ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

VWF

Full Name:

von Willebrand factor

Alias:

F8VWF|VWD

Organism:

Homo sapiens (Human)

Chromosome:

12

Genetic Location:

12p13.3

Physical Location:

5928300-6104096 on NC_000012.10, complement

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

VWF

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D12S99

5434815

Region:		3434815-7434815
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_000552.3	NP_000543.2	NC_000012.10 range: 5928300..6104096, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0033093	Weibel-Palade body	Cellular Component	IDA (3082891\|3087627)
GO:0031091	platelet alpha granule	Cellular Component	NAS (9759493)
GO:0005886	plasma membrane	Cellular Component	EXP (1939645)
GO:0005783	endoplasmic reticulum	Cellular Component	IDA (6754744)
GO:0005578	proteinaceous extracellular matrix	Cellular Component	IEA
GO:0005576	extracellular region	Cellular Component	NAS (14718574)
GO:0005576	extracellular region	Cellular Component	IDA (10887119)
GO:0005576	extracellular region	Cellular Component	EXP (1939645\|3872140)
GO:0002020	protease binding	Molecular Function	IPI (12775718)
GO:0042803	protein homodimerization activity	Molecular Function	IDA (10887119)
GO:0047485	protein N-terminus binding	Molecular Function	IPI (7721887)
GO:0019865	immunoglobulin binding	Molecular Function	IDA (3121636)
GO:0051087	chaperone binding	Molecular Function	IDA (10887119)
GO:0005178	integrin binding	Molecular Function	IPI (9079671)
GO:0005518	collagen binding	Molecular Function	IDA (2056120)
GO:0001948	glycoprotein binding	Molecular Function	IDA (16409464)
GO:0031589	cell-substrate adhesion	Biological Process	IDA (9079671)
GO:0030168	platelet activation	Biological Process	NAS (12871509)
GO:0030168	platelet activation	Biological Process	IDA (8565074)
GO:0009611	response to wounding	Biological Process	TAS (15029268)
GO:0051260	protein homooligomerization	Biological Process	IDA (8874190)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000110799

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: