Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7450

Name

VWF

Synonymous

F8VWF|VWD;von Willebrand factor;VWF;von Willebrand factor

Definition

coagulation factor VIII VWF

Position

12p13.3

Gene Type

protein-coding

Gene Regulation:

ENCODE RegulomeDB
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

ENCODE RegulomeDB   [Top]

Link to UCSC genome

Matched SNP location

dbSNP ID

Regulatory information

chr12:6058040-6233936chr12:6124666-6124666rs216308Single_Nucleotides|eQTL|CDCA3, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|FAIRE|Nhek, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|FAIRE|Hepg2, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|UrotsaUt189, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF
chr12:6058040-6233936chr12:6124666-6124666rs55971098Single_Nucleotides|eQTL|CDCA3, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|FAIRE|Nhek, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|FAIRE|Hepg2, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|UrotsaUt189, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF
chr12:6058040-6233936chr12:6153659-6153659rs216293Single_Nucleotides|eQTL|TPI1, Motifs|PWM|Irf3, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Helas3, Protein_Binding|ChIP-seq|TFAP2A
chr12:6058040-6233936chr12:6193096-6193096rs3819537Single_Nucleotides|eQTL|NOP2, Motifs|PWM|ZID, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Htr8
chr12:6058040-6233936chr12:6193537-6193537rs763580Single_Nucleotides|eQTL|NOP2, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|FAIRE|Astrocy, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Osteobl, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|EP300
chr12:6058040-6233936chr12:6215634-6215634rs7306706Single_Nucleotides|eQTL|USP5, Motifs|PWM|POU1F1, Motifs|PWM|IRF, Motifs|PWM|ISGF-3, Chromatin_Structure|DNase-seq|Monocd14

Transcription Factors   [Top]

Regulation From TransFac database

PSGL1(m.s.) + VWD(h) <==> PSGL1(m.s.):VWD(h) (binding)
CD11B(m.s.) + VWD(h) <==> CD11B(m.s.):VWD(h) (binding)
VWD(h) + alphaL-integrin(m.s.):beta2-integrin(m.s.) <==> VWD(h):alphaL-integrin(m.s.):beta2-integrin(m.s.) (binding)
beta2-integrin(m.s.):CD11C(m.s.) + VWD(h) <==> beta2-integrin(m.s.):CD11C(m.s.):VWD(h) (binding)
VWF(h) --> VWD(h) (expression).
GP1b(h) + VWD(h) <==> GP1b(h):VWD(h) (binding)
VWF(h) --> VWD(h) (expression).

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

857N-linked (GlcNAc...).Swiss-Prot 53.0
1147N-linked (GlcNAc...); atypical.Swiss-Prot 53.0
1231N-linked (GlcNAc...).Swiss-Prot 53.0
1248O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1255O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1256O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1263O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1468O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1477O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1486O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1487O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1515N-linked (GlcNAc...).Swiss-Prot 53.0
1574N-linked (GlcNAc...).Swiss-Prot 53.0
1679O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
2223N-linked (GlcNAc...).Swiss-Prot 53.0
2290N-linked (GlcNAc...).Swiss-Prot 53.0
2298O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
2357N-linked (GlcNAc...).Swiss-Prot 53.0
2400N-linked (GlcNAc...).Swiss-Prot 53.0
2546N-linked (GlcNAc...).Swiss-Prot 53.0
2585N-linked (GlcNAc...).Swiss-Prot 53.0
2790N-linked (GlcNAc...).Swiss-Prot 53.0
1263O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1486O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1248O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1255O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1256O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1468O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1477O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1487O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1679O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2298O-linked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
857N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1147N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1231N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1515N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
1574N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2223N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2290N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2357N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2400N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2546N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2585N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0
2790N-liked1:Titani K., Kumar S., Takio K., Ericsson LH., Wade RD., Ashida K., Walsh KA., Chopek MW., Sadler JE. and Fujikawa K. (1986) Biochemistry, 25, 3171-3184. Medline: 86269895;2:Samor B., Michalski JC., Mazurier C., Goudemand M., Waard PD., Vliegenthart JOGlycBase6.0

Methylation Profile   [Top]

There is no record for VWF


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