ID:SPTN2_HUMAN DESCRIPTION: RecName: Full=Spectrin beta chain, non-erythrocytic 2; AltName: Full=Beta-III spectrin; AltName: Full=Spinocerebellar ataxia 5 protein; FUNCTION: Probably plays an important role in neuronal membrane skeleton. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. TISSUE SPECIFICITY: Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta. DISEASE: Defects in SPTBN2 are the cause of spinocerebellar ataxia type 5 (SCA5) [MIM:600224]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. SIMILARITY: Belongs to the spectrin family. SIMILARITY: Contains 2 CH (calponin-homology) domains. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 17 spectrin repeats. SEQUENCE CAUTION: Sequence=BAA32700.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPTBN2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O15020
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AF026487 - Homo sapiens beta III spectrin (SPTBN2) mRNA, partial cds. AF026488 - Homo sapiens beta III spectrin (SPTBN2) mRNA, partial cds. AB008567 - Homo sapiens KIAA0302 mRNA for beta-spectrin III. BC139788 - Homo sapiens spectrin, beta, non-erythrocytic 2, mRNA (cDNA clone IMAGE:40126924), complete cds. BC172438 - Synthetic construct Homo sapiens clone IMAGE:100069132, MGC:199143 spectrin, beta, non-erythrocytic 2 (SPTBN2) mRNA, encodes complete protein. AB464240 - Synthetic construct DNA, clone: pF1KA0302, Homo sapiens SPTBN2 gene for spectrin, beta, non-erythrocytic 2, without stop codon, in Flexi system. AK021479 - Homo sapiens cDNA FLJ11417 fis, clone HEMBA1000960. JD170446 - Sequence 151470 from Patent EP1572962. JD472456 - Sequence 453480 from Patent EP1572962. JD421536 - Sequence 402560 from Patent EP1572962. JD179127 - Sequence 160151 from Patent EP1572962. JD171558 - Sequence 152582 from Patent EP1572962. JD238119 - Sequence 219143 from Patent EP1572962. JD211796 - Sequence 192820 from Patent EP1572962. L13714 - Human scRNA molecule, transcribed from Alu repeat. L13713 - Human scRNA molecule, transcribed from Alu repeat. JD511618 - Sequence 492642 from Patent EP1572962. JD491891 - Sequence 472915 from Patent EP1572962. JD281342 - Sequence 262366 from Patent EP1572962. JD160697 - Sequence 141721 from Patent EP1572962. JD129369 - Sequence 110393 from Patent EP1572962. JD056257 - Sequence 37281 from Patent EP1572962. JD368623 - Sequence 349647 from Patent EP1572962. JD248103 - Sequence 229127 from Patent EP1572962. JD138998 - Sequence 120022 from Patent EP1572962. JD354412 - Sequence 335436 from Patent EP1572962. JD498666 - Sequence 479690 from Patent EP1572962. JD458000 - Sequence 439024 from Patent EP1572962. JD124808 - Sequence 105832 from Patent EP1572962. JD215091 - Sequence 196115 from Patent EP1572962. JD402732 - Sequence 383756 from Patent EP1572962. JD483236 - Sequence 464260 from Patent EP1572962. JD139226 - Sequence 120250 from Patent EP1572962. JD122486 - Sequence 103510 from Patent EP1572962. JD041482 - Sequence 22506 from Patent EP1572962. JD133506 - Sequence 114530 from Patent EP1572962. BC131819 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 9B, mRNA (cDNA clone IMAGE:40123065). DL492127 - Novel nucleic acids. BC122522 - Homo sapiens hypothetical protein MGC23284, mRNA (cDNA clone IMAGE:40022172). AF079569 - Homo sapiens beta III spectrin (SPTBN2) mRNA, partial cds. JD068549 - Sequence 49573 from Patent EP1572962. JD049690 - Sequence 30714 from Patent EP1572962. JD381515 - Sequence 362539 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O15020 (Reactome details) participates in the following event(s):
R-HSA-391868 Dephosphorylation of NCAM1 bound pFyn R-NUL-420388 Dephosphorylation of NCAM1 bound pFyn R-HSA-391865 Recruitment of FAK to NCAM1:Fyn in lipid rafts R-HSA-391871 Autophosphorylation of NCAM1 bound Fyn R-HSA-392751 L1 linked to actin cytoskeleton by ankyrin R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex R-NUL-420398 Autophosphorylation of NCAM1 bound Fyn R-HSA-391866 Phosphorylation of FAK by Src kinase R-HSA-392051 Recruitment of Grb2 to pFAK:NCAM1 R-HSA-392053 SOS binds Grb2 bound to pFAK:NCAM1 R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1 R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-392054 NCAM1:pFAK:Grb2:Sos-mediated nucleotide exchange of Ras R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange R-HSA-2132295 MHC class II antigen presentation R-HSA-1280218 Adaptive Immune System R-HSA-375165 NCAM signaling for neurite out-growth R-HSA-168256 Immune System R-HSA-445095 Interaction between L1 and Ankyrins R-HSA-6807878 COPI-mediated anterograde transport R-HSA-422475 Axon guidance R-HSA-373760 L1CAM interactions R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-1266738 Developmental Biology R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-5673001 RAF/MAP kinase cascade R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-5684996 MAPK1/MAPK3 signaling R-HSA-597592 Post-translational protein modification R-HSA-5683057 MAPK family signaling cascades R-HSA-392499 Metabolism of proteins R-HSA-162582 Signal Transduction
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
