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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]
BICD2 (BICD Cargo Adaptor 2) is a Protein Coding gene. Diseases associated with BICD2 include Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant and Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is BICD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16417406 |
GO:0008093 | cytoskeletal adaptor activity | IEA | -- |
GO:0031267 | small GTPase binding | ISS | -- |
GO:0034452 | dynactin binding | IBA,ISS | -- |
GO:0051959 | dynein light intermediate chain binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | IEA,IDA | 20386726 |
GO:0005642 | annulate lamellae | IDA | 20386726 |
GO:0005643 | nuclear pore | IEA,IDA | 20386726 |
GO:0005737 | cytoplasm | IEA,IMP | 17139249 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Golgi-to-ER retrograde transport | ||
2 | Vesicle-mediated transport | ||
3 | COPI-independent Golgi-to-ER retrograde traffic |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | IBA,IMP | 25962623 |
GO:0007018 | microtubule-based movement | IBA | 21873635 |
GO:0015031 | protein transport | IEA | -- |
GO:0033365 | protein localization to organelle | IBA | 21873635 |
GO:0034067 | protein localization to Golgi apparatus | IBA,IMP | 25962623 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BICD2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bicd2 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BICD2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bicd2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | BICD2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BICD2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BICD2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BICD2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BICD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bicd2 30 |
|
||
Str.5535 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.26943 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | BICD2 (2 of 2) 31 |
|
OneToMany | |
LOC557383 30 |
|
||||
bicd2 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | BicD 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010206 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | bicd-1 30 31 |
|
OneToMany | |
C43G2.2 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3535 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
834774 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,720,491(-) |
C/T NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) |
MISSENSE | |
835746 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,719,296(-) |
C/T NM_001003800.2(BICD2):c.1349G>A (p.Arg450His) |
MISSENSE | |
837169 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,719,159(-) |
G/A NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys) |
MISSENSE | |
838404 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,764,560(-) |
T/G NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) |
MISSENSE | |
840065 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,719,551(-) |
G/A NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant |
|
|
spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant |
|
|
autosomal dominant childhood-onset proximal spinal muscular atrophy |
|
|
autosomal dominant distal hereditary motor neuronopathy |
|
|
muscular atrophy |
|
|