BICD2 - BICD cargo adaptor 2 Gene
Also Known as SMALED2; SMALED2A; SMALED2B; bA526D8.1
Species: Homo sapiens
About BICD2
This gene has 2 transcripts (splice variants), 276 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 24.1), esophagus (RPKM 14.2) and 24 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001003800.2 | NP_001003800.1 | protein bicaudal D homolog 2 isoform 1 |
| NM_015250.4 | NP_056065.1 | protein bicaudal D homolog 2 isoform 2 |
BICD2 Protein Structure
BicD: Microtubule-associated protein Bicaudal-D (83 - 801)
- 0
- 200
- 400
- 600
- 824 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein bicaudal D homolog 2 |
|
BICD2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
BICD2 | Q8TD16 | RAB6A | Homo sapiens | P20340 | 23664119 | |
|
Intra
|
BICD2 | Q8TD16 | RAB6A | Homo sapiens | P20340 | 23664119 | |
|
Intra
|
BICD2 | Q8TD16 | DYNC1I1 | Homo sapiens | O14576 | 23664119 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant |
|
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| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant |
|
|
| Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 |
|
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| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
|
| Muscular Atrophy |
|
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| Distal Arthrogryposis |
|
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| Spinal Muscular Atrophy |
|
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| Spinal Muscular Atrophy With Lower Extremity Predominant |
|
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| Myopathy |
|
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| Perry Syndrome |
|
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| Intellectual Developmental Disorder, Autosomal Dominant 13 |
|
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| Spastic Ataxia 2 |
|
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| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
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| Spinal Muscular Atrophy, Type Ii |
|
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| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
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| Polymicrogyria |
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| Motor Neuron Disease |
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| Hereditary Spastic Paraplegia |
|
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| Distal Hereditary Motor Neuronopathy Type 7 |
|
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| Motor Peripheral Neuropathy |
|
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| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
|
| Childhood Spinal Muscular Atrophy |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
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| Scapuloperoneal Spinal Muscular Atrophy |
|
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| Mitochondrial Dna Depletion Syndrome 3 |
|
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| Multiple Pterygium Syndrome, Escobar Variant |
|
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| Neuromuscular Disease |
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| Charcot-Marie-Tooth Disease |
|
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| Congenital Nervous System Abnormality |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | BICD2 | VGNC | VGNC:38451 |
| Bos taurus | BICD2 | VGNC | VGNC:26492 |
| Mus musculus | BICD2 | MGD | MGI:1924145 |
| Macaca mulatta | BICD2 | VGNC | VGNC:70333 |
| Rattus norvegicus | BICD2 | RGD | RGD:735093 |
| Others | BICD2 | NCBI |