SPTBN1 Chromosome 2
Spectrin beta, non-erythrocytic 1
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What This Gene Does
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Spectrins"
Locus Type
gene with protein product
Location
2p16.2
Ensembl
ENSG00000115306
Associated Conditions (10)
Developmental delay
impaired speech
and behavioral abnormalities
SPTBN1-related disorder
Neurodevelopmental disorder
Neurodevelopmental delay
Pervasive developmental disorder
Intellectual disability
autosomal recessive 53
Inborn genetic diseases
Key Variants
RS139622861
Conflicting classifications of pathogenicity
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2103938644
Conflicting classifications of pathogenicity
SPTBN1-related disorder, SPTBN1-related disorder
Health Risk
RS2103838550
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2103866400
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2103898844
Likely pathogenic
Health Risk
RS2103942370
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2549468222
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2549502583
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2549506563
Likely pathogenic
Health Risk
RS2549520186
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2549525393
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2549525926
Likely pathogenic
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139622861 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2103938644 | Health Risk | Conflicting classifications of pathogenicity | SPTBN1-related disorder, SPTBN1-related disorder |
| RS2103838550 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2103866400 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2103898844 | Health Risk | Likely pathogenic | — |
| RS2103942370 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549468222 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549502583 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549506563 | Health Risk | Likely pathogenic | — |
| RS2549520186 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549525393 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2549525926 | Health Risk | Likely pathogenic | — |
| RS2549543024 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549551292 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549555672 | Health Risk | Likely pathogenic | — |
| RS2549575000 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS748951777 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS776027586 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS956588950 | Health Risk | Likely pathogenic | — |
| RS1678619347 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2103829011 | Health Risk | Pathogenic | — |
| RS2103829031 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2103838734 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2103842476 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2103866356 | Health Risk | Pathogenic | SPTBN1-related disorder, SPTBN1-related disorder |
| RS2103925559 | Health Risk | Pathogenic | Pervasive developmental disorder, Intellectual disability, autosomal recessive 53 |
| RS2104068395 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2549511876 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549530685 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2549555343 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2549562759 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2549570027 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS756389249 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS748501800 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS765239220 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental delay, impaired speech |