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Q5GFL6 (VWA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:VWA2
Synonyms:AMACO
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length755 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Forms monomers and multimers By similarity.

Subcellular location

Secreted.

Tissue specificity

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. Ref.2

Post-translational modification

A 55 kDa form is produced by proteolytic cleavage.

Miscellaneous

May be used as a serological marker for colon neoplasia.

Sequence similarities

Contains 2 EGF-like domains.

Contains 3 VWFA domains.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5GFL6-1)

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.
Isoform 2 (identifier: Q5GFL6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     708-755: EAKQPVNLCKPSPCMNEGSCVLQNGSYRCKCRDGWEGPHCENRFLRRP → GEWGNPHPQGCPHGRPSA
Isoform 3 (identifier: Q5GFL6-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 755732von Willebrand factor A domain-containing protein 2
PRO_0000307362

Regions

Domain51 – 222172VWFA 1
Domain296 – 33338EGF-like 1
Domain343 – 517175VWFA 2
Domain531 – 705175VWFA 3
Domain712 – 74837EGF-like 2

Sites

Site267 – 2682Cleavage

Amino acid modifications

Glycosylation1471N-linked (GlcNAc...) Potential
Disulfide bond299 ↔ 310 By similarity
Disulfide bond304 ↔ 320 By similarity
Disulfide bond322 ↔ 332 By similarity
Disulfide bond716 ↔ 727 By similarity
Disulfide bond721 ↔ 736 By similarity
Disulfide bond738 ↔ 747 By similarity

Natural variations

Alternative sequence1 – 304304Missing in isoform 3.
VSP_028737
Alternative sequence305 – 33228QNGGT…GEANC → MEAHVFQKDWTATSASARWP LEGRLTVV in isoform 3.
VSP_028738
Alternative sequence708 – 75548EAKQP…FLRRP → GEWGNPHPQGCPHGRPSA in isoform 2 and isoform 3.
VSP_028739
Natural variant91A → T. Ref.1 Ref.3
Corresponds to variant rs9664945 [ dbSNP | Ensembl ].
VAR_035418
Natural variant1311E → G. Ref.3
Corresponds to variant rs597371 [ dbSNP | Ensembl ].
VAR_035419
Natural variant1371L → R in a colorectal cancer sample; somatic mutation. Ref.6
VAR_036641

Experimental info

Sequence conflict761T → A in BAC87116. Ref.3
Sequence conflict4281Q → R in CAD60276. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2005. Version 1.
Checksum: E02B99335BE28BEC

FASTA75582,012
        10         20         30         40         50         60 
MPPFLLLEAV CVFLFSRVPP SLPLQEVHVS KETIGKISAA SKMMWCSAAV DIMFLLDGSN 

        70         80         90        100        110        120 
SVGKGSFERS KHFAITVCDG LDISPERVRV GAFQFSSTPH LEFPLDSFST QQEVKARIKR 

       130        140        150        160        170        180 
MVFKGGRTET ELALKYLLHR GLPGGRNASV PQILIIVTDG KSQGDVALPS KQLKERGVTV 

       190        200        210        220        230        240 
FAVGVRFPRW EELHALASEP RGQHVLLAEQ VEDATNGLFS TLSSSAICSS ATPDCRVEAH 

       250        260        270        280        290        300 
PCEHRTLEMV REFAGNAPCW RGSRRTLAVL AAHCPFYSWK RVFLTHPATC YRTTCPGPCD 

       310        320        330        340        350        360 
SQPCQNGGTC VPEGLDGYQC LCPLAFGGEA NCALKLSLEC RVDLLFLLDS SAGTTLDGFL 

       370        380        390        400        410        420 
RAKVFVKRFV RAVLSEDSRA RVGVATYSRE LLVAVPVGEY QDVPDLVWSL DGIPFRGGPT 

       430        440        450        460        470        480 
LTGSALRQAA ERGFGSATRT GQDRPRRVVV LLTESHSEDE VAGPARHARA RELLLLGVGS 

       490        500        510        520        530        540 
EAVRAELEEI TGSPKHVMVY SDPQDLFNQI PELQGKLCSR QRPGCRTQAL DLVFMLDTSA 

       550        560        570        580        590        600 
SVGPENFAQM QSFVRSCALQ FEVNPDVTQV GLVVYGSQVQ TAFGLDTKPT RAAMLRAISQ 

       610        620        630        640        650        660 
APYLGGVGSA GTALLHIYDK VMTVQRGARP GVPKAVVVLT GGRGAEDAAV PAQKLRNNGI 

       670        680        690        700        710        720 
SVLVVGVGPV LSEGLRRLAG PRDSLIHVAA YADLRYHQDV LIEWLCGEAK QPVNLCKPSP 

       730        740        750 
CMNEGSCVLQ NGSYRCKCRD GWEGPHCENR FLRRP 

« Hide

Isoform 2 [UniParc].

Checksum: A0B88F49470BCA27
Show »

FASTA72578,401
Isoform 3 [UniParc].

Checksum: C0C7932BF705B1FB
Show »

FASTA42145,345

References

« Hide 'large scale' references
[1]"Identification and characterization of AMACO, a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney."
Sengle G., Kobbe B., Moergelin M., Paulsson M., Wagener R.
J. Biol. Chem. 278:50240-50249(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-9.
Tissue: Placenta.
[2]"Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia."
Xin B., Platzer P., Fink S.P., Reese L., Nosrati A., Willson J.K.V., Wilson K., Markowitz S.
Oncogene 24:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, PROTEOLYTIC PROCESSING, IDENTIFICATION BY MASS SPECTROMETRY.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS THR-9 AND GLY-131.
Tissue: Brain and Tongue.
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-137.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS7589.2. [Q5GFL6-1]
RefSeqNP_001258975.1. NM_001272046.1. [Q5GFL6-1]
UniGeneHs.197741.

3D structure databases

ProteinModelPortalQ5GFL6.
SMRQ5GFL6. Positions 51-200, 339-751.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ5GFL6.

Polymorphism databases

DMDM74722595.

Proteomic databases

PaxDbQ5GFL6.
PRIDEQ5GFL6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000392982; ENSP00000376708; ENSG00000165816. [Q5GFL6-1]
ENST00000603594; ENSP00000473752; ENSG00000165816. [Q5GFL6-2]
GeneID340706.
KEGGhsa:340706.
UCSCuc001lbk.2. human. [Q5GFL6-2]
uc001lbl.2. human. [Q5GFL6-1]
uc009xyf.2. human. [Q5GFL6-3]

Organism-specific databases

CTD340706.
GeneCardsGC10P115990.
HGNCHGNC:24709. VWA2.
HPAHPA037847.
neXtProtNX_Q5GFL6.
PharmGKBPA142670613.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG257441.
HOVERGENHBG055835.
OMAFPRWEEL.
OrthoDBEOG71P290.
PhylomeDBQ5GFL6.
TreeFamTF318242.

Gene expression databases

BgeeQ5GFL6.
CleanExHS_VWA2.
GenevestigatorQ5GFL6.

Family and domain databases

Gene3D3.40.50.410. 3 hits.
InterProIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR002035. VWF_A.
[Graphical view]
PfamPF00008. EGF. 2 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTSM00181. EGF. 2 hits.
SM00327. VWA. 3 hits.
[Graphical view]
SUPFAMSSF53300. SSF53300. 3 hits.
PROSITEPS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 2 hits.
PS50234. VWFA. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiVWA2.
GenomeRNAi340706.
NextBio98002.
PROQ5GFL6.

Entry information

Entry nameVWA2_HUMAN
AccessionPrimary (citable) accession number: Q5GFL6
Secondary accession number(s): A1A5D4 expand/collapse secondary AC list , B5MDJ8, Q6ZS39, Q6ZWJ7, Q708C5, Q70UZ8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: March 1, 2005
Last modified: July 9, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM