≡

Spectrin Beta, Non Erythrocytic 2 (SPTbN2)

[Edit]

SCA5; Spinocerebellar Ataxia 5; Beta-III spectrin

Spectrin Beta, Non Erythrocytic 2 (SPTbN2)
CCC F949
HGNC 11276
MGI 1313261
PubMed 23236289
RGD 3751
UniProt O15020
Wiki SPTBN2
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements.Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Beta, Non Erythrocytic 2 (SPTbN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Beta, Non Erythrocytic 2 (SPTbN2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Beta, Non Erythrocytic 2 (SPTbN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Beta, Non Erythrocytic 2 (SPTbN2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Beta, Non Erythrocytic 2 (SPTbN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Beta, Non Erythrocytic 2 (SPTbN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Beta, Non Erythrocytic 2 (SPTbN2) ELISA Kit Customized Service Offer
  1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  3. "A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles."Proc. Natl. Acad. Sci. U.S.A. 95:14158-14163(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  5. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  6. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  7. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development." PLoS Genet. 8:E1003074-E1003074(2012) [PubMed] [Europe PMC] [Abstract]
  10. "Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations."Eur. J. Hum. Genet. 22:286-288(2014) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Solution structure of pleckstrin homology domain of human beta III spectrin."Submitted (NOV-2004) to the PDB data bank
  13. "Solution structure of the second CH domain of human spectrin beta chain, brain 2."Submitted (AUG-2005) to the PDB data bank
  14. "Spectrin mutations cause spinocerebellar ataxia type 5."Nat. Genet. 38:184-190(2006) [PubMed] [Europe PMC] [Abstract]
  15. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  16. "Case of infantile onset spinocerebellar ataxia type 5."J. Child Neurol. 28:1292-1295(2013) [PubMed] [Europe PMC] [Abstract]