Gene Gene information from NCBI Gene database.
Entrez ID 90113
Gene name Von Willebrand factor A domain containing 5B2
Gene symbol VWA5B2
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q27.1
miRNA miRNA information provided by mirtarbase database.
74
miRTarBase ID miRNA Experiments Reference
MIRT1488334 hsa-miR-3150b-3p CLIP-seq
MIRT1488335 hsa-miR-342-5p CLIP-seq
MIRT1488336 hsa-miR-3689a-3p CLIP-seq
MIRT1488337 hsa-miR-3689c CLIP-seq
MIRT1488338 hsa-miR-4419a CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N398
Protein name von Willebrand factor A domain-containing protein 5B2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13757 VIT_2 2 79 Vault protein inter-alpha-trypsin domain Domain
PF13768 VWA_3 353 501 von Willebrand factor type A domain Domain
Sequence
MPGLYCPSSWTPLPLTDSWVRACANGPCLSVRARLTYRNPQPQPVDGVFVYPLAEAEVVS
GFEAEAAGRRVSFQLQSRR
RSQAACCRALGPGLGTPTPRRCAQGHLVLDLAQARSTLVLP
TGIIAAAGTMTVTLHSSRELPSRPDGVLHVALPTVLTPLAPPGPPGPPRPPGLCDDSPTS
CFGVGSLQEEGLAWEELAAPRDVFSGPARCPAPYTFSFEMLVTGPCLLAGLESPSHALRA
DAPPHASSAATICVTLAEGHHCDRALEILLHPSEPHQPHLMLEGGSLSSAEYEARVRARR
DFQRLQRRDSDGDRQVWFLQRRFHKDILLNPVLALSFCPDLSSKPGHLGTATRELLFLLD
SSSVAHKDAIVLAVKSLPPQTLINLAVFGTLVQPLFPESRPCSDDAVQLICESIETLQVP
SGPPDVLAALDWAVGQPQHRAYPRQLFLLTAASPMAATTHRTLELMRWHRGTARCFSFGL
GPTCHQLLQGLSALSRGQAYF
LRPGQRLQPMLVQALRKALEPALSDISVDWFVPDTVEAL
LTPREIPALYPGDQLLGYCSLFRVDGFRSRPPGGQEPGWQSSGGSVFPSPEEAPSAASPG
TEPTGTSEPLGTGTVSAELSSPWAARDSEQSTDALTDPVTDPGPNPSDTAIWRRIFQSSY
IREQYVLTHCSASPEPGPGSTGSSESPGSQGPGSPEGSAPLEPPSQQGCRSLAWGEPAGS
RSCPLPAPTPAPFKVGALSTEVLGRQHRAALAGRSLSSPPGRANQVPGRPRKPSLGAILD
GPSPEPGQQLGQGLDDSGNLLSPAPMDWDMLMEPPFLFTAVPPSGELAPPAVPPQAPRCH
VVIRGLCGEQPMCWEVGVGLETLWGPGDGSQPPSPPVREAAWDQALHRLTAASVVRDNEQ
LALRGGAETTADRGHARRCWLRALQTSKVSSAPSCFTCPVAVDATTREVLPGALQVCSSE
PAEPPGTPPASHSHLDAAPLPTVVYSKGLQRGSPAGAWDSDQNGNSKRALGDPATPTEGP
RRPPPRPPCRLSMGRRHKLCSPDPGQANNSEGSDHDYLPLVRLQEAPGSFRLDAPFCAAV
RISQERLCRASPFAVHRASLSPTSASLPWALLGPGVGQGDSATASCSPSPSSGSEGPGQV
DSGRGSDTEASEGAEGLGGTDLRGRTWATAVALAWLEHRCAAAFDEWELTAAKADCWLRA
QHLPDGLDLAALKAAARGLFLLLRHWDQNLQLHLLCYSPANV
Sequence length 1242
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations