BICD2

BICD2
Identifiers
Aliases	BICD2 , SMALED2, bA526D8.1, BICD cargo adaptor 2, SMALED2B, SMALED2A
External IDs	OMIM: 609797; MGI: 1924145; HomoloGene: 9070; GeneCards: BICD2; OMA:BICD2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q22.31 Start 92,711,363 bp [1] End 92,764,833 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 A5 Start 49,495,061 bp [2] End 49,540,502 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gingival epithelium hair follicle human penis nipple vulva skin of arm oral cavity skin of thigh skin of hip mucosa of pharynx Top expressed in Rostral migratory stream internal carotid artery external carotid artery trigeminal ganglion interventricular septum myocardium of ventricle right lung lobe skin of external ear retinal pigment epithelium atrioventricular valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding dynein light intermediate chain binding dynactin binding dynein complex binding cytoskeletal anchor activity Cellular component plasma membrane Golgi apparatus cytoskeleton cytoplasmic vesicle nucleus nuclear envelope lamellae anulatae nuclear pore cytoplasm cytosol centrosome Biological process microtubule-based movement minus-end-directed organelle transport along microtubule microtubule anchoring at microtubule organizing center retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum protein transport mRNA transport centrosome localization transport protein localization to Golgi apparatus regulation of microtubule cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23299 76895 Ensembl ENSG00000185963 ENSMUSG00000037933 UniProt Q8TD16 Q921C5 RefSeq (mRNA) NM_015250 NM_001003800 NM_001039179 NM_001039180 NM_029791 RefSeq (protein) NP_001003800 NP_056065 NP_001034268 NP_001034269 NP_084067 Location (UCSC) Chr 9: 92.71 – 92.76 Mb Chr 13: 49.5 – 49.54 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Bicaudal D cargo adaptor 2 is a protein that in humans is encoded by the BICD2 gene. ^{[5] [6]}

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. ^[6]

Mutations in BICD2 are associated with spinal muscular atrophy with lower extremity predominance type 2A and type 2B.

References

1. GRCh38: Ensembl release 89: ENSG00000185963 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037933 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, et al. (Dec 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi: 10.1093/dnares/5.3.169 . PMID   9734811.
6. "Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)".

Further reading

• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID   15144186.
• Fuchs E, Short B, Barr FA (2005). "Assay and Properties of Rab6 Interaction with Dynein–Dynactin Complexes". GTPases Regulating Membrane Targeting and Fusion. Methods in Enzymology. Vol. 403. pp.  607–18. doi:10.1016/S0076-6879(05)03053-3. ISBN   978-0-12-182808-0. PMID   16473624.
• Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Holland PM, Milne A, Garka K, Johnson RS, Willis C, Sims JE, et al. (2002). "Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2". J. Biol. Chem. 277 (18): 16229–40. doi: 10.1074/jbc.M108662200 . PMID   11864968.
• Hoogenraad CC, Akhmanova A, Howell SA, Dortland BR, De Zeeuw CI, Willemsen R, et al. (2001). "Mammalian Golgi-associated Bicaudal-D2 functions in the dynein–dynactin pathway by interacting with these complexes". EMBO J. 20 (15): 4041–54. doi:10.1093/emboj/20.15.4041. PMC   149157 . PMID   11483508.
• Hoogenraad CC, Wulf P, Schiefermeier N, Stepanova T, Galjart N, Small JV, et al. (2004). "Bicaudal D induces selective dynein-mediated microtubule minus end-directed transport". EMBO J. 22 (22): 6004–15. doi:10.1093/emboj/cdg592. PMC   275447 . PMID   14609947.
• Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.
• Matanis T, Akhmanova A, Wulf P, Del Nery E, Weide T, Stepanova T, et al. (2003). "Bicaudal-D regulates COPI-independent Golgi-ER transport by recruiting the dynein-dynactin motor complex". Nat. Cell Biol. 4 (12): 986–92. doi:10.1038/ncb891. PMID   12447383. S2CID   7953140.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID   15592455. S2CID   7200157.
• Short B, Preisinger C, Schaletzky J, Kopajtich R, Barr FA (2003). "The Rab6 GTPase regulates recruitment of the dynactin complex to Golgi membranes". Curr. Biol. 12 (20): 1792–5. Bibcode:2002CBio...12.1792S. doi: 10.1016/S0960-9822(02)01221-6 . PMID   12401177. S2CID   14031165.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.

External links

• Human BICD2 genome location and BICD2 gene details page in the UCSC Genome Browser .