SPTBN4 Chromosome 19
Spectrin beta, non-erythrocytic 4
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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 localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. 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
19q13.2
Ensembl
ENSG00000160460
Associated Conditions (5)
Neurodevelopmental disorder with hypotonia
neuropathy
and deafness
Inborn genetic diseases
SPTBN4-related disorder
Key Variants
RS1279770682
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Health Risk
RS138472388
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140466069
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144787579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201387261
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neuropathy
Health Risk
RS370786781
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neuropathy
Health Risk
RS374855722
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Health Risk
RS745817076
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neuropathy
Health Risk
RS1555721549
Likely pathogenic
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Health Risk
RS1599759068
Likely pathogenic
Health Risk
RS1599794560
Likely pathogenic
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Health Risk
RS1599819198
Likely pathogenic
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1279770682 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS138472388 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140466069 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144787579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201387261 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neuropathy |
| RS370786781 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neuropathy |
| RS374855722 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS745817076 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neuropathy |
| RS1555721549 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS1599759068 | Health Risk | Likely pathogenic | — |
| RS1599794560 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS1599819198 | Health Risk | Likely pathogenic | — |
| RS2080404297 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2515027089 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2515039611 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2515176041 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2515228997 | Health Risk | Likely pathogenic | SPTBN4-related disorder, SPTBN4-related disorder |
| RS2515236840 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS370960966 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS1114167445 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS1438895984 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS1555815437 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555818396 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2080274080 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2080278571 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2080330778 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2080505282 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS2080555011 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2080975555 | Health Risk | Pathogenic | — |
| RS2145952062 | Health Risk | Pathogenic | — |
| RS2515217064 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS554043340 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| RS777273785 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |