SPTB Chromosome 14
Spectrin beta, erythrocytic
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What This Gene Does
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Spectrins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
14q23.3
Ensembl
ENSG00000070182
Associated Conditions (19)
Hereditary spherocytosis type 2
Inborn genetic diseases
SPTB-related disorder
ANEMIA
PERINATAL HEMOLYTIC
FATAL OR NEAR-FATAL
Elliptocytosis 3
Hereditary spherocytosis type 3
Familial cancer of breast
Uterine corpus endometrial carcinoma
Familial hemolytic anemia
Ovarian serous cystadenocarcinoma
Hereditary spherocytosis
Pyropoikilocytosis
hereditary
Hemolytic anemia
See cases
Anemia
Chudley-McCullough syndrome
Key Variants
RS1037576854
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
Health Risk
RS112462309
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113139501
Conflicting classifications of pathogenicity
Health Risk
RS114513294
Conflicting classifications of pathogenicity
SPTB-related disorder, SPTB-related disorder
Health Risk
RS121918649
Conflicting classifications of pathogenicity
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
Health Risk
RS1225539653
Conflicting classifications of pathogenicity
Health Risk
RS12435635
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
Health Risk
RS138039383
Conflicting classifications of pathogenicity
Health Risk
RS138279396
Conflicting classifications of pathogenicity
Health Risk
RS138437526
Conflicting classifications of pathogenicity
Elliptocytosis 3, Elliptocytosis 3
Health Risk
RS139446085
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140141633
Conflicting classifications of pathogenicity
Elliptocytosis 3, Elliptocytosis 3
Health Risk
All Variants (378)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2082573854 | Health Risk | Pathogenic/Likely pathogenic | SPTB-related disorder, SPTB-related disorder |
| RS2082714521 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2139480757 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2139530114 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2139546760 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2139555500 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS2139594261 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS2139606980 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503042184 | Health Risk | Pathogenic/Likely pathogenic | SPTB-related disorder, SPTB-related disorder |
| RS2503060526 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS2503087933 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503090652 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS2503120102 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503123019 | Health Risk | Pathogenic/Likely pathogenic | SPTB-related disorder, SPTB-related disorder |
| RS2503126931 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503150240 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS2503157059 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503162520 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503163092 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503174606 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503180293 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503188605 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2503219666 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS2503220523 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS757425728 | Health Risk | Pathogenic/Likely pathogenic | Elliptocytosis 3, Hereditary spherocytosis type 2, Elliptocytosis 3 |
| RS757836263 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Chudley-McCullough syndrome, Hereditary spherocytosis type 2 |
| RS760938057 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |
| RS766122956 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 2, Hereditary spherocytosis type 2 |