VANGL2

VANGL2
Identifikatori
Aliasi	VANGL2
Vanjski ID-jevi	OMIM: 600533 MGI: 2135272 HomoloGene: 62161 GeneCards: VANGL2
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	160,428,670 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	171,856,011 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• integral component of membrane; • lateral plasma membrane; • membrana; • cell-cell junction; • ćelijska membrana; • cell pole; • stress fiber; • basolateral plasma membrane; • apical plasma membrane; • COPII-coated ER to Golgi transport vesicle; • cell periphery;
Biološki proces	• hair follicle development; • dopaminergic neuron axon guidance; • cochlea development; • planar dichotomous subdivision of terminal units involved in lung branching morphogenesis; • non-canonical Wnt signaling pathway; • regulation of establishment of planar polarity; • lateral sprouting involved in lung morphogenesis; • inner ear receptor cell stereocilium organization; • regulation of actin cytoskeleton organization; • somatic stem cell population maintenance; • convergent extension involved in axis elongation; • orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis; • positive regulation of JUN kinase activity; • muscular septum morphogenesis; • serotonergic neuron axon guidance; • establishment of planar polarity; • membranous septum morphogenesis; • somatic stem cell division; • planar cell polarity pathway involved in heart morphogenesis; • heparan sulfate proteoglycan biosynthetic process; • Zarastanje rana; • glomerulus development; • establishment of body hair planar orientation; • planar cell polarity pathway involved in axis elongation; • establishment of planar polarity involved in neural tube closure; • planar cell polarity pathway involved in neural tube closure; • multicellular organism development; • heart looping; • Wnt signaling pathway, planar cell polarity pathway; • regulation of Wnt signaling pathway; • neural tube closure; • inner ear receptor cell development; • cochlea morphogenesis; • apical protein localization; • Rho protein signal transduction; • establishment or maintenance of epithelial cell apical/basal polarity; • kidney morphogenesis; • cell migration involved in kidney development; • post-anal tail morphogenesis; • convergent extension involved in neural plate elongation; • convergent extension involved in organogenesis; • anterior/posterior pattern specification; • digestive tract morphogenesis; • planar cell polarity pathway involved in axon guidance; • non-motile cilium assembly;
	Izvori:Amigo / QuickGO
Ortolozi
	57216
	93840
	ENSG00000162738
	ENSMUSG00000026556
	Q9ULK5
	Q91ZD4
	NM_020335
	NM_033509
	NP_065068
	NP_277044
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

VANGL protein planarne polarnolsti ćelije 2 jest protein koji je kod ljudi kodiran genom VANGL2 sa hromosoma 1.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 521 aminokiselina, a molekulska težina 59.714 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MDTESQYSGY	SYKSGHSRSS	RKHRDRRDRH	RSKSRDGGRG	DKSVTIQAPG
EPLLDNESTR	GDERDDNWGE	TTTVVTGTSE	HSISHDDLTR	IAKDMEDSVP
LDCSRHLGVA	AGATLALLSF	LTPLAFLLLP	PLLWREELEP	CGTACEGLFI
SVAFKLLILL	LGSWALFFRR	PKASLPRVFV	LRALLMVLVF	LLVVSYWLFY
GVRILDARER	SYQGVVQFAV	SLVDALLFVH	YLAVVLLELR	QLQPQFTLKV
VRSTDGASRF	YNVGHLSIQR	VAVWILEKYY	HDFPVYNPAL	LNLPKSVLAK
KVSGFKVYSL	GEENSTNNST	GQSRAVIAAA	ARRRDNSHNE	YYYEEAEHER
RVRKRRARLV	VAVEEAFTHI	KRLQEEEQKN	PREVMDPREA	AQAIFASMAR
AMQKYLRTTK	QQPYHTMESI	LQHLEFCITH	DMTPKAFLER	YLAAGPTIQY
HKERWLAKQW	TLVSEEPVTN	GLKDGIVFLL	KRQDFSLVVS	TKKVPFFKLS
EEFVDPKSHK	FVMRLQSETS	V

Funkcija

Protein kodiran genom VANGL2 je membranski protein uključen u regulaciju planarne polarnosti ćelije, posebno u stereocilijskim snopićima kohleje. Kodirani protein prenosi usmjerene signale do pojedinačnih ćelija ili grupa ćelija u epitelnim listoviva. Ovaj protein je takođe uključen u razvoj nervne ploče (obezbedio RefSeq, Sep 2011).

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162738 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026556 - Ensembl, maj 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.
^ "Entrez Gene: VANGL planar cell polarity protein 2". Pristupljeno 5. 7. 2018.
^ "UniProt, Q9ULK5" (jezik: en.). Pristupljeno 10. 12. 2021.CS1 održavanje: nepoznati jezik (link)

Dopunska literatura

Erdal E, Erdal C, Bulut G, Kunter I, Kir M, Atabey N, Açikel U (2007). "Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot". J. Int. Med. Res. 35 (6): 867–72. doi:10.1177/147323000703500614. PMID 18034999. S2CID 28747920.
Cantrell VA, Jessen JR (januar 2010). "The planar cell polarity protein Van Gogh-Like 2 regulates tumor cell migration and matrix metalloproteinase-dependent invasion". Cancer Lett. 287 (1): 54–61. doi:10.1016/j.canlet.2009.05.041. PMID 19577357.
Yates LL, Schnatwinkel C, Murdoch JN, Bogani D, Formstone CJ, Townsend S, Greenfield A, Niswander LA, Dean CH (juni 2010). "The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis". Hum. Mol. Genet. 19 (11): 2251–67. doi:10.1093/hmg/ddq104. PMC 2865378. PMID 20223754.
Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY (juni 2010). "VANGL2 mutations in human cranial neural-tube defects". N. Engl. J. Med. 362 (23): 2232–5. doi:10.1056/NEJMc0910820. PMID 20558380.
Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY (juni 2010). "VANGL2 mutations in human cranial neural-tube defects". N. Engl. J. Med. 362 (23): 2232–5. doi:10.1056/NEJMc0910820. PMID 20558380.
Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P (juli 2011). "Contribution of VANGL2 mutations to isolated neural tube defects". Clin. Genet. 80 (1): 76–82. doi:10.1111/j.1399-0004.2010.01515.x. PMC 3000889. PMID 20738329.
Iliescu A, Gravel M, Horth C, Kibar Z, Gros P (februar 2011). "Loss of membrane targeting of Vangl proteins causes neural tube defects". Biochemistry. 50 (5): 795–804. doi:10.1021/bi101286d. PMID 21142127.
Guo Y, Zanetti G, Schekman R (januar 2013). "A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network". eLife. 2: e00160. doi:10.7554/eLife.00160. PMC 3539332. PMID 23326640.
Piazzi G, Selgrad M, Garcia M, Ceccarelli C, Fini L, Bianchi P, Laghi L, D'Angelo L, Paterini P, Malfertheiner P, Chieco P, Boland CR, Bazzoli F, Ricciardiello L (april 2013). "Van-Gogh-like 2 antagonises the canonical WNT pathway and is methylated in colorectal cancers". Br. J. Cancer. 108 (8): 1750–6. doi:10.1038/bjc.2013.142. PMC 3668461. PMID 23579212.

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162738 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026556 - Ensembl, maj 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.

[entrez-5] "Entrez Gene: VANGL planar cell polarity protein 2". Pristupljeno 5. 7. 2018.

[UniProt-6] "UniProt, Q9ULK5" (jezik: en.). Pristupljeno 10. 12. 2021.CS1 održavanje: nepoznati jezik (link)

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