VANGL2

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

VANGL2
Identifikatori
Aliasi	VANGL2
Vanjski ID-jevi	OMIM: 600533 MGI: 2135272 HomoloGene: 62161 GeneCards: VANGL2
Lokacija gena (čovjek) Hrom. Hromosom 1 (čovjek) Bend 1q23.2 Početak 160,400,564 bp Kraj 160,428,670 bp
Lokacija gena (miš) Hrom. Hromosom 1 (miš) Bend 1 H3|1 79.54 cM Početak 171,828,527 bp 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
Vrste	Čovjek	Miš
Entrez	57216	93840
Ensembl	ENSG00000162738	ENSMUSG00000026556
UniProt	Q9ULK5	Q91ZD4
RefSeq (mRNK)	NM_020335	NM_033509
RefSeq (bjelančevina)	NP_065068	NP_277044
Lokacija (UCSC)	Chr 1: 160.4 – 160.43 Mb	Chr 1: 171.83 – 171.86 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 521 aminokiselina, a molekulska težina 59.714 Da.

• 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).

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.