SPTAN1

SPTAN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2FOT, 3F31, 3FB2
Identifiers
Aliases	SPTAN1, EIEE5, NEAS, SPTA2, spectrin alpha, non-erythrocytic 1, DEE5
External IDs	OMIM: 182810; MGI: 98386; HomoloGene: 2353; GeneCards: SPTAN1; OMA:SPTAN1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	128,633,662 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	29,921,463 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; right frontal lobe; ; Brodmann area 9; ; Amygdala; ; right uterine tube; ; nucleus accumbens; ; prefrontal cortex; ; Brodmann area 10; ; cingulate gyrus; ; tibial nerve;
	Top expressed in
	facial motor nucleus; ; epithelium of lens; ; dentate gyrus of hippocampal formation granule cell; ; ciliary body; ; Rostral migratory stream; ; cerebellar cortex; ; iris; ; anterior horn of spinal cord; ; barrel cortex; ; external carotid artery;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; metal ion binding; calmodulin binding; structural constituent of cytoskeleton; protein binding; actin binding; cadherin binding;
Cellular component	cytoplasm; extracellular vesicle; cytosol; spectrin; membrane; intracellular membrane-bounded organelle; microtubule cytoskeleton; cell cortex; extracellular exosome; cytoskeleton; extracellular region; specific granule lumen; tertiary granule lumen;
Biological process	MAPK cascade; axon guidance; endoplasmic reticulum to Golgi vesicle-mediated transport; actin filament capping; cytoskeleton organization; neutrophil degranulation; regulation of molecular function;
	Sources:Amigo / QuickGO
Orthologs
	6709
	20740
	ENSG00000197694
	ENSMUSG00000057738
	Q13813
	P16546
NM_001130438; NM_001195532; NM_003127; NM_001363759; NM_001363765;
	NM_001375310; NM_001375311; NM_001375312; NM_001375313; NM_001375314; NM_001375318
	NM_001076554; NM_001177667; NM_001177668; NM_001309460; NM_001369325
NP_001123910; NP_001182461; NP_003118; NP_001350688; NP_001350694;
	NP_001362239; NP_001362240; NP_001362241; NP_001362242; NP_001362243; NP_001362247
	NP_001171138; NP_001171139; NP_001296389; NP_001356254
	Wikidata
View/Edit Human	View/Edit Mouse

Alpha II-spectrin, also known as Spectrin alpha chain, brain is a protein that in humans is encoded by the SPTAN1 gene. Alpha II-spectrin is expressed in a variety of tissues, and is highly expressed in cardiac muscle at Z-disc structures, costameres and at the sarcolemma membrane. Mutations in alpha II-spectrin have been associated with early infantile epileptic encephalopathy-5, and alpha II-spectrin may be a valuable biomarker for Guillain–Barré syndrome and infantile congenital heart disease.