VWA3B - von Willebrand factor A domain containing 3B Gene

Homo sapiens

Also known as SCAR22

Gene ID: 200403 | Gene type: protein coding

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

DUF4537

0
200
400
600
800
1000
1200
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15727	VWA3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.