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FLASH GENE

Symbol

SPTBN1

contributors: mct - updated : 18-08-2012

HGNC name	spectrin, beta, non-erythrocytic 1
HGNC id	11275

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p16.2      Physical location : 54.683.453 - 54.898.582
Synonym name	fodrin beta chain
	embryonic liver fodrin
Synonym symbol(s)	ELF, SPTB2, beta2SP

DNA

TYPE	functioning gene
STRUCTURE	215.13 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specific expression Year Pubmed NM_003128 36 splicing 10238 274.6 2364 - Hu NM_178313 31 splicing 9091 247 2155 - Chen (unpublished)

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart       highly Digestive mouth tongue     highly Endocrine pancreas       highly Homo sapiens   thyroid       highly Hearing/Equilibrium ear       highly Nervous brain       moderately Respiratory lung       highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal actin-binding domain
	12 copies of a 106 residue repeat motif
	a C terminal region of association with SPTAN1
	two calponin-homology (CH) domains
	a PH domain
	a synapsin I-binding domain
	17 homologous repeating units (each about 106 amino acids in length)

mono polymer

tetramer

HOMOLOGY

interspecies	ortholog to murine Spnb2
	homolog to C.elegans unc-70
	homolog to drosophila &bgr;-Spec

Homologene

FAMILY

superfamily of F-actin cross linking proteins

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus

basic FUNCTION	crosslinking actin proteins of the membrane-associated cytoskeleton
	candidate for the calcium-dependent movement of the cytoskeleton at the membrane
	is involved in the regulation of exocytosis, in particular, the regulation of neurotransmitter release, in which its interaction with small synaptic vesicles via synapsin I plays a crucial role
	scaffolding protein, functions as a potent TGFbeta signaling member adaptor in tumor suppression and development
	having a tumor suppressor function, as has already been shown for other malignancies of the gastrointestinal tract
	participate in the transport of clear and dense-core vesicles along the axon and in their clustering at the plasma membrane site where exocytosis occurs

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	constituent of intermediate filament associated protein (IFAP, type III)
	alpha- and beta-spectrin subunits form antiparallel dimers that self associate to give the spectrin tetramer

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein	binding to actin, calmodulin in a calcium-dependent manner, SPTAN1
	PJA1 and PJA2 interacting with SPTBN1 in a TGF-beta-dependent manner, with a fivefold increase of PJA1 and PJA2 expression and a subsequent decrease in SPTBN1 and SMAD4 expression, in gastrointestinal cancer cell lines
	direct binding of SPTBN1 to ANK2 is required for the normal targeting of SPTBN1 in neonatal cardiomyocytes, but ANK2 localization and function are independent of SPTBN1
	SNCA likely modulates neurite outgrowth by interacting with cytoskeletal proteins such as SPTBN1
	is also known to interact with actin, and rapid actin remodeling is required for cell adhesion and neurite outgrowth

cell & other

intermediate filament associated (IFAP,type III)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in pancreatic cancer tissues, and reduced SPTBN1 expression correlated with shorter survival of pancreatic cancer patients constitutional         epigenetic silencing is a new potential causal factor in human BWS patients tumoral fusion       to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

beta2SP(+/-) mice are born with many phenotypic characteristics observed in BWS patients, suggesting that beta2SP mutant mice phenocopy BWS, and beta2SP loss could be one of the mechanisms associated with BWS (Beckwith-Wiedemann syndrome)