SPTBN2 Chromosome 11
Spectrin beta, non-erythrocytic 2
Upload your DNA to see your personal genotypes for variants in SPTBN2.
What This Gene Does
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]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Spectrins"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000173898
Associated Conditions (10)
Inborn genetic diseases
SPTBN2-related disorder
Autosomal recessive spinocerebellar ataxia 14
Spinocerebellar ataxia type 5
Acute myeloid leukemia
Uterine carcinosarcoma
Cervical cancer
See cases
Intellectual disability
Cerebellar ataxia
Key Variants
RS1036146396
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112384228
Conflicting classifications of pathogenicity
Health Risk
RS116099040
Conflicting classifications of pathogenicity
Inborn genetic diseases, SPTBN2-related disorder, Inborn genetic diseases
Health Risk
RS1207850001
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
Health Risk
RS1328577241
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1371679359
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 5, Acute myeloid leukemia, Spinocerebellar ataxia type 5
Health Risk
RS1380619480
Conflicting classifications of pathogenicity
Health Risk
RS138526888
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138735919
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
Health Risk
RS139077453
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140000699
Conflicting classifications of pathogenicity
Inborn genetic diseases, SPTBN2-related disorder, Inborn genetic diseases
Health Risk
RS140585577
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (201)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS866945292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 14, Inborn genetic diseases |
| RS890981545 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS919248019 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057524761 | Health Risk | Likely pathogenic | — |
| RS1064795665 | Health Risk | Likely pathogenic | — |
| RS1085307915 | Health Risk | Likely pathogenic | — |
| RS1195128790 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS1450514987 | Health Risk | Likely pathogenic | — |
| RS1554986345 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1554987311 | Health Risk | Likely pathogenic | — |
| RS1590955348 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1940361841 | Health Risk | Likely pathogenic | — |
| RS1940772032 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1941829953 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS2135319250 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS2135491492 | Health Risk | Likely pathogenic | — |
| RS2135526204 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS2495946863 | Health Risk | Likely pathogenic | — |
| RS2496264014 | Health Risk | Likely pathogenic | — |
| RS2496277115 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS373270554 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS541484241 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS786205617 | Health Risk | Likely pathogenic | — |
| RS797046005 | Health Risk | Likely pathogenic | — |
| RS797046006 | Health Risk | Likely pathogenic | Cerebellar ataxia, Cerebellar ataxia |
| RS875989881 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1166383301 | Health Risk | Pathogenic | — |
| RS1188527089 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121918306 | Health Risk | Pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1318256630 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS146859515 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS151331478 | Health Risk | Pathogenic | — |
| RS1554985851 | Health Risk | Pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1941485201 | Health Risk | Pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1941714443 | Health Risk | Pathogenic | — |
| RS2135342205 | Health Risk | Pathogenic | — |
| RS2135467951 | Health Risk | Pathogenic | — |
| RS2135558909 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS2495756478 | Health Risk | Pathogenic | — |
| RS2495860648 | Health Risk | Pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS2495955585 | Health Risk | Pathogenic | — |
| RS2496159720 | Health Risk | Pathogenic | — |
| RS2496578406 | Health Risk | Pathogenic | — |
| RS373728971 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS374457871 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS769987150 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554986337 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1590911156 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS1941669517 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS2495858678 | Health Risk | Pathogenic/Likely pathogenic | — |