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FLASH GENE

Symbol

SPTBN4

contributors: mct - updated : 18-04-2015

HGNC name	spectrin, beta, non-erythrocytic 4
HGNC id	14896

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IDMAN Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
Location	19q13.2      Physical location : 40.973.125 - 41.082.364
Synonym name	quivering, mouse, homolog of
	beta-IV spectrin
Synonym symbol(s)	SPTBN3, KIAA1642, QV, SPNB4

DNA

TYPE	functioning gene
STRUCTURE	109.24 kb     36 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020971 36 splicing 8705 NP_066022 288.9 2564 predominant spectrin at axon initial segments (AIS) 2007 17197442 variant sigma1 only betaIV spectrin with an actin-binding domain a master-stabilizing factor of axon initial segments (AIS) and nodes of Ranvier (NR) membranes NM_025213 10 splicing 2419 NP_079489 77 678 - 2007 17197442 variant sigma6 containing a distinct 5' and 3' UTR and lacking an in-frame portion of the 5' and 3' coding region compared to variant sigma1 N-terminal-truncated isoform, Sigma6, which is expressed at much higher levels than the full-length isoform Sigma1 plays a specific role in clustering voltage-gated sodium channels, whereas it is dispensable for membrane stabilization at axon initial segments and nodes of Ranvier

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 Endocrine adrenal gland       highly   pancreas       highly Mus musculus Nervous brain       moderately   nerve spinal nerve     predominantly Homo sapiens Visual eye       moderately

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Mus musculus Nervous neuron Homo sapiens

cell lineage
cell lines
fluid/secretion	moderately in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal actin-binding domain,
	two CH (calponin-homology) domains
	17 spectrin repeats
	a PH (pleckstrin homology) domain
	C-terminal domain crucial for KCNQ2 aggregation and excitability at nodes of Ranvier , containing a conserved motif harboring high homology to the autoregulatory domain of CAMK2A, a site necessary for CAMK2A intramolecular interaction

HOMOLOGY

interspecies	homolog to rattus Spnb4 (94.9 pc)
	homolog to murine Spnb4 (95.8 pc)

Homologene

FAMILY	spectrin family
	beta subfamily

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus,nucleoplasm,nuclear bodies,PML
text	PML body
	nuclear matrix
	cytoskeletal anchoring at plasma membrane

basic FUNCTION	being a structural constituent of cytoskeleton
	involved in the barbed-end actin filament capping
	regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier
	broader role for SPTB4 in regulation of cell membrane excitability in the pancreatic islet
	role of SPTBN4 in the expression, targeting, and regulation of critical membrane and signaling proteins in islets

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	vesicle-mediated transport

PATHWAY

metabolism

signaling

a component

essential component of the membrane skeleton

INTERACTION

DNA

RNA

small molecule

protein	binding to actin
	binding to ankyrin
	is recruited to axon initial segments and nodes of Ranvier by ANK3
	directly associates with ankyrin-B and CAMK2A
	directly associates with and targets CAMK2A in pancreatic islets
	SPTBN4–targeted CAMK2A directly phosphorylates the inwardly-rectifying potassium channel, KCNJ11
	SPTBN4/CAMK2D interaction in pancreatic islets via a C-terminal domain in SPTBN4
	is required for CAMK2D, ANK2, KCNJ11, and ABCC8 expression in beta cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IDMAN

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   DNA methylation-associated silencing in Alzheimer disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS