VWA2 - von Willebrand factor A domain containing 2 Gene

Also Known as AMACO; CCSP2; NET42; CCSP-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 340706

About VWA2

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:114,239,254-114,294,500 (from NCBI)

This gene has 3 transcripts (splice variants), 179 orthologues and 12 paralogues. Broad expression in stomach (RPKM 3.7), prostate (RPKM 3.3) and 18 other tissues.

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 of Collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon Cancer. [provided by RefSeq, Jan 2013]

VWA2 Products (2)

mRNA	Protein	Name
NM_001272046.2	NP_001258975.1	von Willebrand factor A domain-containing protein 2 precursor
NM_001320804.1	NP_001307733.1	von Willebrand factor A domain-containing protein 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	14506275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of insulin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	15699509	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	14506275	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VWA2 Protein Structure

VWA

EGF

VWA

EGF

0
200
400
600
755 a.a.

Protein Preferred Names	Protein Names
von Willebrand factor A domain-containing protein 2	a domain-containing protein similar to matrilin and collagen

VWA2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VWA2	Q5GFL6	TRAF2	Homo sapiens	Q12933	Validated Y2H	25416956
Intra	VWA2	Q5GFL6	TRAF2	Homo sapiens	Q12933	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Type 1 Diabetes Mellitus 17	Diabetes Mellitus, Insulin-Dependent, 17 Iddm17 Insulin-Dependent Diabetes Mellitus 17 TID17 Insulin-Dependent Diabetes Mellitus-17
Type 1 Diabetes Mellitus 7	Diabetes Mellitus, Insulin-Dependent, 7 Iddm7 Insulin-Dependent Diabetes Mellitus 7 T1D7
Inflammatory Bowel Disease 13	IBD13 Bowel Disease, Inflammatory, Type 13
Kummell'S Disease	Traumatic Spondylopathy Kummell Disease Kummell'S Spondylitis Kümmelll-Verneuil Disease Kümmell Spondylitis Kümmell Disease Traumatic Spondylosis
Deafness, Autosomal Recessive 103	DFNB103 Autosomal Recessive Nonsyndromic Deafness 103 Autosomal Recessive Deafness 103 Deafness, Autosomal Recessive, 103 Deafness, Autosomal Recessive, Type 103
Colon Adenoma	Adenomatous Polyp Of Colon
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Colonic Benign Neoplasm	Colon Neoplasm Colonic Mass Colonic Tumor Neoplasm Of Colon Neoplasm Of The Colon Colonic Neoplasms Colon Cancer Colon Carcinoma Nos Colonic Cancer Metastatic Colon Cancer Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15726	VWA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VWA2	VGNC	VGNC:48319
Bos taurus	VWA2	VGNC	VGNC:36851
Rattus norvegicus	VWA2	RGD	RGD:1562000
Mus musculus	VWA2	MGD	MGI:2684334
Macaca mulatta	VWA2	VGNC	VGNC:79449
Felis catus	VWA2	VGNC	VGNC:82515
Others	VWA2	NCBI