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FLASH GENE

Symbol

VWA3B

contributors: mct - updated : 18-10-2016

HGNC name	von Willebrand factor A domain containing 3B
HGNC id	28385

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCAR22 spinocerebellar ataxia, autosomal recessive 22
Location	2q11.2      Physical location : 98.703.594 - 98.929.408
Synonym symbol(s)	SCAR22

DNA

TYPE	functioning gene
STRUCTURE	243.54 kb     28 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_144992 28 - 4765 NP_659429 - 1294 - 2016 26157035 NM_001345864 - - 3657 NP_001332793 - 951 - 2016 26157035

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

basic FUNCTION

critical role for VWA3B in the apoptosis pathway in neuronal tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR22

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS