Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	340706
Gene name	Von Willebrand factor A domain containing 2
Gene symbol	VWA2
Synonyms (NCBI Gene)	AMACOCCSP-2CCSP2NET42
Chromosome	10
Chromosome location	10q25.3
Summary	This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds o

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miRTarBase ID	miRNA	Experiments	Reference
MIRT709452	hsa-miR-512-5p	HITS-CLIP	19536157
MIRT709451	hsa-miR-6769a-3p	HITS-CLIP	19536157
MIRT709450	hsa-miR-4690-3p	HITS-CLIP	19536157
MIRT709449	hsa-miR-5685	HITS-CLIP	19536157
MIRT709448	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT709447	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT709446	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT709452	hsa-miR-512-5p	HITS-CLIP	19536157
MIRT709451	hsa-miR-6769a-3p	HITS-CLIP	19536157
MIRT709450	hsa-miR-4690-3p	HITS-CLIP	19536157
MIRT709449	hsa-miR-5685	HITS-CLIP	19536157
MIRT709448	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT709447	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT709446	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT1488254	hsa-miR-1243	CLIP-seq
MIRT1488255	hsa-miR-1290	CLIP-seq
MIRT1488256	hsa-miR-1587	CLIP-seq
MIRT1488257	hsa-miR-3135b	CLIP-seq
MIRT1488258	hsa-miR-3167	CLIP-seq
MIRT1488259	hsa-miR-3652	CLIP-seq
MIRT1488260	hsa-miR-4423-5p	CLIP-seq
MIRT1488261	hsa-miR-4430	CLIP-seq
MIRT1488262	hsa-miR-4492	CLIP-seq
MIRT1488263	hsa-miR-4498	CLIP-seq
MIRT1488264	hsa-miR-4656	CLIP-seq
MIRT1488265	hsa-miR-4674	CLIP-seq
MIRT1488266	hsa-miR-4675	CLIP-seq
MIRT1488267	hsa-miR-4709-3p	CLIP-seq
MIRT1488268	hsa-miR-4741	CLIP-seq
MIRT1488269	hsa-miR-762	CLIP-seq
MIRT1488270	hsa-miR-876-5p	CLIP-seq
MIRT2147012	hsa-miR-197	CLIP-seq
MIRT2147013	hsa-miR-24	CLIP-seq
MIRT2147014	hsa-miR-302a	CLIP-seq
MIRT2147015	hsa-miR-302b	CLIP-seq
MIRT2147016	hsa-miR-302c	CLIP-seq
MIRT2147017	hsa-miR-302d	CLIP-seq
MIRT2147018	hsa-miR-302e	CLIP-seq
MIRT2147019	hsa-miR-3614-5p	CLIP-seq
MIRT2147020	hsa-miR-372	CLIP-seq
MIRT2147021	hsa-miR-373	CLIP-seq
MIRT2147022	hsa-miR-4284	CLIP-seq
MIRT2147023	hsa-miR-4634	CLIP-seq
MIRT2147024	hsa-miR-4747-5p	CLIP-seq
MIRT2147025	hsa-miR-520a-3p	CLIP-seq
MIRT2147026	hsa-miR-520b	CLIP-seq
MIRT2147027	hsa-miR-520c-3p	CLIP-seq
MIRT2147028	hsa-miR-520d-3p	CLIP-seq
MIRT2147029	hsa-miR-520e	CLIP-seq
MIRT2147030	hsa-miR-652	CLIP-seq
MIRT2147012	hsa-miR-197	CLIP-seq
MIRT2147013	hsa-miR-24	CLIP-seq
MIRT1488257	hsa-miR-3135b	CLIP-seq
MIRT1488259	hsa-miR-3652	CLIP-seq
MIRT2147022	hsa-miR-4284	CLIP-seq
MIRT1488260	hsa-miR-4423-5p	CLIP-seq
MIRT1488261	hsa-miR-4430	CLIP-seq
MIRT2147023	hsa-miR-4634	CLIP-seq
MIRT2147030	hsa-miR-652	CLIP-seq
MIRT2463349	hsa-miR-1297	CLIP-seq
MIRT2463350	hsa-miR-1976	CLIP-seq
MIRT2463351	hsa-miR-26a	CLIP-seq
MIRT2463352	hsa-miR-26b	CLIP-seq
MIRT2463353	hsa-miR-4279	CLIP-seq
MIRT2463354	hsa-miR-4421	CLIP-seq
MIRT2463355	hsa-miR-4465	CLIP-seq
MIRT2463356	hsa-miR-4532	CLIP-seq
MIRT2463349	hsa-miR-1297	CLIP-seq
MIRT2463350	hsa-miR-1976	CLIP-seq
MIRT2463351	hsa-miR-26a	CLIP-seq
MIRT2463352	hsa-miR-26b	CLIP-seq
MIRT2463353	hsa-miR-4279	CLIP-seq
MIRT2463354	hsa-miR-4421	CLIP-seq
MIRT2463355	hsa-miR-4465	CLIP-seq
MIRT2463356	hsa-miR-4532	CLIP-seq
MIRT2661030	hsa-miR-593	CLIP-seq
MIRT2463349	hsa-miR-1297	CLIP-seq
MIRT2463350	hsa-miR-1976	CLIP-seq
MIRT2463351	hsa-miR-26a	CLIP-seq
MIRT2463352	hsa-miR-26b	CLIP-seq
MIRT2463353	hsa-miR-4279	CLIP-seq
MIRT2463354	hsa-miR-4421	CLIP-seq
MIRT2463355	hsa-miR-4465	CLIP-seq
MIRT2463356	hsa-miR-4532	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IBA
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	14506275
GO:0005615	Component	Extracellular space	IEA
GO:0007161	Process	Calcium-independent cell-matrix adhesion	IBA
GO:0007161	Process	Calcium-independent cell-matrix adhesion	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0042802	Function	Identical protein binding	IDA	14506275
GO:0042802	Function	Identical protein binding	IEA
GO:0046626	Process	Regulation of insulin receptor signaling pathway	IMP	15699509
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
618281	24709	ENSG00000165816

Q5GFL6

Protein name

von Willebrand factor A domain-containing protein 2 (A domain-containing protein similar to matrilin and collagen) (AMACO) (Colon cancer secreted protein 2) (CCSP-2)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	51 → 221	von Willebrand factor type A domain	Domain
PF00008	EGF	299 → 329	EGF-like domain	Domain
PF00092	VWA	343 → 512	von Willebrand factor type A domain	Domain
PF00092	VWA	531 → 698	von Willebrand factor type A domain	Domain
PF00008	EGF	716 → 746	EGF-like domain	Domain

Tissue specificity

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. {ECO:0000269|PubMed

Sequence

MPPFLLLEAVCVFLFSRVPPSLPLQEVHVSKETIGKISAASKMMWCSAAVDIMFLLDGSN
SVGKGSFERSKHFAITVCDGLDISPERVRVGAFQFSSTPHLEFPLDSFSTQQEVKARIKR
MVFKGGRTETELALKYLLHRGLPGGRNASVPQILIIVTDGKSQGDVALPSKQLKERGVTV
FAVGVRFPRWEELHALASEPRGQHVLLAEQVEDATNGLFSTLSSSAICSSATPDCRVEAH
PCEHRTLEMVREFAGNAPCWRGSRRTLAVLAAHCPFYSWKRVFLTHPATCYRTTCPGPCD
SQPCQNGGTCVPEGLDGYQCLCPLAFGGEANCALKLSLECRVDLLFLLDSSAGTTLDGFL
RAKVFVKRFVRAVLSEDSRARVGVATYSRELLVAVPVGEYQDVPDLVWSLDGIPFRGGPT
LTGSALRQAAERGFGSATRTGQDRPRRVVVLLTESHSEDEVAGPARHARARELLLLGVGS
EAVRAELEEITGSPKHVMVYSDPQDLFNQIPELQGKLCSRQRPGCRTQALDLVFMLDTSA
SVGPENFAQMQSFVRSCALQFEVNPDVTQVGLVVYGSQVQTAFGLDTKPTRAAMLRAISQ
APYLGGVGSAGTALLHIYDKVMTVQRGARPGVPKAVVVLTGGRGAEDAAVPAQKLRNNGI
SVLVVGVGPVLSEGLRRLAGPRDSLIHVAAYADLRYHQDVLIEWLCGEAKQPVNLCKPSP
CMNEGSCVLQNGSYRCKCRDGWEGPHCENRFLRRP

Sequence length

755

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Vesicoureteral reflux	Likely pathogenic	rs148731211	RCV000845170	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF KIDNEY AND URINARY TRACT	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VWA2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	33023779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	29351342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	28886423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15580307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30038405, 31179210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26474385, 33572952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28886423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30038405	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15699509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15699509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15699509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28886423, 30038405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28886423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	29351342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

VWA2 (von Willebrand factor A domain containing 2)