VWA2

Protein identityUniProt · HPA

UniProt accession

Q5GFL6

Gene

VWA2

Ensembl

ENSG00000165816

Chromosome

10

Canonical length

755 aa

Protein class

Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

755 residues, UniProt reviewed canonical sequence.

>Q5GFL6|VWA2
     1  MPPFLLLEAV CVFLFSRVPP SLPLQEVHVS KETIGKISAA SKMMWCSAAV DIMFLLDGSN
    61  SVGKGSFERS KHFAITVCDG LDISPERVRV GAFQFSSTPH LEFPLDSFST QQEVKARIKR
   121  MVFKGGRTET ELALKYLLHR GLPGGRNASV PQILIIVTDG KSQGDVALPS KQLKERGVTV
   181  FAVGVRFPRW EELHALASEP RGQHVLLAEQ VEDATNGLFS TLSSSAICSS ATPDCRVEAH
   241  PCEHRTLEMV REFAGNAPCW RGSRRTLAVL AAHCPFYSWK RVFLTHPATC YRTTCPGPCD
   301  SQPCQNGGTC VPEGLDGYQC LCPLAFGGEA NCALKLSLEC RVDLLFLLDS SAGTTLDGFL
   361  RAKVFVKRFV RAVLSEDSRA RVGVATYSRE LLVAVPVGEY QDVPDLVWSL DGIPFRGGPT
   421  LTGSALRQAA ERGFGSATRT GQDRPRRVVV LLTESHSEDE VAGPARHARA RELLLLGVGS
   481  EAVRAELEEI TGSPKHVMVY SDPQDLFNQI PELQGKLCSR QRPGCRTQAL DLVFMLDTSA
   541  SVGPENFAQM QSFVRSCALQ FEVNPDVTQV GLVVYGSQVQ TAFGLDTKPT RAAMLRAISQ
   601  APYLGGVGSA GTALLHIYDK VMTVQRGARP GVPKAVVVLT GGRGAEDAAV PAQKLRNNGI
   661  SVLVVGVGPV LSEGLRRLAG PRDSLIHVAA YADLRYHQDV LIEWLCGEAK QPVNLCKPSP
   721  CMNEGSCVLQ NGSYRCKCRD GWEGPHCENR FLRRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VWA2 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

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

8.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VWA2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 75 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Vesicoureteral reflux

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)

1.39

gnomAD pLI

0

gnomAD missense Z

-0.01

DepMap mean gene effect

-0.06

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

Biological processes

• calcium-independent cell-matrix adhesion
• regulation of insulin receptor signaling pathway

Molecular functions

• calcium ion binding
• identical protein binding

Cellular components

• basement membrane
• extracellular exosome
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• EGF-like domain
• EGF-like calcium-binding domain
• von Willebrand factor, type A
• von Willebrand factor A-like domain superfamily
• Extracellular Matrix Assembly and Organization
• EGF-like domain
• von Willebrand factor type A domain

KeywordsUniProt

• Disulfide bond
• EGF-like domain
• Glycoprotein
• Repeat
• Secreted
• Signal