-01-2019

HGNC name	bicaudal D homolog 2 (Drosophila)
HGNC id	17208

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SMALED2 extremity-predominant spinal muscular atrophy-2
Location	9q22.31      Physical location : 95.473.644 - 95.527.083
Synonym name	coiled-coil protein BICD2
	homolog of Drosophila bicaudal D
	cDNA sequence,expressed in brain,88kDa,related to Bic D protein
	cytoskeleton-like bicaudal D protein homolog 2
Synonym symbol(s)	KIAA0699

DNA

TYPE	functioning gene
STRUCTURE	53.44 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015250 8 - 4625 NP_056065 - 824 - 2002 11864968 NM_001003800 7 - 6433 NP_001003800 - 855 - 2002 11864968

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Nervous brain diencephalon amygdala       brain hindbrain cerebellum       brain diencephalon hypothalamus       brain diencephalon thalamus       spinal cord       highly Homo sapiens Reproductive male system testis       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus (BICD2-N) strongly promotes stable interaction between dynein and dynactin
	five coiled-coil domains
	C-terminal coiled-coil domain interacts with various cargos, such as RAB6A

HOMOLOGY

interspecies

homolog to Drosophila bicaudal D

intraspecies

homolog to Bic D protein

Homologene

FAMILY

BicD family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus
	intracellular,nuclear envelope,pore

basic FUNCTION	playing a role associated with cell cycle independent microtubule dynamics
	evolutionary conserved motor-adaptor protein, is implicated in dynein-mediated transport as a molecular linker between the dynein motor and various cargos
	cytoplasmic conserved motor-adaptor protein involved in anterograde and retrograde transport
	has roles in the synaptic vesicle and membrane traffic and Golgi structure
	essential in dynein-dynactin microtubule transport, in clathrin-mediated synaptic-vesicular recycling, and in the Golgi network, and crucial for the functional integrity of lower motor neurons
	its function is essential for motor neuron physiology
	key adaptor protein that interacts with the dynein-dynactin motor complex, which facilitates trafficking of cellular cargos that are critical to motor neuron development and maintenance
	essential non-cell-autonomous role of BICD2 in neuronal cell migration, which might be connected to cargo trafficking pathways in glia cells
	joins dynein with dynactin into a ternary complex (termed DDB) capable of processive movement
	BICD2 facilitates infection by promoting the trafficking of HIV viral cores to the nucleus, thereby promoting nuclear entry of the viral genome and infection
	highly conserved motor adaptor protein that regulates the dynein-dynactin complex in different cellular processes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with NEK9
	with GOPC and DCTN1, interacting with RAB6A (Bergrede 2009)
	BICD2, dynactin, and PAFAH1B1 cooperate in regulating dynein recruitment to cellular structures
	ASUN controls dynein localization via a mechanism distinct from that of either BICD2 or CENPF

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SMALED2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	transgenic mice with neuron-specific expression of Bicaudal D2 N-terminus (Bicd2-N) did not develop signs of motor neuron degeneration and motor abnormalities
	Bicd2-deficient mice develop disrupted laminar organization of cerebral cortex and the cerebellum, pointing to impaired radial neuronal migration