SPTBN2
spectrin beta, non-erythrocytic 2
Summary
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. [provided by RefSeq, Dec 2009]
Known Variants992 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs539068045 | 11:66,452,796 | A/G | — | likely benign |
| rs11828658 | 11:66,452,978 | G/A | — | likely benign |
| rs554283435 | 11:66,453,221 | T/C | — | uncertain significance |
| rs572522164 | 11:66,453,271 | C/T | — | uncertain significance |
| rs566929715 | 11:66,453,281 | C/T | — | uncertain significance |
| rs1404708285 | 11:66,453,364 | C/T | — | uncertain significance |
| rs866945292 | 11:66,453,395 | C/T | — | conflicting classifications of pathogenicity |
| rs1213201129 | 11:66,453,396 | G/A | — | likely benign |
| rs145522851 | 11:66,453,406 | C/T | missense variant | pathogenic |
| rs1940076270 | 11:66,453,412 | A/G | — | uncertain significance |
| rs1940076802 | 11:66,453,419 | G/A | — | uncertain significance |
| rs775734881 | 11:66,453,425 | C/T | — | conflicting classifications of pathogenicity |
| rs764264434 | 11:66,453,431 | C/T | — | conflicting classifications of pathogenicity |
| rs200262256 | 11:66,453,432 | G/A | — | likely benign |
| rs368166748 | 11:66,453,435 | G/A | — | likely benign |
| rs754605882 | 11:66,453,447 | G/A | — | likely benign |
| rs557734046 | 11:66,453,450 | C/T | — | conflicting classifications of pathogenicity |
| rs367554726 | 11:66,453,463 | C/T | — | benign |
| rs753896989 | 11:66,453,464 | G/A | — | uncertain significance |
| rs776892864 | 11:66,453,475 | C/T | — | conflicting classifications of pathogenicity |
| rs746195427 | 11:66,453,476 | G/A | — | conflicting classifications of pathogenicity |
| rs770261235 | 11:66,453,481 | G/T | — | likely benign |
| rs148840695 | 11:66,453,485 | T/G | — | uncertain significance |
| rs61741217 | 11:66,453,495 | C/T | — | likely benign |
| rs765015336 | 11:66,453,509 | C/T | — | uncertain significance |
| rs752406774 | 11:66,453,514 | G/A | — | uncertain significance |
| rs372297351 | 11:66,453,525 | C/T | — | likely benign |
| rs777270558 | 11:66,453,526 | G/A | — | uncertain significance |
| rs886090164 | 11:66,453,535 | A/G | — | uncertain significance |
| rs757727990 | 11:66,453,553 | C/T | — | uncertain significance |
| rs780506142 | 11:66,453,562 | G/A | — | conflicting classifications of pathogenicity |
| rs148344758 | 11:66,453,565 | C/G | — | uncertain significance |
| rs551276248 | 11:66,453,586 | A/G | — | conflicting classifications of pathogenicity |
| rs189152678 | 11:66,453,589 | G/T | — | likely benign |
| rs749226138 | 11:66,453,879 | G/A | — | conflicting classifications of pathogenicity |
| rs774217655 | 11:66,453,902 | A/G | — | likely benign |
| rs1262014282 | 11:66,453,915 | T/C | — | uncertain significance |
| rs2495722362 | 11:66,453,917 | G/T | — | uncertain significance |
| rs78894466 | 11:66,454,000 | A/G | — | benign |
| rs141969559 | 11:66,454,454 | C/T | — | likely benign |
| rs766981787 | 11:66,454,471 | T/G | — | uncertain significance |
| rs1211978757 | 11:66,454,486 | C/T | — | likely benign |
| rs2495741487 | 11:66,454,487 | G/A | — | uncertain significance |
| rs769316991 | 11:66,454,493 | G/A | — | uncertain significance |
| rs368541668 | 11:66,454,535 | C/T | — | benign |
| rs545082298 | 11:66,454,548 | G/A | — | likely benign |
| rs767774651 | 11:66,454,558 | A/G | — | uncertain significance |
| rs750623875 | 11:66,454,559 | C/T | — | conflicting classifications of pathogenicity |
| rs140748364 | 11:66,454,563 | C/T | — | likely benign |
| rs145891813 | 11:66,454,564 | G/A | — | conflicting classifications of pathogenicity |
| rs138457770 | 11:66,454,565 | C/T | — | likely benign |
| rs2495744276 | 11:66,454,586 | T/C | — | uncertain significance |
| rs112384228 | 11:66,454,595 | C/T | — | conflicting classifications of pathogenicity |
| rs142769916 | 11:66,454,596 | G/A | — | likely benign |
| rs201670045 | 11:66,454,604 | C/T | — | uncertain significance |
| rs529514462 | 11:66,454,606 | C/T | — | conflicting classifications of pathogenicity |
| rs775007929 | 11:66,454,607 | G/A | — | conflicting classifications of pathogenicity |
| rs763398880 | 11:66,454,609 | C/T | — | conflicting classifications of pathogenicity |
| rs150607879 | 11:66,454,610 | G/A | — | conflicting classifications of pathogenicity |
| rs774816936 | 11:66,454,616 | C/T | — | uncertain significance |
| rs201138924 | 11:66,454,622 | A/G | — | conflicting classifications of pathogenicity |
| rs369469000 | 11:66,454,625 | C/T | — | uncertain significance |
| rs750664912 | 11:66,454,626 | G/A | — | conflicting classifications of pathogenicity |
| rs766376475 | 11:66,454,642 | C/T | — | likely benign |
| rs537586567 | 11:66,454,643 | G/A | — | likely benign |
| rs758435668 | 11:66,454,649 | C/T | — | uncertain significance |
| rs372725299 | 11:66,454,651 | C/T | — | likely benign |
| rs186232313 | 11:66,454,652 | G/A | — | benign |
| rs2495756478 | 11:66,454,897 | C/A | — | pathogenic |
| rs754536144 | 11:66,454,900 | G/A | — | uncertain significance |
| rs772594172 | 11:66,454,917 | C/T | — | conflicting classifications of pathogenicity |
| rs773474294 | 11:66,454,918 | G/A | — | benign |
| rs1940196069 | 11:66,454,932 | C/G | — | uncertain significance |
| rs370257588 | 11:66,454,940 | C/T | — | uncertain significance |
| rs1057524207 | 11:66,454,941 | G/A | — | uncertain significance |
| rs771173545 | 11:66,454,945 | C/T | — | likely benign |
| rs886048545 | 11:66,454,946 | A/G | — | uncertain significance |
| rs1940198051 | 11:66,454,949 | A/T | — | uncertain significance |
| rs138819654 | 11:66,454,951 | C/T | — | likely benign |
| rs1940199297 | 11:66,454,963 | C/T | — | uncertain significance |
| rs2495759075 | 11:66,454,965 | C/G | — | uncertain significance |
| rs1425905434 | 11:66,454,970 | G/A | — | uncertain significance |
| rs373673230 | 11:66,454,978 | C/T | — | likely benign |
| rs753498663 | 11:66,454,993 | C/T | — | benign |
| rs754554600 | 11:66,454,994 | G/A | — | uncertain significance |
| rs1311464400 | 11:66,455,000 | G/A | — | uncertain significance |
| rs1256781556 | 11:66,455,019 | C/T | — | uncertain significance |
| rs368974603 | 11:66,455,020 | G/A | — | likely benign |
| rs778388054 | 11:66,455,029 | G/A | — | uncertain significance |
| rs2135301519 | 11:66,455,040 | T/C | — | uncertain significance |
| rs199880827 | 11:66,455,048 | G/A | — | conflicting classifications of pathogenicity |
| rs919248019 | 11:66,455,053 | C/T | — | conflicting classifications of pathogenicity |
| rs376249009 | 11:66,455,054 | G/A | — | uncertain significance |
| rs200876976 | 11:66,455,058 | C/T | — | conflicting classifications of pathogenicity |
| rs765660173 | 11:66,455,067 | G/A | — | uncertain significance |
| rs760467359 | 11:66,455,073 | G/C | — | uncertain significance |
| rs893992697 | 11:66,455,077 | C/G | — | likely benign |
| rs186129774 | 11:66,455,079 | C/T | — | likely benign |
| rs759206588 | 11:66,455,084 | C/T | — | conflicting classifications of pathogenicity |
| rs764921928 | 11:66,455,085 | G/A | — | conflicting classifications of pathogenicity |
Showing 100 of 992 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.