BICD2: Difference between revisions

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)
End	92,764,833 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	49,540,502 bp
RNA expression pattern
	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
	; ; ; ;
	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
	23299
	76895
	ENSG00000185963
	ENSMUSG00000037933
	Q8TD16
	Q921C5
	NM_015250; NM_001003800
	NM_001039179; NM_001039180; NM_029791
	NP_001003800; NP_056065
	NP_001034268; NP_001034269; NP_084067
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 15:41, 28 June 2025

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

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185963 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037933 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)".

External links

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.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000185963 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9734811-5] 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.

[entrez-6] "Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)".

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@@ Line 1: / Line 1: @@
 {{Short description|Protein-coding gene in the species Homo sapiens}}
 {{cs1 config|name-list-style=vanc|display-authors=6}}
-{{Infobox_gene}}
+{{Uncategorized|date=June 2025}}{{Infobox_gene}}
 '''Bicaudal D cargo adaptor 2''' is a [[protein]] that in humans is encoded by the ''BICD2'' [[gene]].<ref name="pmid9734811">{{cite journal | vauthors = Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res | volume = 5 | issue = 3 | pages = 169–76 |date=Dec 1998 | pmid = 9734811 | doi =10.1093/dnares/5.3.169  | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23299}}</ref>
 This gene is one of two human [[homolog]]s of [[Drosophila]] bicaudal-D and a member of the [[Bicoid (gene)|Bicoid]] family. It has been implicated in [[dynein]]-mediated, minus end-directed [[motility]] along [[microtubule]]s. It has also been reported to be a [[phosphorylation]] target of NIMA related [[kinase]] 8. Two alternative splice variants have been described.<ref name="entrez" />
+== Mutations ==
 Mutations in ''BICD2'' are associated with spinal muscular atrophy with lower extremity predominance [[Spinal muscular atrophy with lower extremity predominance 2A|type 2A]] and [[Spinal muscular atrophy with lower extremity predominance 2B|type 2B]].

Revision as of 15:41, 28 June 2025

Mutations

References

External links

Further reading