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- Table of Contents
Facts about Spectrin beta chain, non-erythrocytic 2.
Human | |
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Gene Name: | SPTBN2 |
Uniprot: | O15020 |
Entrez: | 6712 |
Belongs to: |
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spectrin family |
beta-III Spectrin; glutamate transporter EAAT4-associated protein 41; GTRAP41; KIAA0302; SCA5; SCAR14; Spectrin beta 3; spectrin beta chain, brain 2; Spectrin beta III; spectrin, beta, non-erythrocytic 2; Spectrin, non-erythroid beta chain 2; spinocerebellar ataxia 5; SPTBN2
Mass (kDA):
271.325 kDA
Human | |
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Location: | 11q13.2 |
Sequence: | 11; NC_000011.10 (66682496..66729361, complement) |
Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
PMID: 9826670 by Stankewich M.C., et al. A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles.
PMID: 23236289 by Lise S., et al. Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development.