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

Gene ID: 340706, updated on 13-Mar-2020

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
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

Genomic context

See VWA2 in Genome Data Viewer
Location:
10q25.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (114239254..114294500)
105 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 microRNA 2110 Neighboring gene tudor domain containing 1 Neighboring gene aurora kinase A pseudogene 2 Neighboring gene actin filament associated protein 1 like 2 Neighboring gene uncharacterized LOC105378494 Neighboring gene RNA, 7SL, cytoplasmic 384, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC157755

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium-independent cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth plate cartilage chondrocyte morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001272046.2NP_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
    Q5GFL6
    Related
    ENSP00000376708.3, ENST00000392982.8
    Conserved Domains (5) summary
    cd00054
    Location:713748
    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:50205
    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:299329
    EGF; EGF-like domain
    pfam00092
    Location:343516
    VWA; von Willebrand factor type A domain
    cl00057
    Location:531661
    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_001320804.1NP_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
    Q5GFL6
    Conserved Domains (5) summary
    cd00054
    Location:713748
    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:50205
    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:299329
    EGF; EGF-like domain
    pfam00092
    Location:343516
    VWA; von Willebrand factor type A domain
    cl00057
    Location:531661
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539754.2XP_011538056.1  von Willebrand factor A domain-containing protein 2 isoform X4

    Conserved Domains (4) summary
    cd00054
    Location:716751
    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:302332
    EGF; EGF-like domain
    pfam00092
    Location:346519
    VWA; von Willebrand factor type A domain
    cl00057
    Location:534664
    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. XM_017016179.2XP_016871668.1  von Willebrand factor A domain-containing protein 2 isoform X3

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

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

  5. XM_017016181.1XP_016871670.1  von Willebrand factor A domain-containing protein 2 isoform X6

  6. XM_017016180.1XP_016871669.1  von Willebrand factor A domain-containing protein 2 isoform X5

    Conserved Domains (3) summary
    cd00054
    Location:409444
    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 ...
    pfam00092
    Location:39212
    VWA; von Willebrand factor type A domain
    cl00057
    Location:227357
    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 ...

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.
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