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Q5GFL6

- VWA2_HUMAN

UniProt

Q5GFL6 - VWA2_HUMAN

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Protein

von Willebrand factor A domain-containing protein 2

Gene
VWA2, AMACO
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei267 – 2682Cleavage

GO - Molecular functioni

  1. identical protein binding Source: UniProt

GO - Biological processi

  1. calcium-independent cell-matrix adhesion Source: Ensembl
  2. protein homooligomerization Source: UniProt
  3. regulation of insulin receptor signaling pathway Source: UniProt
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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:24709. VWA2.

Subcellular locationi

GO - Cellular componenti

  1. basement membrane Source: Ensembl
  2. extracellular space Source: UniProt
  3. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670613.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed predictionAdd
BLAST
Chaini24 – 755732von Willebrand factor A domain-containing protein 2PRO_0000307362Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi147 – 1471N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi299 ↔ 310 By similarity
Disulfide bondi304 ↔ 320 By similarity
Disulfide bondi322 ↔ 332 By similarity
Disulfide bondi716 ↔ 727 By similarity
Disulfide bondi721 ↔ 736 By similarity
Disulfide bondi738 ↔ 747 By similarity

Post-translational modificationi

A 55 kDa form is produced by proteolytic cleavage.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ5GFL6.
PRIDEiQ5GFL6.

PTM databases

PhosphoSiteiQ5GFL6.

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

BgeeiQ5GFL6.
CleanExiHS_VWA2.
GenevestigatoriQ5GFL6.

Organism-specific databases

HPAiHPA037847.

Interactioni

Subunit structurei

Forms monomers and multimers By similarity.

Structurei

3D structure databases

ProteinModelPortaliQ5GFL6.
SMRiQ5GFL6. Positions 51-200, 339-751.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini51 – 222172VWFA 1Add
BLAST
Domaini296 – 33338EGF-like 1Add
BLAST
Domaini343 – 517175VWFA 2Add
BLAST
Domaini531 – 705175VWFA 3Add
BLAST
Domaini712 – 74837EGF-like 2Add
BLAST

Sequence similaritiesi

Contains 2 EGF-like domains.
Contains 3 VWFA domains.

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG257441.
HOVERGENiHBG055835.
OMAiFPRWEEL.
OrthoDBiEOG71P290.
PhylomeDBiQ5GFL6.
TreeFamiTF318242.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00008. EGF. 2 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 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. Align

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

MPPFLLLEAV CVFLFSRVPP SLPLQEVHVS KETIGKISAA SKMMWCSAAV    50
DIMFLLDGSN SVGKGSFERS KHFAITVCDG LDISPERVRV GAFQFSSTPH 100
LEFPLDSFST QQEVKARIKR MVFKGGRTET ELALKYLLHR GLPGGRNASV 150
PQILIIVTDG KSQGDVALPS KQLKERGVTV FAVGVRFPRW EELHALASEP 200
RGQHVLLAEQ VEDATNGLFS TLSSSAICSS ATPDCRVEAH PCEHRTLEMV 250
REFAGNAPCW RGSRRTLAVL AAHCPFYSWK RVFLTHPATC YRTTCPGPCD 300
SQPCQNGGTC VPEGLDGYQC LCPLAFGGEA NCALKLSLEC RVDLLFLLDS 350
SAGTTLDGFL RAKVFVKRFV RAVLSEDSRA RVGVATYSRE LLVAVPVGEY 400
QDVPDLVWSL DGIPFRGGPT LTGSALRQAA ERGFGSATRT GQDRPRRVVV 450
LLTESHSEDE VAGPARHARA RELLLLGVGS EAVRAELEEI TGSPKHVMVY 500
SDPQDLFNQI PELQGKLCSR QRPGCRTQAL DLVFMLDTSA SVGPENFAQM 550
QSFVRSCALQ FEVNPDVTQV GLVVYGSQVQ TAFGLDTKPT RAAMLRAISQ 600
APYLGGVGSA GTALLHIYDK VMTVQRGARP GVPKAVVVLT GGRGAEDAAV 650
PAQKLRNNGI SVLVVGVGPV LSEGLRRLAG PRDSLIHVAA YADLRYHQDV 700
LIEWLCGEAK QPVNLCKPSP CMNEGSCVLQ NGSYRCKCRD GWEGPHCENR 750
FLRRP 755
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91A → T.2 Publications
Corresponds to variant rs9664945 [ dbSNP | Ensembl ].
VAR_035418
Natural varianti131 – 1311E → G.1 Publication
Corresponds to variant rs597371 [ dbSNP | Ensembl ].
VAR_035419
Natural varianti137 – 1371L → R in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036641

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 304304Missing in isoform 3. VSP_028737Add
BLAST
Alternative sequencei305 – 33228QNGGT…GEANC → MEAHVFQKDWTATSASARWP LEGRLTVV in isoform 3. VSP_028738Add
BLAST
Alternative sequencei708 – 75548EAKQP…FLRRP → GEWGNPHPQGCPHGRPSA in isoform 2 and isoform 3. VSP_028739Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti76 – 761T → A in BAC87116. 1 Publication
Sequence conflicti428 – 4281Q → R in CAD60276. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.197741.

Genome annotation databases

EnsembliENST00000392982; ENSP00000376708; ENSG00000165816. [Q5GFL6-1]
ENST00000603594; ENSP00000473752; ENSG00000165816. [Q5GFL6-2]
GeneIDi340706.
KEGGihsa:340706.
UCSCiuc001lbk.2. human. [Q5GFL6-2]
uc001lbl.2. human. [Q5GFL6-1]
uc009xyf.2. human. [Q5GFL6-3]

Polymorphism databases

DMDMi74722595.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7589.2. [Q5GFL6-1 ]
RefSeqi NP_001258975.1. NM_001272046.1. [Q5GFL6-1 ]
UniGenei Hs.197741.

3D structure databases

ProteinModelPortali Q5GFL6.
SMRi Q5GFL6. Positions 51-200, 339-751.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q5GFL6.

Polymorphism databases

DMDMi 74722595.

Proteomic databases

PaxDbi Q5GFL6.
PRIDEi Q5GFL6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000392982 ; ENSP00000376708 ; ENSG00000165816 . [Q5GFL6-1 ]
ENST00000603594 ; ENSP00000473752 ; ENSG00000165816 . [Q5GFL6-2 ]
GeneIDi 340706.
KEGGi hsa:340706.
UCSCi uc001lbk.2. human. [Q5GFL6-2 ]
uc001lbl.2. human. [Q5GFL6-1 ]
uc009xyf.2. human. [Q5GFL6-3 ]

Organism-specific databases

CTDi 340706.
GeneCardsi GC10P115990.
HGNCi HGNC:24709. VWA2.
HPAi HPA037847.
neXtProti NX_Q5GFL6.
PharmGKBi PA142670613.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG257441.
HOVERGENi HBG055835.
OMAi FPRWEEL.
OrthoDBi EOG71P290.
PhylomeDBi Q5GFL6.
TreeFami TF318242.

Miscellaneous databases

GeneWikii VWA2.
GenomeRNAii 340706.
NextBioi 98002.
PROi Q5GFL6.

Gene expression databases

Bgeei Q5GFL6.
CleanExi HS_VWA2.
Genevestigatori Q5GFL6.

Family and domain databases

Gene3Di 3.40.50.410. 3 hits.
InterProi IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR002035. VWF_A.
[Graphical view ]
Pfami PF00008. EGF. 2 hits.
PF00092. VWA. 3 hits.
[Graphical view ]
SMARTi SM00181. EGF. 2 hits.
SM00327. VWA. 3 hits.
[Graphical view ]
SUPFAMi SSF53300. SSF53300. 3 hits.
PROSITEi PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 2 hits.
PS50234. VWFA. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-137.

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: July 9, 2014
This is version 88 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

External Data

Dasty 3

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