SPTA1 Chromosome 1
Spectrin alpha, erythrocytic 1
Upload your DNA to see your personal genotypes for variants in SPTA1.
What This Gene Does
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"EF-hand domain containing|Spectrins"
Locus Type
gene with protein product
Location
1q23.1
Ensembl
ENSG00000163554
Associated Conditions (25)
Hereditary spherocytosis type 3
Pyropoikilocytosis
hereditary
Elliptocytosis 2
SPTA1-related disorder
Lung cancer
Acute myeloid leukemia
Familial hemolytic anemia
Hemolytic anemia
Intellectual developmental disorder
X-linked 111
Malignant lymphoma
large B-cell
diffuse
Inborn genetic diseases
Thymoma
See cases
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Spherocytosis
Abnormality of blood and blood-forming tissues
+5 more conditions
Key Variants
RS111674514
Conflicting classifications of pathogenicity
Health Risk
RS111834376
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 3, Pyropoikilocytosis, hereditary
Health Risk
RS11265047
Conflicting classifications of pathogenicity
Health Risk
RS112884419
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 3, Pyropoikilocytosis, hereditary
Health Risk
RS115466520
Conflicting classifications of pathogenicity
SPTA1-related disorder, SPTA1-related disorder
Health Risk
RS115877891
Conflicting classifications of pathogenicity
Elliptocytosis 2, Hereditary spherocytosis type 3, Pyropoikilocytosis
Health Risk
RS116297260
Conflicting classifications of pathogenicity
Elliptocytosis 2, Hereditary spherocytosis type 3, Pyropoikilocytosis
Health Risk
RS116466258
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 3, Elliptocytosis 2, Pyropoikilocytosis
Health Risk
RS116959874
Conflicting classifications of pathogenicity
Elliptocytosis 2, Hereditary spherocytosis type 3, Pyropoikilocytosis
Health Risk
RS1170758603
Conflicting classifications of pathogenicity
Health Risk
RS118088187
Conflicting classifications of pathogenicity
Elliptocytosis 2, Hereditary spherocytosis type 3, Pyropoikilocytosis
Health Risk
RS121918636
Conflicting classifications of pathogenicity
Elliptocytosis 2, Elliptocytosis 2
Health Risk
All Variants (348)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781244377 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spherocytosis type 3, Hereditary spherocytosis type 3 |
| RS781270002 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78598639 | Health Risk | Conflicting classifications of pathogenicity | Pyropoikilocytosis, hereditary, Elliptocytosis 2 |
| RS924692638 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS929328527 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS967975662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064795113 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1131691810 | Health Risk | Likely pathogenic | — |
| RS1259016078 | Health Risk | Likely pathogenic | — |
| RS1289506712 | Health Risk | Likely pathogenic | — |
| RS1321670820 | Health Risk | Likely pathogenic | — |
| RS1374378636 | Health Risk | Likely pathogenic | — |
| RS1411236279 | Health Risk | Likely pathogenic | — |
| RS1421295482 | Health Risk | Likely pathogenic | — |
| RS1440123856 | Health Risk | Likely pathogenic | — |
| RS1440718209 | Health Risk | Likely pathogenic | — |
| RS1442688061 | Health Risk | Likely pathogenic | — |
| RS1462060431 | Health Risk | Likely pathogenic | Familial hemolytic anemia, Familial hemolytic anemia |
| RS1553232007 | Health Risk | Likely pathogenic | Hereditary spherocytosis type 3, Hereditary spherocytosis type 3 |
| RS1571436535 | Health Risk | Likely pathogenic | Hemolytic anemia, Hemolytic anemia |
| RS1571530070 | Health Risk | Likely pathogenic | Pyropoikilocytosis, hereditary, Pyropoikilocytosis |
| RS1653728836 | Health Risk | Likely pathogenic | — |
| RS1653872984 | Health Risk | Likely pathogenic | SPTA1-related disorder, SPTA1-related disorder |
| RS1655094479 | Health Risk | Likely pathogenic | — |
| RS199883479 | Health Risk | Likely pathogenic | — |
| RS2101741276 | Health Risk | Likely pathogenic | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS2101760572 | Health Risk | Likely pathogenic | — |
| RS2101819646 | Health Risk | Likely pathogenic | — |
| RS2101829513 | Health Risk | Likely pathogenic | — |
| RS2101837157 | Health Risk | Likely pathogenic | — |
| RS2101868872 | Health Risk | Likely pathogenic | — |
| RS2101892539 | Health Risk | Likely pathogenic | — |
| RS2101900643 | Health Risk | Likely pathogenic | SPTA1-related disorder, SPTA1-related disorder |
| RS2101904247 | Health Risk | Likely pathogenic | — |
| RS2101951549 | Health Risk | Likely pathogenic | — |
| RS2101957676 | Health Risk | Likely pathogenic | — |
| RS2101958311 | Health Risk | Likely pathogenic | — |
| RS2525032431 | Health Risk | Likely pathogenic | — |
| RS2525071082 | Health Risk | Likely pathogenic | SPTA1-related disorder, SPTA1-related disorder |
| RS2525078899 | Health Risk | Likely pathogenic | — |
| RS2525092495 | Health Risk | Likely pathogenic | — |
| RS2525104200 | Health Risk | Likely pathogenic | — |
| RS2525133650 | Health Risk | Likely pathogenic | — |
| RS2525147314 | Health Risk | Likely pathogenic | — |
| RS2525200185 | Health Risk | Likely pathogenic | Hereditary spherocytosis type 3, Hereditary spherocytosis type 3 |
| RS2525200218 | Health Risk | Likely pathogenic | — |
| RS2525254041 | Health Risk | Likely pathogenic | Hereditary spherocytosis type 3, Hereditary spherocytosis type 3 |
| RS2525269468 | Health Risk | Likely pathogenic | — |
| RS2525313520 | Health Risk | Likely pathogenic | — |
| RS2525324652 | Health Risk | Likely pathogenic | — |