VWA3B

Protein identityUniProt · HPA

UniProt accession

Q502W6

Gene

VWA3B

Ensembl

ENSG00000168658

Chromosome

2

Canonical length

1294 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

1294 residues, UniProt reviewed canonical sequence.

>Q502W6|VWA3B
     1  MEKSGPSSTI SEQQLQRQEG WINTKTDLAE QSLISSEKWL QLHGLKSNKL TLKQILSQIG
    61  FPHCEDYVAS LGRPVASRYA DGLFPQLYRA EDGRVYNLTA KSELIYQFVE HLTQAVESYK
   121  QRMDWLTSKS RQIFGVILEQ CVTIVLDFGG ILEGELDLCR EALTMVLQEQ VAHITEFNII
   181  RVSQEPVKWQ ENATPVTEQS IATAISWVEK LTVELTVSEA GRLDALLEAG RDKTIESIYY
   241  FVVGDVPEES KELLLQRALE IPCPVYTVSF NARGEGTIAF LKDLSAKTHS RFHAFAERTE
   301  CVEFPAFSTK DGDNVMTWNS RKLKGKLPPG AGVREDVFLV WQEMEEACST LAQIQRLVAE
   361  PPKPDVATVD CESETTSVEI ASNPEDTWDS KTWLQKYGLK AQKLSLYDVL ADCSFRHADG
   421  VVDIKAKPEN ESVQTSAETN KKTVHAKYCS RFVHAPWKDG SLVHVNITKE KCKWYSERIH
   481  TALARIRRRI KWLQDGSQSL FGRLHNDCIY ILIDTSHSMK SKLDLVKDKI IQFIQEQLKY
   541  KSKFNFVKFD GQAVAWREQL AEVNEDNLEQ AQSWIRDIKI GSSTNTLSAL KTAFADKETQ
   601  AIYLLTDGRP DQPPETVIDQ VKRFQEIPIY TISFNYNDEI ANRFLKEVAA LTGGEFHFYN
   661  FGCKDPTPPE AVQNEDLTLL VKEMEQGHSD LEKMQDLYSE SLIMDWWYNA EKDGDSKHQK
   721  EICSMISTPE KCAKPQSDVD STQTSSLNML KGPWGLSDQK VQKKKVLHAE STKTSLLRSQ
   781  MSSLRSSACS ERKDGLSNAS SRRTALSDKE MSILLAEEWL DDKSSEKVTR EGSQVYDHDS
   841  SDVSSENWLK TYGLVAKKLT LMDALSVAAV PHSSTYVPVL DKHVVSKVFD EVFPLAHVCN
   901  DTNKMTLINP QGAKLNIYKR KVEQAIQSYE KRLNKIVWRA LSQEEKEKLD ANKPIQYLEN
   961  KTVLNQALER LNWPISLKEL SMLESEILAG KMYIQQAMEL QEAAKKNYAN KAPGEQQKLQ
  1021  GNPTKKTKSK RPDPLKGQKV IARCDENGFY FPGVVKKCVS RTQALVGFSY GDTKVVSTSF
  1081  ITPVGGAMPC PLLQVGDYVF AKIVIPKGFD FYVPAIVIAL PNKHVATEKF YTVLKCNNRR
  1141  EFCPRSALIK ISQNKYALSC SHIKSPPIPE DPEVEDVEAR NSAFLFWPLK EADTQDSREP
  1201  RREKPRRKKR PAKQPLQQAA PSDSDGSSHG ISSHGSCQGT HPEPRTAHLH FPAAGRLGLS
  1261  SHAIIATPPP RAALPCTLQA THSSKGLRSV PETL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VWA3B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VWA3B.

Disease | AllUniProt

Conditions VWA3B is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) MIM:616948

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spinocerebellar ataxia, autosomal recessive 22

Disease | ImmuneIEDB

Conditions an epitope on VWA3B was assayed in.

• human immunodeficiency virus infectious disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

0.26

DepMap mean gene effect

-0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• cytosol
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• von Willebrand factor, type A
• Domain of unknown function DUF4537
• von Willebrand factor A-like domain superfamily
• von Willebrand factor type A domain
• Domain of unknown function (DUF4537)

KeywordsUniProt

• Cytoplasm
• Intellectual disability
• Neurodegeneration