VWA2 - von Willebrand factor A domain containing 2 Gene

Homo sapiens

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

Gene ID: 340706 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in regulation of insulin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	15699509	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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