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

Gene ID: 340706, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See VWA2 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:115933644-115934172 Neighboring gene microRNA 2110 Neighboring gene tudor domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:115998924-115999632 Neighboring gene MPRA-validated peak1096 silencer Neighboring gene aurora kinase A pseudogene 2 Neighboring gene MPRA-validated peak1097 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:116036689-116037189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:116037297-116037798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:116045355-116045966 Neighboring gene actin filament associated protein 1 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2843 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:116079781-116080980 Neighboring gene uncharacterized LOC105378494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:116088199-116088844 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:116097011-116098210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:116110152-116111044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:116164296-116164796 Neighboring gene RNA, 7SL, cytoplasmic 384, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease. Hoogmartens J, et al. Neurobiol Aging, 2021 Mar. PMID 33023779
  2. Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia. Xin B, et al. Oncogene, 2005 Jan 20. PMID 15580307
  3. A rapid cloning method employing orthogonal end protection. Jakobi AJ, et al. PLoS One, 2012. PMID 22685543, Free PMC Article
  4. Epigenetic and transcriptional dysregulation of VWA2 associated with a MYC-driven oncogenic program in colorectal cancer. González B, et al. Sci Rep, 2018 Jul 23. PMID 30038405, Free PMC Article
  5. A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13. Zhou M, et al. Blood, 2011 Apr 28. PMID 21385852

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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).
  7. 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.
  8. 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.
  9. 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC157755

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 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)

  1. 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 ...

  2. 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    114239254..114294500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425155.1 → XP_047281111.1  von Willebrand factor A domain-containing protein 2 isoform X5

  2. XM_017016179.3 → XP_016871668.1  von Willebrand factor A domain-containing protein 2 isoform X3

  3. XM_017016178.2 → XP_016871667.1  von Willebrand factor A domain-containing protein 2 isoform X2

  4. XM_017016177.2 → XP_016871666.1  von Willebrand factor A domain-containing protein 2 isoform X1

  5. XM_017016181.2 → XP_016871670.1  von Willebrand factor A domain-containing protein 2 isoform X7

  6. 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 ...

  7. 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

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    115132880..115188608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365728.1 → XP_054221703.1  von Willebrand factor A domain-containing protein 2 isoform X5

  2. XM_054365726.1 → XP_054221701.1  von Willebrand factor A domain-containing protein 2 isoform X3

  3. XM_054365725.1 → XP_054221700.1  von Willebrand factor A domain-containing protein 2 isoform X2

  4. XM_054365724.1 → XP_054221699.1  von Willebrand factor A domain-containing protein 2 isoform X1

  5. XM_054365730.1 → XP_054221705.1  von Willebrand factor A domain-containing protein 2 isoform X7

  6. XM_054365727.1 → XP_054221702.1  von Willebrand factor A domain-containing protein 2 isoform X4

  7. XM_054365729.1 → XP_054221704.1  von Willebrand factor A domain-containing protein 2 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198496.1: Suppressed sequence

    Description
    NM_198496.1: This RefSeq was permanently suppressed because there is not support for the 3' end.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5GFL6.1 GenPept UniProtKB/Swiss-Prot:Q5GFL6

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