Q5GFL6 (VWA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	VWA2
Synonyms:	AMACO

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	755 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	EGF-like domain Repeat Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium-independent cell-matrix adhesion Inferred from electronic annotation. Source: Compara
Cellular_component	basement membrane Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 755	732	von Willebrand factor A domain-containing protein 2		PRO_0000307362
Regions
	Domain	51 – 222	172	VWFA 1
	Domain	296 – 333	38	EGF-like 1
	Domain	343 – 517	175	VWFA 2
	Domain	531 – 705	175	VWFA 3
	Domain	712 – 748	37	EGF-like 2
Sites
	Site	267 – 268	2	Cleavage
Amino acid modifications
	Glycosylation	147	1	N-linked (GlcNAc...) Potential
	Disulfide bond	299 ↔ 310		By similarity
	Disulfide bond	304 ↔ 320		By similarity
	Disulfide bond	322 ↔ 332		By similarity
	Disulfide bond	716 ↔ 727		By similarity
	Disulfide bond	721 ↔ 736		By similarity
	Disulfide bond	738 ↔ 747		By similarity
Natural variations
	Alternative sequence	1 – 304	304	Missing in isoform 3.		VSP_028737
	Alternative sequence	305 – 332	28	QNGGT…GEANC → MEAHVFQKDWTATSASARWP LEGRLTVV in isoform 3.		VSP_028738
	Alternative sequence	708 – 755	48	EAKQP…FLRRP → GEWGNPHPQGCPHGRPSA in isoform 2 and isoform 3.		VSP_028739
	Natural variant	9	1	A → T. Ref.1 Ref.3 Corresponds to variant rs9664945 [ dbSNP | Ensembl ].		VAR_035418
	Natural variant	131	1	E → G. Ref.3 Corresponds to variant rs597371 [ dbSNP | Ensembl ].		VAR_035419
	Natural variant	137	1	L → R in a colorectal cancer sample; somatic mutation. Ref.6		VAR_036641
Experimental info
	Sequence conflict	76	1	T → A in BAC87116. Ref.3
	Sequence conflict	428	1	Q → R in CAD60276. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2005. Version 1. Checksum: E02B99335BE28BEC	FASTA	755	82,012
	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
	Isoform 2 [UniParc]. Checksum: A0B88F49470BCA27	FASTA	725	78,401
	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 LIEWLCGGEW GNPHPQGCPH GRPSA
	Isoform 3 [UniParc]. Checksum: C0C7932BF705B1FB	FASTA	421	45,345
	10 20 30 40 50 60 MEAHVFQKDW TATSASARWP LEGRLTVVAL KLSLECRVDL LFLLDSSAGT TLDGFLRAKV 70 80 90 100 110 120 FVKRFVRAVL SEDSRARVGV ATYSRELLVA VPVGEYQDVP DLVWSLDGIP FRGGPTLTGS 130 140 150 160 170 180 ALRQAAERGF GSATRTGQDR PRRVVVLLTE SHSEDEVAGP ARHARARELL LLGVGSEAVR 190 200 210 220 230 240 AELEEITGSP KHVMVYSDPQ DLFNQIPELQ GKLCSRQRPG CRTQALDLVF MLDTSASVGP 250 260 270 280 290 300 ENFAQMQSFV RSCALQFEVN PDVTQVGLVV YGSQVQTAFG LDTKPTRAAM LRAISQAPYL 310 320 330 340 350 360 GGVGSAGTAL LHIYDKVMTV QRGARPGVPK AVVVLTGGRG AEDAAVPAQK LRNNGISVLV 370 380 390 400 410 420 VGVGPVLSEG LRRLAGPRDS LIHVAAYADL RYHQDVLIEW LCGGEWGNPH PQGCPHGRPS A

References

	« Hide 'large scale' referencesShow '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, 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]	"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. , 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.
IPI	IPI00394834. IPI00645921. IPI00827672.
RefSeq	NP_001258975.1. NM_001272046.1.
UniGene	Hs.735561.
3D structure databases
HSSP	HSSP built from PDB template 1TOZ based on UniProtKB P46531.
ProteinModelPortal	Q5GFL6.
ModBase	Search...
PTM databases
PhosphoSite	Q5GFL6.
Polymorphism databases
DMDM	74722595.
Proteomic databases
PaxDb	Q5GFL6.
PRIDE	Q5GFL6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000298715; ENSP00000298715; ENSG00000165816. ENST00000392982; ENSP00000376708; ENSG00000165816.
GeneID	340706.
KEGG	hsa:340706.
UCSC	uc001lbk.1. human. uc001lbl.1. human. uc009xyf.1. human.
Organism-specific databases
CTD	340706.
GeneCards	GC10P115990.
HGNC	HGNC:24709. VWA2.
HPA	HPA037847.
neXtProt	NX_Q5GFL6.
PharmGKB	PA142670613.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG257441.
HOVERGEN	HBG055835.
OMA	FPRWEEL.
OrthoDB	EOG46T314.
Gene expression databases
Bgee	Q5GFL6.
CleanEx	HS_VWA2.
Genevestigator	Q5GFL6.
Family and domain databases
InterPro	IPR000742. EG-like_dom. IPR013032. EGF-like_CS. IPR002035. VWF_A. [Graphical view]
Pfam	PF00008. EGF. 2 hits. PF00092. VWA. 3 hits. [Graphical view]
SMART	SM00181. EGF. 2 hits. SM00327. VWA. 3 hits. [Graphical view]
PROSITE	PS00022. EGF_1. 1 hit. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 2 hits. PS50234. VWFA. 3 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	340706.
NextBio	98002.

Entry information

Entry name

VWA2_HUMAN

Accession

Primary (citable) accession number: Q5GFL6
Secondary accession number(s): A1A5D4 , B5MDJ8, Q6ZS39, Q6ZWJ7, Q708C5, Q70UZ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	March 1, 2005
Last modified:	May 1, 2013
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.