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Protein

von Willebrand factor A domain-containing protein 2

Gene

VWA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • identical protein binding Source: UniProtKB

GO - Biological processi

  • calcium-independent cell-matrix adhesion Source: Ensembl
  • protein homooligomerization Source: UniProtKB
  • regulation of insulin receptor signaling pathway Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 2
Alternative name(s):
A domain-containing protein similar to matrilin and collagen
Short name:
AMACO
Colon cancer secreted protein 2
Short name:
CCSP-2
Gene namesi
Name:VWA2
Synonyms:AMACO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:24709. VWA2.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi340706.
OpenTargetsiENSG00000165816.
PharmGKBiPA142670613.

Polymorphism and mutation databases

DMDMi74722595.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000030736224 – 755von Willebrand factor A domain-containing protein 2Add BLAST732

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi147N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi299 ↔ 310PROSITE-ProRule annotation
Disulfide bondi304 ↔ 320PROSITE-ProRule annotation
Disulfide bondi322 ↔ 332PROSITE-ProRule annotation
Disulfide bondi716 ↔ 727PROSITE-ProRule annotation
Disulfide bondi721 ↔ 736PROSITE-ProRule annotation
Disulfide bondi738 ↔ 747PROSITE-ProRule annotation

Post-translational modificationi

A 55 kDa form is produced by proteolytic cleavage.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei267 – 268Cleavage2

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ5GFL6.
PeptideAtlasiQ5GFL6.
PRIDEiQ5GFL6.

PTM databases

iPTMnetiQ5GFL6.
PhosphoSitePlusiQ5GFL6.

Expressioni

Tissue specificityi

Expression is generally absent in normal colon and other normal body tissues, but it is induced an average of 78-fold in Stage II, III, and IV colon cancers, as well as in colon adenomas and colon cancer cell lines.1 Publication

Gene expression databases

BgeeiENSG00000165816.
CleanExiHS_VWA2.

Organism-specific databases

HPAiHPA037847.

Interactioni

Subunit structurei

Forms monomers and multimers.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF2Q129333EBI-10243723,EBI-355744

GO - Molecular functioni

  • identical protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi131091. 8 interactors.
IntActiQ5GFL6. 1 interactor.
STRINGi9606.ENSP00000298715.

Structurei

3D structure databases

ProteinModelPortaliQ5GFL6.
SMRiQ5GFL6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini51 – 222VWFA 1PROSITE-ProRule annotationAdd BLAST172
Domaini296 – 333EGF-like 1PROSITE-ProRule annotationAdd BLAST38
Domaini343 – 517VWFA 2PROSITE-ProRule annotationAdd BLAST175
Domaini531 – 705VWFA 3PROSITE-ProRule annotationAdd BLAST175
Domaini712 – 748EGF-like 2PROSITE-ProRule annotationAdd BLAST37

Sequence similaritiesi

Contains 2 EGF-like domains.PROSITE-ProRule annotation
Contains 3 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG055835.
InParanoidiQ5GFL6.
OMAiCTLQFDV.
OrthoDBiEOG091G02CV.
PhylomeDBiQ5GFL6.
TreeFamiTF318242.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR030755. VWA2.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR11132:SF117. PTHR11132:SF117. 1 hit.
PfamiPF00008. EGF. 2 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 2 hits.
SM00179. EGF_CA. 2 hits.
SM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 2 hits.
PS50234. VWFA. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5GFL6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPPFLLLEAV CVFLFSRVPP SLPLQEVHVS KETIGKISAA SKMMWCSAAV
60 70 80 90 100
DIMFLLDGSN SVGKGSFERS KHFAITVCDG LDISPERVRV GAFQFSSTPH
110 120 130 140 150
LEFPLDSFST QQEVKARIKR MVFKGGRTET ELALKYLLHR GLPGGRNASV
160 170 180 190 200
PQILIIVTDG KSQGDVALPS KQLKERGVTV FAVGVRFPRW EELHALASEP
210 220 230 240 250
RGQHVLLAEQ VEDATNGLFS TLSSSAICSS ATPDCRVEAH PCEHRTLEMV
260 270 280 290 300
REFAGNAPCW RGSRRTLAVL AAHCPFYSWK RVFLTHPATC YRTTCPGPCD
310 320 330 340 350
SQPCQNGGTC VPEGLDGYQC LCPLAFGGEA NCALKLSLEC RVDLLFLLDS
360 370 380 390 400
SAGTTLDGFL RAKVFVKRFV RAVLSEDSRA RVGVATYSRE LLVAVPVGEY
410 420 430 440 450
QDVPDLVWSL DGIPFRGGPT LTGSALRQAA ERGFGSATRT GQDRPRRVVV
460 470 480 490 500
LLTESHSEDE VAGPARHARA RELLLLGVGS EAVRAELEEI TGSPKHVMVY
510 520 530 540 550
SDPQDLFNQI PELQGKLCSR QRPGCRTQAL DLVFMLDTSA SVGPENFAQM
560 570 580 590 600
QSFVRSCALQ FEVNPDVTQV GLVVYGSQVQ TAFGLDTKPT RAAMLRAISQ
610 620 630 640 650
APYLGGVGSA GTALLHIYDK VMTVQRGARP GVPKAVVVLT GGRGAEDAAV
660 670 680 690 700
PAQKLRNNGI SVLVVGVGPV LSEGLRRLAG PRDSLIHVAA YADLRYHQDV
710 720 730 740 750
LIEWLCGEAK QPVNLCKPSP CMNEGSCVLQ NGSYRCKCRD GWEGPHCENR

FLRRP
Length:755
Mass (Da):82,012
Last modified:March 1, 2005 - v1
Checksum:iE02B99335BE28BEC
GO
Isoform 2 (identifier: Q5GFL6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     708-755: EAKQPVNLCKPSPCMNEGSCVLQNGSYRCKCRDGWEGPHCENRFLRRP → GEWGNPHPQGCPHGRPSA

Show »
Length:725
Mass (Da):78,401
Checksum:iA0B88F49470BCA27
GO
Isoform 3 (identifier: Q5GFL6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-304: Missing.
     305-332: QNGGTCVPEGLDGYQCLCPLAFGGEANC → MEAHVFQKDWTATSASARWPLEGRLTVV
     708-755: EAKQPVNLCKPSPCMNEGSCVLQNGSYRCKCRDGWEGPHCENRFLRRP → GEWGNPHPQGCPHGRPSA

Note: No experimental confirmation available.
Show »
Length:421
Mass (Da):45,345
Checksum:iC0C7932BF705B1FB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76T → A in BAC87116 (PubMed:14702039).Curated1
Sequence conflicti428Q → R in CAD60276 (PubMed:14506275).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0354189A → T.2 PublicationsCorresponds to variant rs9664945dbSNPEnsembl.1
Natural variantiVAR_035419131E → G.1 PublicationCorresponds to variant rs597371dbSNPEnsembl.1
Natural variantiVAR_036641137L → R in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0287371 – 304Missing in isoform 3. 1 PublicationAdd BLAST304
Alternative sequenceiVSP_028738305 – 332QNGGT…GEANC → MEAHVFQKDWTATSASARWP LEGRLTVV in isoform 3. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_028739708 – 755EAKQP…FLRRP → GEWGNPHPQGCPHGRPSA in isoform 2 and isoform 3. 2 PublicationsAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ616914 mRNA. Translation: CAE83814.1.
AJ536328 mRNA. Translation: CAD60276.1.
AY572972 mRNA. Translation: AAT77225.1.
AY572973 Genomic DNA. Translation: AAT77226.1.
AK122716 mRNA. Translation: BAC85505.1.
AK127756 mRNA. Translation: BAC87116.1.
AC005383 Genomic DNA. No translation available.
AC022023 Genomic DNA. No translation available.
BC128588 mRNA. Translation: AAI28589.1.
CCDSiCCDS7589.2. [Q5GFL6-1]
RefSeqiNP_001258975.1. NM_001272046.1. [Q5GFL6-1]
NP_001307733.1. NM_001320804.1. [Q5GFL6-1]
XP_011538059.1. XM_011539757.2. [Q5GFL6-1]
UniGeneiHs.197741.

Genome annotation databases

EnsembliENST00000392982; ENSP00000376708; ENSG00000165816. [Q5GFL6-1]
ENST00000603594; ENSP00000473752; ENSG00000165816. [Q5GFL6-3]
GeneIDi340706.
KEGGihsa:340706.
UCSCiuc001lbl.3. human. [Q5GFL6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ616914 mRNA. Translation: CAE83814.1.
AJ536328 mRNA. Translation: CAD60276.1.
AY572972 mRNA. Translation: AAT77225.1.
AY572973 Genomic DNA. Translation: AAT77226.1.
AK122716 mRNA. Translation: BAC85505.1.
AK127756 mRNA. Translation: BAC87116.1.
AC005383 Genomic DNA. No translation available.
AC022023 Genomic DNA. No translation available.
BC128588 mRNA. Translation: AAI28589.1.
CCDSiCCDS7589.2. [Q5GFL6-1]
RefSeqiNP_001258975.1. NM_001272046.1. [Q5GFL6-1]
NP_001307733.1. NM_001320804.1. [Q5GFL6-1]
XP_011538059.1. XM_011539757.2. [Q5GFL6-1]
UniGeneiHs.197741.

3D structure databases

ProteinModelPortaliQ5GFL6.
SMRiQ5GFL6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131091. 8 interactors.
IntActiQ5GFL6. 1 interactor.
STRINGi9606.ENSP00000298715.

PTM databases

iPTMnetiQ5GFL6.
PhosphoSitePlusiQ5GFL6.

Polymorphism and mutation databases

DMDMi74722595.

Proteomic databases

PaxDbiQ5GFL6.
PeptideAtlasiQ5GFL6.
PRIDEiQ5GFL6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392982; ENSP00000376708; ENSG00000165816. [Q5GFL6-1]
ENST00000603594; ENSP00000473752; ENSG00000165816. [Q5GFL6-3]
GeneIDi340706.
KEGGihsa:340706.
UCSCiuc001lbl.3. human. [Q5GFL6-1]

Organism-specific databases

CTDi340706.
DisGeNETi340706.
GeneCardsiVWA2.
HGNCiHGNC:24709. VWA2.
HPAiHPA037847.
neXtProtiNX_Q5GFL6.
OpenTargetsiENSG00000165816.
PharmGKBiPA142670613.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG055835.
InParanoidiQ5GFL6.
OMAiCTLQFDV.
OrthoDBiEOG091G02CV.
PhylomeDBiQ5GFL6.
TreeFamiTF318242.

Miscellaneous databases

GeneWikiiVWA2.
GenomeRNAii340706.
PROiQ5GFL6.

Gene expression databases

BgeeiENSG00000165816.
CleanExiHS_VWA2.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR030755. VWA2.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR11132:SF117. PTHR11132:SF117. 1 hit.
PfamiPF00008. EGF. 2 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 2 hits.
SM00179. EGF_CA. 2 hits.
SM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 2 hits.
PS50234. VWFA. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVWA2_HUMAN
AccessioniPrimary (citable) accession number: Q5GFL6
Secondary accession number(s): A1A5D4
, B5MDJ8, Q6ZS39, Q6ZWJ7, Q708C5, Q70UZ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: March 1, 2005
Last modified: November 2, 2016
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

May be used as a serological marker for colon neoplasia.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.