BICD2 (BICD cargo adaptor 2)

2007-04-01  

Identity

HGNC
BICD2
LOCATION
9q22.31
LOCUSID
23299
ALIAS
SMALED2,SMALED2A,SMALED2B,bA526D8.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23299
MIM: 609797
HGNC: 17208
Ensembl: ENSG00000185963

Variants:

dbSNP: 23299
ClinVar: 23299
TCGA: ENSG00000185963
COSMIC: BICD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185963ENST00000356884Q8TD16
ENSG00000185963ENST00000375512Q8TD16

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
236641162013Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.53
236641202013Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.45
236641192013Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.37
118649682002Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2.23
288830392017Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.17
291804352017Bicaudal D2 facilitates the cytoplasmic trafficking and nuclear import of HIV-1 genomes during infection.17
245078842014Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci.14
254978772015Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.12
230974942012Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.9
259626232015Reconstitution of the targeting of Rab6A to the Golgi apparatus in semi-intact HeLa cells: A role of BICD2 in stabilizing Rab6A on Golgi membranes and a concerted role of Rab6A/BICD2 interactions in Golgi-to-ER retrograde transport.9

Citation

Dessen P

BICD2 (BICD cargo adaptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46791/bicd2-(bicd-cargo-adaptor-2)