VWA3B

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]

Description

Von Willebrand factor A domain containing 3B

Tissue specificity

Group enriched (fallopian tube, testis)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

2 (98087116 - 98313299)

Ensembl ID

ENSG00000168658  (ver. 103.38)

Orthologs

Mouse Vwa3b: ENSMUSG00000050122

UniProt

Q502W6

neXtProt

NX_Q502W6

Human splice variants
Mouse splice variants

Protein structure