Vwa2 von Willebrand factor A domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vwa2provided by MGI
Official Full Name: von Willebrand factor A domain containing 2provided by MGI
Primary source: MGI:MGI:2684334
See related: Ensembl:ENSMUSG00000025082 AllianceGenome:MGI:2684334
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Amaco
Summary: Enables identical protein binding activity. Acts upstream of or within calcium-independent cell-matrix adhesion. Located in basement membrane and extracellular space. Is expressed in several structures, including bone; lung; metanephros; skin; and tooth. Orthologous to human VWA2 (von Willebrand factor A domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in genital fat pad adult (RPKM 6.7), kidney adult (RPKM 4.4) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 D2; 19 52.02 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (56862848..56900510)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (56874416..56912078)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal-Epidermal Junction of Mouse Skin.
Title: The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal-Epidermal Junction of Mouse Skin.
Our data suggest that AMACO represents a member of the Fraser complex.
Title: AMACO is a component of the basement membrane-associated Fraser complex.
Murine AMACO localizes subjacent to the basement membrane in kidney and skin. AMACO supports beta1 integrin-mediated adhesion of a keratinocyte-like cell line, HaCaT, and a fibroblast cell line, Wi26, in an RGD-dependent manner.
Title: Mouse AMACO, a kidney and skin basement membrane associated molecule that mediates RGD-dependent cell attachment.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)
Endonuclease-mediated (1)

General gene information

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Markers

Vwa2 (e-PCR), detects polymorphism
- UniSTS:547541

Gene Ontology Provided by MGI

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 identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium-independent cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within calcium-independent cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within calcium-independent cell-matrix adhesion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay 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
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: VWA-like domains, matrilins and collagens; a domain-containing protein similar to matrilin and collagen

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_172840.2 → NP_766428.2 von Willebrand factor A domain-containing protein 2 precursor

See identical proteins and their annotated locations for NP_766428.2

Status: VALIDATED

Source sequence(s)

AJ536329, AK029297, BX631538

Consensus CDS

CCDS29923.1

UniProtKB/Swiss-Prot

Q14AY2, Q14BI0, Q3UM88, Q70UZ7

UniProtKB/TrEMBL

Q8CE01

Related

ENSMUSP00000026068.8, ENSMUST00000026068.8

Conserved Domains (5) summary

cd00054
Location:712 → 747

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 → 204

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:298 → 328

EGF; EGF-like domain

pfam00092
Location:342 → 515

VWA; von Willebrand factor type A domain

cl00057
Location:530 → 687

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

56862848..56900510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527090.1 → XP_006527153.1 von Willebrand factor A domain-containing protein 2 isoform X1

Conserved Domains (4) summary

cd00054
Location:532 → 567

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:118 → 148

EGF; EGF-like domain

pfam00092
Location:162 → 335

VWA; von Willebrand factor type A domain

cl00057
Location:350 → 507

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_006527091.1 → XP_006527154.1 von Willebrand factor A domain-containing protein 2 isoform X2

Conserved Domains (4) summary

cd00054
Location:483 → 518

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:69 → 99

EGF; EGF-like domain

pfam00092
Location:113 → 286

VWA; von Willebrand factor type A domain

cl00057
Location:301 → 458

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 ...