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FLASH GENE

Symbol

SPTBN2

contributors: mct/npt - updated : 21-05-2019

HGNC name	spectrin, beta, non-erythrocytic 2
HGNC id	11276

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA5 spinocerebellar ataxia 5 SCAR14 spinocerebellar ataxia, autosomal recessive 14
Location	11q13.2      Physical location : 66.452.720 - 66.488.870
Synonym name	beta 3 spectrin
	spectrin beta G chain
	glutamate transporter EAAT4-associated protein 41
	spinocerebellar ataxia 5 protein
Synonym symbol(s)	SPTBG, KIAA0302, SPCP, GTRAP41

DNA

TYPE	functioning gene
STRUCTURE	36.15 kb     37 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_006946 37 - 7884 NP_008877 - 2390 - Davis (2009)

EXPRESSION

Type

widely

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 Digestive liver       highly Endocrine pancreas       highly Nervous brain hindbrain cerebellum   highly Homo sapiens Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one PH domain
	two calponin homology domain
	a central repeat region consisting of 17 spectrin repeats (pMID: 24603075)
	ankyrin-binding domain

HOMOLOGY

interspecies

homolog to murine Spnb3

Homologene

FAMILY

spectrin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	playing a role in neuronal membrane cytoskeleton
	tetrameric actin-cross-linking proteins that form an elastic network, termed the membrane skeleton, on the cytoplasmic surface of cellular membranes (Davis 2009)
	critical role for SPTBN2 in Purkinje cell morphological development
	regulates the structural integrity and the secretory protein transport of the Golgi complex
	is required for normal neuronal morphology and cell survival
	critical role for SPTBN2 in maintaining ANK1 throughout the Purkinje cell dendritic tree
	is critical for integrating membrane and cytoskeletal domains in excitable and nonexcitable cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

stabilizing the glutamate transpirter EAAT4 at the surface of the plasma membrane, and EAAT4 interactor (Perkins 2010)

cell & other

REGULATION

Other

SPTBN2 and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis

ASSOCIATED DISORDERS

corresponding disease(s)

SCA5 , SCAR14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   decreased in atrial samples of patients with atrial fibrillation compared with tissue from patients in sinus rhythm

Susceptibility

to Attention-deficit/hyperactivity disorder (ADHD)

Variant & Polymorphism other	DNA methylation of one CpG site in SPTBN2 is associated with attention deficits in children

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS