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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

VWA3A Gene

protein-coding GIFtS: 39
GCID: GC16P022103

von Willebrand factor A domain containing 3A

Search for VWA3A
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Von Willebrand Factor A Domain Containing 3A¹ ²
FLJ40941¹
FLJ46765¹
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences 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

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for VWA3A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Subcellular location: Secreted (Potential)

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A6NCI4

VWA3A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_775886.3

ENSEMBL proteins:

ENSP00000457368 ENSP00000457770 ENSP00000374049 ENSP00000299840 ENSP00000457167

ENSP00000456513 ENSP00000374048

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

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

VWA3A for ontologies About GeneDecksing

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

VWA3A for domains About GeneDecksing

1 InterPro domain/family:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for VWA3A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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 (2 alternative transcripts):

NM_175059.2 NM_173615.3

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 cDNA 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

24/32 AceView cDNA sequences (see all 32):

BU684516 BC038400 CB241886 BF739772 AA781930 BI755006 AK098260 AK128606

N47075 BU683697 AI016658 CB241369 BX114698 BM998658 AI192034 AY360464

AX748144 AK093467 BI916787 BE466460 AA398185 BI035585 CD705779 BG570684

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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, 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
CGAP TAG: ACTTTAACTG

About this image

VWA3A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See VWA3A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for VWA3A

SOURCE GeneReport for Unigene cluster: Hs.10697

SABiosciences Custom PCR Arrays for VWA3A

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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 4/14 species (see all 14) 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	60.76(n) 55.86(a)		416616 XM_414917.3 XP_414917.3
lizard (Anolis carolinensis)	Reptilia	VWA3A⁶	--	53(a)	1 ↔ 1	GL343846.1(114215-145614)
zebrafish (Danio rerio)	Actinopterygii	LOC100535802¹	von Willebrand factor A domain-containing protein 3A-like	49.61(n) 40.23(a)		100535802 XM_003198187.1 XP_003198235.1

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)
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

VWA3A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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	F,	--	22103255(+)	`TTAAAA/CAGTCA`	1	--	us2k¹		1		WA	118
rs73533985^1,2	C,	--	22103307(+)	`TGGGAA/TTGTTT`	1	--	us2k¹		2		WA	120
rs74012197^1,2	C,	--	22103331(+)	`TCCAGG/ATGATT`	1	--	us2k¹		3		WA CSA	122

HapMap Linkage Disequilibrium report for VWA3A (22103859 - 22168287 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for VWA3A
3 CNVs: 49676 23249 34613
5 Inversions: 37178 0481 29493 29492 0482

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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.)
About This Section

(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 9 sources:
(articles sorted by number of sources associating them with VWA3A)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (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. (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. (2006)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (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. (2004)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (2001)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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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

Summariesfor VWA3A gene

Genomic Viewsfor VWA3A gene

Proteinsfor VWA3A gene

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Specialized Databases showing VWA3A gene

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for VWA3A gene

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