Reactome | UniProt:Q9ULK5 VANGL2

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UniProt:Q9ULK5 VANGL2 Show undefined attributes

chain	chain:1-521
checksum	0E1FFE4ACC102560
comment	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. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity).SUBUNIT Homodimer and heterodimer with VANGL1. Interacts through its C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction. Also interacts with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3 (By similarity). Interacts with PRICKLE3 (By similarity).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Vang family.SEQUENCE CAUTION Extended N-terminus.
crossReference	[DatabaseIdentifier:12167074] PDB:6XA8 [DatabaseIdentifier:12406919] RefSeq:XP_054193780.1 [DatabaseIdentifier:12406921] RefSeq:NP_065068.1 [DatabaseIdentifier:12406922] RefSeq:XP_054193781.1 [DatabaseIdentifier:12406918] RefSeq:XP_047281976.1 [DatabaseIdentifier:12406920] RefSeq:XP_005245414.1 [DatabaseIdentifier:12406917] RefSeq:XP_011508106.1 [DatabaseIdentifier:12283589] Pharos - Targets:Q9ULK5 [DatabaseIdentifier:12242332] PRO:Q9ULK5 [DatabaseIdentifier:12167079] PDB:9JKA [DatabaseIdentifier:11489443] ENSEMBL:ENSG00000162738 [DatabaseIdentifier:11595396] ENSEMBL:ENSP00000357040 [DatabaseIdentifier:11718095] ENSEMBL:ENST00000368061 [DatabaseIdentifier:11785672] GeneCards:VANGL2 [DatabaseIdentifier:11838757] HPA:ENSG00000162738-VANGL2 [DatabaseIdentifier:12123270] OpenTargets:ENSG00000162738 [DatabaseIdentifier:12137874] Orphanet:VANGL2 [DatabaseIdentifier:12167075] PDB:6XA7 [DatabaseIdentifier:12167080] PDB:6XA6 [DatabaseIdentifier:12167077] PDB:7R2T [DatabaseIdentifier:12167076] PDB:9JK7 [DatabaseIdentifier:12167078] PDB:7R2M
databaseName	UniProt
dbId	104606
description	recommendedName: Vang-like protein 2 alternativeName: Loop-tail protein 1 homolog alternativeName: Strabismus 1 alternativeName: Van Gogh-like protein 2
displayName	UniProt:Q9ULK5 VANGL2
geneName	VANGL2 KIAA1215 STB1
identifier	Q9ULK5
isSequenceChanged	false
keyword	3D-structure Cell membrane Developmental protein Disease variant Membrane Proteomics identification Reference proteome Transmembrane Transmembrane helix
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	VANGL2
otherIdentifier	11721740_at 11721741_at 16672635 226029_PM_at 226029_at 2363141 2363142 2363143 2363144 2363149 2363150 2363151 2363152 2363154 2363156 2363157 2363158 2363159 2363160 2363162 57216 7906602 90296_at A_33_P3282005 GE53831 GO:0001725 GO:0001736 GO:0001843 GO:0001942 GO:0001947 GO:0003149 GO:0003150 GO:0005515 GO:0005886 GO:0005911 GO:0006790 GO:0007163 GO:0007266 GO:0007275 GO:0009952 GO:0015012 GO:0016020 GO:0016323 GO:0016324 GO:0016328 GO:0022007 GO:0030111 GO:0030134 GO:0031410 GO:0032835 GO:0032956 GO:0035019 GO:0035567 GO:0035787 GO:0036342 GO:0036514 GO:0036515 GO:0042060 GO:0044782 GO:0045176 GO:0045197 GO:0048103 GO:0048105 GO:0048546 GO:0048856 GO:0048870 GO:0060028 GO:0060029 GO:0060071 GO:0060119 GO:0060122 GO:0060187 GO:0060488 GO:0060489 GO:0060490 GO:0060993 GO:0071944 GO:0090102 GO:0090103 GO:0090175 GO:0090177 GO:0090651 GO:0098839 GO:0098978 GO:1901135 GO:1905515 GO:1905806 HMNXSV003026171 Hs.137507.0.S1_3p_at ILMN_1715647 PH_hs_0008298 TC01001369.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-3965373] VANGL2 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4551547] pS5,S82,S84-VANGL2 [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000162738] ENSEMBL:ENSG00000162738 VANGL2 [ReferenceDNASequence:12748111] UCSC:Q9ULK5 VANGL2 [ReferenceDNASequence:11354675] BioGPS Gene:57216 VANGL2 [ReferenceDNASequence:11401350] COSMIC - genes:VANGL2 VANGL2 [ReferenceDNASequence:11410268] CTD Gene:57216 VANGL2 [ReferenceDNASequence:11438654] dbSNP Gene:57216 VANGL2 [ReferenceDNASequence:11817303] HGNC:15511 VANGL2 [ReferenceDNASequence:11894210] KEGG:hsa:57216 VANGL2 [ReferenceDNASequence:11984464] Monarch:57216 VANGL2 [ReferenceDNASequence:12068557] NCBI Gene:57216 VANGL2 [ReferenceDNASequence:12108805] OMIM:600533 VANGL2
referenceTranscript	[ReferenceRNASequence:12588615] RefSeq:NM_020335.3 VANGL2 [ReferenceRNASequence:12588618] RefSeq:XM_011509804.2 VANGL2 [ReferenceRNASequence:12588617] RefSeq:XM_047426020.1 VANGL2 [ReferenceRNASequence:12588616] RefSeq:XM_005245357.2 VANGL2 [ReferenceRNASequence:12588613] RefSeq:XM_054337806.1 VANGL2 [ReferenceRNASequence:12588614] RefSeq:XM_054337805.1 VANGL2
schemaClass	ReferenceGeneProduct
secondaryIdentifier	VANG2_HUMAN D3DVE9 Q5T212
sequenceLength	521
species	[Species:48887] Homo sapiens
stId	uniprot:Q9ULK5
url	http://purl.uniprot.org/uniprot/Q9ULK5

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-3965373] VANGL2 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-4551547] pS5,S82,S84-VANGL2 [plasma membrane]
(referenceSequence)	[ModifiedResidue:4551509] O-phospho-L-serine at 5 [ModifiedResidue:4551511] O-phospho-L-serine at 82 [ModifiedResidue:4551513] O-phospho-L-serine at 84
(interactor)	[UndirectedInteraction:11137079] UniProt:O14641 <-> UniProt:Q9ULK5 (IntAct) [UndirectedInteraction:11222405] UniProt:Q9H4G0 <-> UniProt:Q9ULK5 (IntAct) [UndirectedInteraction:11247087] UniProt:P11142 <-> UniProt:Q9ULK5 (IntAct) [UndirectedInteraction:11248077] UniProt:Q9ULK5 <-> UniProt:Q9H307 (IntAct) [UndirectedInteraction:11248079] UniProt:Q9ULK5 <-> UniProt:Q8NFN8 (IntAct) [UndirectedInteraction:11248081] UniProt:Q9ULK5 <-> UniProt:Q92997 (IntAct) [UndirectedInteraction:11248083] UniProt:Q9ULK5 <-> UniProt:P21589 (IntAct) [UndirectedInteraction:11248085] UniProt:Q9ULK5 <-> UniProt:Q9NQ34 (IntAct) [UndirectedInteraction:11248087] UniProt:Q9ULK5 <-> UniProt:Q8WWF5 (IntAct) [UndirectedInteraction:11248089] UniProt:Q9ULK5 <-> UniProt:Q496J9 (IntAct) [UndirectedInteraction:11248091] UniProt:Q9ULK5 <-> UniProt:Q9H8J5 (IntAct) [UndirectedInteraction:11248093] UniProt:Q9ULK5 <-> UniProt:P22460 (IntAct) [UndirectedInteraction:11248095] UniProt:Q9ULK5 <-> UniProt:Q8TBK6 (IntAct) [UndirectedInteraction:11248097] UniProt:Q9ULK5 <-> UniProt:Q9BQ31 (IntAct) [UndirectedInteraction:11248099] UniProt:Q9ULK5 <-> UniProt:Q96JJ6 (IntAct) [UndirectedInteraction:11248101] UniProt:Q9ULK5 <-> UniProt:P34741 (IntAct) [UndirectedInteraction:11248103] UniProt:Q9ULK5 <-> UniProt:O43291 (IntAct) [UndirectedInteraction:11248105] UniProt:Q9ULK5 <-> UniProt:Q7Z4V5 (IntAct) [UndirectedInteraction:11248107] UniProt:Q9ULK5 <-> UniProt:P33151 (IntAct) [UndirectedInteraction:11248109] UniProt:Q9ULK5 <-> UniProt:P26045 (IntAct)

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