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VWA3A Gene

protein-coding GIFtS: 40
GCID: GC16P022103

Von Willebrand Factor A Domain Containing 3A

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disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Von Willebrand Factor A Domain Containing 3A¹ ²
Von Willebrand Factor A Domain-Containing Protein 3A²

External Ids:	HGNC: 27088¹	Entrez Gene: 146177²	Ensembl: ENSG00000175267⁷	UniProtKB: A6NCI4³

Export aliases for VWA3A gene to outside databases

Previous GC identifers: GC16P022015 GC16P020349

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for VWA3A Gene:

VWA3A (von Willebrand factor A domain containing 3A) is a protein-coding gene. An important paralog of this gene is VWA3B.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000016.9 NT_187260.1 NC_018927.2

Regulatory elements:

Regulatory transcription factor binding sites in the VWA3A gene promoter:
c-Fos SRY AP-1 Pbx1a POU2F1 POU2F1a FosB c-Jun MRF-2 Evi-1
Other transcription factors

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Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VWA3A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.2 Ensembl cytogenetic band: 16p12.2 HGNC cytogenetic band: 16p12.1

VWA3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA3A gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P022103: view genomic region (about GC identifiers)

Start:	22,103,859 bp from pter	End:	22,168,287 bp from pter
Size:	64,429 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
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About This Section

UniProtKB/Swiss-Prot: VWA3A_HUMAN, A6NCI4 (See protein sequence)

Recommended Name: von Willebrand factor A domain-containing protein 3A precursor

Size: 1184 amino acids; 134020 Da

Secondary accessions: A4QMU8 A6NNC0 Q6UTX4 Q6ZQZ9 Q8IUY6 Q8N9W1

Alternative splicing: 4 isoforms: A6NCI4-1 A6NCI4-2 A6NCI4-3 A6NCI4-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWA3A: NX_A6NCI4

Explore proteomics data for VWA3A at MOPED

Post-translational modifications:

Glycosylation² at Asn709

Modification sites at PhosphoSitePlus

See VWA3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_775886.3

ENSEMBL proteins:

ENSP00000457368 ENSP00000457770 ENSP00000374049 ENSP00000299840 ENSP00000457167

ENSP00000456513 ENSP00000374048

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

1 InterPro protein domain:

IPR002035 VWF_A

Graphical View of Domain Structure for InterPro Entry A6NCI4

ProtoNet protein and cluster: A6NCI4

UniProtKB/Swiss-Prot: VWA3A_HUMAN, A6NCI4

Similarity: Contains 2 VWFA domains

Find genes that share domains with VWA3A About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

VWA3A_HUMAN, A6NCI4: Secreted (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	3
cytosol	2
mitochondrion	2
nucleus	1
plasma membrane	1

About this image

Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

Find genes that share ontologies with VWA3A About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

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Search GeneGlobe Interaction Network for VWA3A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for VWA3A gene (3 alternative transcripts):

NM_173615.4 NM_175059.2 XM_006721021.1

Unigene Cluster for VWA3A:

Von Willebrand factor A domain containing 3A

Hs.10697 [show with all ESTs]

Unigene Representative Sequence: NM_173615

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000562340 ENST00000567131 ENST00000566668 ENST00000568328 ENST00000389398(uc010bxc.2 uc010vbq.2 uc010bxd.3 uc002dkg.4)

ENST00000299840 ENST00000563389 ENST00000563755 ENST00000389397(uc010bxe.1)

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Additional mRNA sequence:

AK093467.1 AK128606.1 AK307544.1 AY360464.1 BC038400.1 BC109294.1 BC109295.1

8 DOTS entries:

DT.407129 DT.99998669 DT.100019005 DT.120658560 DT.120658938 DT.91923781 DT.120658787 DT.91666892

Selected AceView cDNA sequences (see all 32):

BC038400 BF739772 CB241886 BU684516 AX748144 AA398185 AA781930 CB241369

BM998658 BI916787 BX114698 AY360464 AK128606 BE466460 BU683697 AI016658

N47075 AI192034 AK098260 AK093467 BI755006 BG570684 BI035585 CD705779

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for VWA3A About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	^	20	^	21a	·	21b	^	22	^	23	^
SP1:																																							-
SP2:									-																-
SP3:
SP4:					-				-
SP5:					-

ExUns:	24	^	25a	·	25b	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33a	·	33b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for VWA3A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

VWA3A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACTTTAACTG

About this image

VWA3A Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

VWA3A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.10697

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for VWA3A gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Vwa3a^{1 , 5}	von Willebrand factor A domain containing 3A^{1, 5}	79.62(n)¹ 73.35(a)¹		7 (64.90 cM)⁵ 233813¹ NM_177697.3¹ NP_808365.2¹ 120739557⁵
chicken (Gallus gallus)	Aves	VWA3A¹	von Willebrand factor A domain containing 3A	61.34(n) 56.46(a)		416616 XM_414917.4 XP_414917.4
lizard (Anolis carolinensis)	Reptilia	VWA3A⁶	von Willebrand factor A domain containing 3A	51(a)	1 ↔ 1	GL343846.1(113512-145914)
tropical clawed frog (Xenopus tropicalis)	Amphibia	vwa3a¹	von Willebrand factor A domain containing 3A	60.19(n) 53.77(a)		100490749 XM_002931981.2 XP_002932027.2
zebrafish (Danio rerio)	Actinopterygii	LOC100535802¹	von Willebrand factor A domain-containing protein 3A-like	54.61(n) 44.04(a)		100535802 XM_003198187.2 XP_003198235.2

ENSEMBL Gene Tree for VWA3A (if available)
TreeFam Gene Tree for VWA3A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for VWA3A gene

VWA3B²

1 SIMAP similar gene for VWA3A using alignment to 5 protein entries: VWA3A_HUMAN (see all proteins):

VWA3B

Find genes that share paralogs with VWA3A About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184285417^1,2		--	22102308(+)	`GAAGCA/GAAGAA`	1	--	us2k¹		0	--	--	--	--
rs189186110^1,2		--	22102546(+)	`AATGCC/TGTGGT`	1	--	us2k¹		0	--	--	--	--
rs191614714^1,2		--	22102607(+)	`CTATTG/TTGAGC`	1	--	us2k¹		0	--	--	--	--
rs184888143^1,2		--	22102614(+)	`GAGCAC/TGTTGG`	1	--	us2k¹		0	--	--	--	--
rs189609648^1,2		--	22103060(+)	`ATTCTC/TAGAAA`	1	--	us2k¹		0	--	--	--	--
rs181535228^1,2		--	22103124(+)	`TTAGCA/GACTTA`	1	--	us2k¹		0	--	--	--	--
rs186847602^1,2		--	22103131(+)	`CTTACA/GAGTTG`	1	--	us2k¹		0	--	--	--	--
rs80135026^1,2	C,F	--	22103255(+)	`TTAAAA/CAGTCA`	1	--	us2k¹		1		WA	118
rs73533985^1,2	C,F	--	22103307(+)	`TGGGAA/TTGTTT`	1	--	us2k¹		2		WA	120
rs74012197^1,2	C,F	--	22103331(+)	`TCCAGG/ATGATT`	1	--	us2k¹		3		WA CSA	122

HapMap Linkage Disequilibrium report for VWA3A (22103859 - 22168287 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for VWA3A (see all 18): About this table

Variant ID	Type	Subtype	PubMed ID
esv2714075	CNV	Deletion	23290073
esv2714070	CNV	Deletion	23290073
esv2714073	CNV	Deletion	23290073
nsv435668	CNV	Deletion	17901297
dgv48n16	CNV	Insertion	17901297
nsv498860	CNV	Loss	21111241
nsv1764	CNV	Loss	18451855
dgv2647n71	CNV	Loss	21882294
nsv905598	CNV	Gain	21882294
nsv519813	CNV	Gain+Loss	19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

Find genes that share disorders with VWA3A About GenesLikeMe

Genetic Association Database (GAD): VWA3A

Export disorders for VWA3A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for VWA3A gene integrated from 10 sources:
(articles sorted by number of sources associating them with VWA3A)

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (Genome Res. 2006)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (Nature 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S.... Malek J. (Genome Res. 2004)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (Science 2001)
(PubMed id )²

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 146177	HGNC: 27088	AceView: LOC146177	Ensembl:ENSG00000175267	euGenes: HUgn146177
ECgene: VWA3A	H-InvDB: VWA3A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for VWA3A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for VWA3A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for VWA3A gene:
Search GeneIP for patents involving VWA3A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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VWA3A Gene

Von Willebrand Factor A Domain Containing 3A

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VWA3A Gene

Von Willebrand Factor A Domain Containing 3A

Aliasesfor VWA3A gene

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VWA3A Human Recombinant Protein Products:

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Expression for VWA3A gene

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External Searches for VWA3A gene

Genome Databases showing VWA3A gene

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