InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Vangl2

Summary

InnateDB Protein

IDBP-204901.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Vangl2

Protein Name

vang-like 2 (van gogh, Drosophila)

Synonyms

C530001F03Rik; loop-tail; Lp; Lpp1; Ltap; ska; ska17; stbm; strabismus; Vang1l2;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000027837

InnateDB Gene

IDBG-204899 (Vangl2)

Protein Structure

UniProt Annotation

Function

Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. {ECO:0000269PubMed:12724779, ECO:0000269PubMed:15637299}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:23029439}; Multi-pass membrane protein {ECO:0000269PubMed:23029439}.

Disease Associations

Note=Defects in Vangl2 are a cause of the loop-tail (Lp) mutant phenotype. Heterozygous Lp mice exhibit a characteristic looped tail, while homozygous embryos show a completely open neural tube in the hindbrain and spinal region, a condition similar to the severe craniorachischisis defect in humans. Homozygotes also have complex cardiovascular defects including double-outlet right ventricle, perimembranous ventricular defects, double-sided aortic arch and associated abnormalities in the aortic arch arteries. Homozygotes show cytoplasmic accumulation of Vangl2 instead of the normal membrane localization, and Rhoa expression, which is detected in the mesenchymal cushion cells adjacent to the outflow tract, is lost in homozygotes. Homozygous embryos typically die shortly before or at birth. {ECO:0000269PubMed:11440971}.

Tissue Specificity

Primarily expressed in the brain and epididymis. Not detected in the cochlea of Lp mice. {ECO:0000269PubMed:11431695, ECO:0000269PubMed:11709546, ECO:0000269PubMed:12724779, ECO:0000269PubMed:16687519}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	4 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001569	patterning of blood vessels
GO:0001736	establishment of planar polarity
GO:0001843	neural tube closure
GO:0001942	hair follicle development
GO:0001947	heart looping
GO:0003148	outflow tract septum morphogenesis
GO:0003149	membranous septum morphogenesis
GO:0003150	muscular septum morphogenesis
GO:0003347	epicardial cell to mesenchymal cell transition
GO:0003402	planar cell polarity pathway involved in axis elongation
GO:0007266	Rho protein signal transduction
GO:0007275	multicellular organismal development
GO:0009952	anterior/posterior pattern specification
GO:0022007	convergent extension involved in neural plate elongation
GO:0030111	regulation of Wnt signaling pathway
GO:0032835	glomerulus development
GO:0032956	regulation of actin cytoskeleton organization
GO:0035019	somatic stem cell maintenance
GO:0035058	nonmotile primary cilium assembly
GO:0035567	non-canonical Wnt signaling pathway
GO:0035787	cell migration involved in kidney development
GO:0036342	post-anal tail morphogenesis
GO:0042060	wound healing
GO:0043507	positive regulation of JUN kinase activity
GO:0045176	apical protein localization
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity
GO:0048103	somatic stem cell division
GO:0048105	establishment of body hair planar orientation
GO:0048546	digestive tract morphogenesis
GO:0060028	convergent extension involved in axis elongation
GO:0060029	convergent extension involved in organogenesis
GO:0060071	Wnt signaling pathway, planar cell polarity pathway
GO:0060119	inner ear receptor cell development
GO:0060122	inner ear receptor stereocilium organization
GO:0060488	orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis
GO:0060489	planar dichotomous subdivision of terminal units involved in lung branching morphogenesis
GO:0060490	lateral sprouting involved in lung morphogenesis
GO:0060947	cardiac vascular smooth muscle cell differentiation
GO:0060993	kidney morphogenesis
GO:0061346	planar cell polarity pathway involved in heart morphogenesis
GO:0090102	cochlea development
GO:0090103	cochlea morphogenesis
GO:0090162	establishment of epithelial cell polarity
GO:0090175	regulation of establishment of planar polarity
GO:0090177	establishment of planar polarity involved in neural tube closure
GO:0090179	planar cell polarity pathway involved in neural tube closure

Cellular Component

GO:0001725	stress fiber
GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane
GO:0030134	ER to Golgi transport vesicle
GO:0060187	cell pole
GO:0071944	cell periphery