BICD2 (original) (raw)

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Protein-coding gene in the species Homo sapiens

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]Band9q22.31Start92,711,363 bp[1]End92,764,833 bp[1]
Gene location (Mouse)Chr.Chromosome 13 (mouse)[2]Band13|13 A5Start49,495,061 bp[2]End49,540,502 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed ingingival epitheliumhair folliclehuman penisnipplevulvaskin of armoral cavityskin of thighskin of hipmucosa of pharynxTop expressed inRostral migratory streaminternal carotid arteryexternal carotid arterytrigeminal ganglioninterventricular septummyocardium of ventricleright lung lobeskin of external earretinal pigment epitheliumatrioventricular valveMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez2329976895EnsemblENSG00000185963ENSMUSG00000037933UniProtQ8TD16Q921C5RefSeq (mRNA)NM_015250NM_001003800NM_001039179NM_001039180NM_029791RefSeq (protein)NP_001003800NP_056065NP_001034268NP_001034269NP_084067Location (UCSC)Chr 9: 92.71 – 92.76 MbChr 13: 49.5 – 49.54 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/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.

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185963 – Ensembl, May 2017
2. ^ a b c 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. ^ a b "Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)".

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

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.