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Q5GFL6

- VWA2_HUMAN

UniProt

Q5GFL6 - VWA2_HUMAN

Protein

von Willebrand factor A domain-containing protein 2

Gene

VWA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Mar 2005)
      Previous versions | rss
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    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

    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

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670613.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    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...)Sequence Analysis
    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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti76 – 761T → A in BAC87116. (PubMed:14702039)Curated
    Sequence conflicti428 – 4281Q → R in CAD60276. (PubMed:14506275)Curated

    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. 1 PublicationVSP_028737Add
    BLAST
    Alternative sequencei305 – 33228QNGGT…GEANC → MEAHVFQKDWTATSASARWP LEGRLTVV in isoform 3. 1 PublicationVSP_028738Add
    BLAST
    Alternative sequencei708 – 75548EAKQP…FLRRP → GEWGNPHPQGCPHGRPSA in isoform 2 and isoform 3. 2 PublicationsVSP_028739Add
    BLAST

    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

    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: October 1, 2014
    This is version 89 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