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Protein

von Willebrand factor A domain-containing protein 2

Gene

VWA2

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

Functioni

Miscellaneous

May be used as a serological marker for colon neoplasia.

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

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

EuPathDBiHostDB:ENSG00000165816.12
HGNCiHGNC:24709 VWA2
neXtProtiNX_Q5GFL6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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...) asparagineSequence 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
ProteomicsDBi62826
62827 [Q5GFL6-2]
62828 [Q5GFL6-3]

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, 10 interactors
IntActiQ5GFL6, 2 interactors
STRINGi9606.ENSP00000298715

Structurei

3D structure databases

ProteinModelPortaliQ5GFL6
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

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00760000119000
HOVERGENiHBG055835
InParanoidiQ5GFL6
OMAiFYSWKRV
OrthoDBiEOG091G02CV
PhylomeDBiQ5GFL6
TreeFamiTF318242

Family and domain databases

Gene3Di3.40.50.410, 3 hits
InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR030755 VWA2
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PANTHERiPTHR44880 PTHR44880, 1 hit
PfamiView protein in Pfam
PF00008 EGF, 2 hits
PF00092 VWA, 3 hits
SMARTiView protein in SMART
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits
SM00327 VWA, 3 hits
SUPFAMiSSF53300 SSF53300, 3 hits
PROSITEiView protein in PROSITE
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 2 hits
PS50234 VWFA, 3 hits

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 → T2 PublicationsCorresponds to variant dbSNP:rs9664945Ensembl.1
Natural variantiVAR_035419131E → G1 PublicationCorresponds to variant dbSNP:rs597371Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiVWA2_HUMAN
AccessioniPrimary (citable) accession number: Q5GFL6
Secondary accession number(s): A1A5D4
, B5MDJ8, Q6ZS39, Q6ZWJ7, Q708C5, Q70UZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: March 1, 2005
Last modified: June 20, 2018
This is version 118 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

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