SPTBN2

Last updated
SPTBN2
Protein SPTBN2 PDB 1wjm.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SPTBN2 , GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
External IDs OMIM: 604985 MGI: 1313261 HomoloGene: 48482 GeneCards: SPTBN2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006946

NM_021287

RefSeq (protein)

NP_008877

NP_067262

Location (UCSC) Chr 11: 66.68 – 66.74 Mb Chr 19: 4.76 – 4.8 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene. [5] [6] [7]

Contents

Clinical significance

Mutations in this gene is associated with Spinocerebellar ataxia type 5.

Interactions

SPTBN2 has been shown to interact with:

Related Research Articles

<span class="mw-page-title-main">Spectrin</span>

Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane in eukaryotic cells. Spectrin forms pentagonal or hexagonal arrangements, forming a scaffold and playing an important role in maintenance of plasma membrane integrity and cytoskeletal structure. The hexagonal arrangements are formed by tetramers of spectrin subunits associating with short actin filaments at either end of the tetramer. These short actin filaments act as junctional complexes allowing the formation of the hexagonal mesh. The protein is named spectrin since it was first isolated as a major protein component of human red blood cells which had been treated with mild detergents; the detergents lysed the cells and the hemoglobin and other cytoplasmic components were washed out. In the light microscope the basic shape of the red blood cell could still be seen as the spectrin-containing submembranous cytoskeleton preserved the shape of the cell in outline. This became known as a red blood cell "ghost" (spectre), and so the major protein of the ghost was named spectrin.

<span class="mw-page-title-main">Beta-actin</span> Protein-coding gene in the species Homo sapiens

Beta-actin is one of six different actin isoforms which have been identified in humans. This is one of the two nonmuscle cytoskeletal actins. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus.

<span class="mw-page-title-main">DCTN1</span> Protein-coding gene in the species Homo sapiens

Dynactin subunit 1 is a protein that in humans is encoded by the DCTN1 gene.

<span class="mw-page-title-main">TUBB2A</span> Protein-coding gene in the species Homo sapiens

Tubulin beta-2A chain is a protein that in humans is encoded by the TUBB2A gene.

Ca<sub>v</sub>2.1 Protein-coding gene in the species Homo sapiens

Cav2.1, also called the P/Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum. Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it. Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the CACNA1A gene. Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.

<span class="mw-page-title-main">Dynactin</span>

Dynactin is a 23 subunit protein complex that acts as a co-factor for the microtubule motor cytoplasmic dynein-1. It is built around a short filament of actin related protein-1 (Arp1).

<span class="mw-page-title-main">TUBA4A</span> Protein-coding gene in the species Homo sapiens

Tubulin alpha-4A chain is a protein that in humans is encoded by the TUBA4A gene.

<span class="mw-page-title-main">SPTAN1</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">APBA1</span> Protein-coding gene in the species Homo sapiens

Amyloid beta A4 precursor protein-binding family A member 1 is a protein that in humans is encoded by the APBA1 gene.

<span class="mw-page-title-main">SPTBN1</span> Protein-coding gene in the species Homo sapiens

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.

<span class="mw-page-title-main">DCTN2</span> Gene of the species Homo sapiens

Dynactin subunit 2 is a protein that in humans is encoded by the DCTN2 gene

<span class="mw-page-title-main">ADD2</span> Protein-coding gene in the species Homo sapiens

Beta-adducin is a protein that in humans is encoded by the ADD2 gene.

<span class="mw-page-title-main">ACTR1A</span> Protein-coding gene in the species Homo sapiens

Alpha-centractin (yeast) or ARP1 is a protein that in humans is encoded by the ACTR1A gene.

<span class="mw-page-title-main">UNC13B</span> Protein-coding gene in the species Homo sapiens

Protein unc-13 homolog B is a protein that in humans is encoded by the UNC13B gene.

<span class="mw-page-title-main">PTPRN2</span> Protein-coding gene in the species Homo sapiens

Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) also known as islet cell autoantigen-related protein (ICAAR) and phogrin is an enzyme that in humans is encoded by the PTPRN2 gene. PTPRN and PTPRN2 are both found to be major autoantigens associated with insulin-dependent diabetes mellitus.

<span class="mw-page-title-main">RICS (gene)</span> Protein-coding gene in the species Homo sapiens

Rho GTPase-activating protein 32 is a protein that in humans is encoded by the RICS gene. RICS has two known isoforms, RICS that are expressed primarily at neurite growth cones, and at the post synaptic membranes, and PX-RICS which is more widely expressed in the endoplasmic reticulum, Golgi apparatus and endosomes. The only known domain of the RICS is the RhoGAP domain, whilst PX-RICS has an additional Phox homology and SH3 domain.

<span class="mw-page-title-main">SPTBN4</span> Protein-coding gene in the species Homo sapiens

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.

<span class="mw-page-title-main">DOC2A</span> Protein-coding gene in the species Homo sapiens

Double C2-like domain-containing protein alpha is a protein that in humans is encoded by the DOC2A gene.

<span class="mw-page-title-main">DOC2B</span> Protein-coding gene in the species Homo sapiens

Double C2-like domain-containing protein beta is a protein that in humans is encoded by the DOC2B gene.

<span class="mw-page-title-main">SPTBN5</span> Protein-coding gene in the species Homo sapiens

Spectrin, beta, non-erythrocytic 5 also known as SPTBN5 is a protein that in humans is encoded by the SPTBN5 gene. SPTBN5 belongs to the spectrin family of cytoskeletal proteins.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000173898 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000067889 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR, Devarajan P, Morrow JS, Lux SE (Dec 1998). "A widely expressed βIII spectrin associated with Golgi and cytoplasmic vesicles". Proc Natl Acad Sci U S A. 95 (24): 14158–63. Bibcode:1998PNAS...9514158S. doi: 10.1073/pnas.95.24.14158 . PMC   24343 . PMID   9826670.
  6. Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP (January 2006). "Spectrin mutations cause spinocerebellar ataxia type 5". Nat Genet. 38 (2): 184–90. doi:10.1038/ng1728. PMID   16429157. S2CID   35280646.
  7. "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2".
  8. 1 2 Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C (May 2001). "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins". Nature. 411 (6835): 321–5. Bibcode:2001Natur.411..321M. doi:10.1038/35077108. PMID   11357136. S2CID   4323027.
  9. 1 2 Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (September 2001). "beta III spectrin binds to the Arp1 subunit of dynactin". J. Biol. Chem. 276 (39): 36598–605. doi: 10.1074/jbc.M104838200 . PMID   11461920.
  10. Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (July 1998). "A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13". Biochem. Biophys. Res. Commun. 248 (3): 846–51. doi:10.1006/bbrc.1998.9067. PMID   9704016.

Further reading