VWA2 von Willebrand factor A domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VWA2provided by HGNC
Official Full Name: von Willebrand factor A domain containing 2provided by HGNC
Primary source: HGNC:HGNC:24709
See related: Ensembl:ENSG00000165816 MIM:618281; AllianceGenome:HGNC:24709
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMACO; CCSP2; NET42; CCSP-2
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]
Expression: Broad expression in stomach (RPKM 3.7), prostate (RPKM 3.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (114239254..114294500)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (115132880..115188608)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (115999013..116054259)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease.
Title: Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease.
VWA2 might be a constituent of a larger oncogenic transcriptional program regulated by c-Myc.
Title: Epigenetic and transcriptional dysregulation of VWA2 associated with a MYC-driven oncogenic program in colorectal cancer.
We have revealed a novel Ca((2)+)-binding site at the A2 domain of VWF and demonstrated a relationship between Ca((2)+) and force in the regulation of VWF and primary hemostasis
Title: A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
By kinetic analysis of recombinant ADAMTS13 constructs, we show that the first thrombospondin-1, Cys-rich, and spacer domains of ADAMTS13 interact with segments of VWF domain A2 between Gln(1624) and Arg(1668).
Title: Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity.
O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO
Title: O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein).
AMACO is a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney
Title: 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.
Single nucleotide polymorphisms in the AMACO gene are associated with dominant protection against Type 1A diabetes in an Arab family.
Title: IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family.
CCSP-2 is a novel candidate for development as a diagnostic serum marker of early stage colon cancer
Title: Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S554 (e-PCR), detects polymorphism
- UniSTS:52005

D10S16 (e-PCR)
- UniSTS:155756

SHGC-83858 (e-PCR)
- UniSTS:101829

SHGC-2018 (e-PCR)
- UniSTS:40390

GDB:631802 (e-PCR)
- UniSTS:158429

SHGC-2018 (e-PCR)
- UniSTS:173298

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium-independent cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: von Willebrand factor A domain-containing protein 2

Names: a domain-containing protein similar to matrilin and collagen; colon cancer diagnostic marker; colon cancer secreted protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001272046.2 → NP_001258975.1 von Willebrand factor A domain-containing protein 2 precursor

See identical proteins and their annotated locations for NP_001258975.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC005383, AI870708, AJ536328, AK122716, AY572972, BF355787, BF754676, BF802655, BF849816, CA487263, DA170480, DB210781, DB349964

Consensus CDS

CCDS7589.2

UniProtKB/Swiss-Prot

A1A5D4, B5MDJ8, Q5GFL6, Q6ZS39, Q6ZWJ7, Q708C5, Q70UZ8

Related

ENSP00000376708.3, ENST00000392982.8

Conserved Domains (5) summary

cd00054
Location:713 → 748

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd01472
Location:50 → 205

vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...

pfam00008
Location:299 → 329

EGF; EGF-like domain

pfam00092
Location:343 → 516

VWA; von Willebrand factor type A domain

cl00057
Location:531 → 661

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_001320804.1 → NP_001307733.1 von Willebrand factor A domain-containing protein 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC005383, AC022023, DB349964

Consensus CDS

CCDS7589.2

UniProtKB/Swiss-Prot

A1A5D4, B5MDJ8, Q5GFL6, Q6ZS39, Q6ZWJ7, Q708C5, Q70UZ8

Conserved Domains (5) summary

cd00054
Location:713 → 748

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd01472
Location:50 → 205

vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...

pfam00008
Location:299 → 329

EGF; EGF-like domain

pfam00092
Location:343 → 516

VWA; von Willebrand factor type A domain

cl00057
Location:531 → 661

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

114239254..114294500

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425155.1 → XP_047281111.1 von Willebrand factor A domain-containing protein 2 isoform X5
XM_017016179.3 → XP_016871668.1 von Willebrand factor A domain-containing protein 2 isoform X3
XM_017016178.2 → XP_016871667.1 von Willebrand factor A domain-containing protein 2 isoform X2
XM_017016177.2 → XP_016871666.1 von Willebrand factor A domain-containing protein 2 isoform X1
XM_017016181.2 → XP_016871670.1 von Willebrand factor A domain-containing protein 2 isoform X7
XM_011539754.3 → XP_011538056.1 von Willebrand factor A domain-containing protein 2 isoform X4

Conserved Domains (4) summary

cd00054
Location:716 → 751

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:302 → 332

EGF; EGF-like domain

pfam00092
Location:346 → 519

VWA; von Willebrand factor type A domain

cl00057
Location:534 → 664

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_017016180.2 → XP_016871669.2 von Willebrand factor A domain-containing protein 2 isoform X6

Related

ENSP00000473752.2, ENST00000603594.2

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

115132880..115188608

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365728.1 → XP_054221703.1 von Willebrand factor A domain-containing protein 2 isoform X5
XM_054365726.1 → XP_054221701.1 von Willebrand factor A domain-containing protein 2 isoform X3
XM_054365725.1 → XP_054221700.1 von Willebrand factor A domain-containing protein 2 isoform X2
XM_054365724.1 → XP_054221699.1 von Willebrand factor A domain-containing protein 2 isoform X1
XM_054365730.1 → XP_054221705.1 von Willebrand factor A domain-containing protein 2 isoform X7
XM_054365727.1 → XP_054221702.1 von Willebrand factor A domain-containing protein 2 isoform X4
XM_054365729.1 → XP_054221704.1 von Willebrand factor A domain-containing protein 2 isoform X6