VWA3B - von Willebrand factor A domain containing 3B Gene

Also Known as SCAR22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 200403

About VWA3B

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,087,167-98,330,616 (from NCBI)

This gene has 21 transcripts (splice variants), 152 orthologues, 11 paralogues and is associated with 1 phenotype. Restricted expression toward testis (RPKM 15.5).

Summary

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]

VWA3B Products (2)

mRNA Protein Name
NM_001345864.2 NP_001332793.1 von Willebrand factor A domain-containing protein 3B isoform 2
NM_144992.5 NP_659429.4 von Willebrand factor A domain-containing protein 3B isoform 1

VWA3B Protein Structure

VWA_3

VWA_3: von Willebrand factor type A domain (142 - 245)

VWA_3

VWA_3: von Willebrand factor type A domain (509 - 658)

DUF4537

DUF4537: Domain of unknown function (DUF4537) (1037 - 1163)

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  • 1294 a.a.
Protein Preferred Names Protein Names

von Willebrand factor A domain-containing protein 3B

  • VWA domain-containing protein 3B

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 22

  • SCAR22

  • Autosomal Recessive Spinocerebellar Ataxia 22

  • Spinocerebellar Ataxia, Autosomal Recessive, 22

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 22
Progressive Myoclonus Epilepsy 6

  • Progressive Myoclonic Epilepsy Type 6

  • Epm6

  • Gosr2-Related Progressive Myoclonus Ataxia

  • North Sea Progressive Myoclonus Epilepsy

  • Pme Type 6

  • Progressive Myoclonus Epilepsy Type 6

  • Epilepsy, Progressive Myoclonic, 6
Pylorospasm
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15727 VWA3B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus VWA3B VGNC VGNC:66990
Rattus norvegicus VWA3B RGD RGD:1562560
Canis familiaris VWA3B VGNC VGNC:48321
Macaca mulatta VWA3B VGNC VGNC:79706
Mus musculus VWA3B MGD MGI:1918103
Bos taurus VWA3B VGNC VGNC:50129
Others VWA3B NCBI