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Details of SEC23B gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SEC23B | --- | Q15437 | SC23B_HUMAN | 10483 | ENSG00000101310 | Protein transport protein Sec23B | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Congenital dyserythropoietic anemia 2 (CDA2) [MIM:224100]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. Note=The disease is caused by mutations affecting the gene represented in this entry. | 224100 | ||||||||
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of cell physiology, Abnormality of chromosome segregation, Abnormality of erythrocytes, Abnormality of glycoprotein metabolism, Abnormality of metabolism/homeostasis, Abnormality of reticulocytes, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the gallbladder, Abnormality of the immune system, Abnormality of the integument, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the skin, Abnormality of the spleen, All, Anemia, Anemia of inadequate production, Autosomal recessive inheritance, Cholelithiasis, Cholestasis, Dermatological manifestations of systemic disorders, Endopolyploidy on chromosome studies of bone marrow, Generalized abnormality of skin, Jaundice, Mode of inheritance, Phenotypic abnormality, Reduced activity of N-acetylglucosaminyltransferase II, Reticulocytosis, Splenomegaly, Visceromegaly.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Sec23b | sec23 | sec-23 | Sp-Sec23a | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SEC24D | SEC23B | 1 | SEC24D | SEC23B | cpx114 | no | no | no | Novel |
| SEC23A | SEC23B | 1 | SEC23A | SEC23B | cpx114 | no | no | no | Novel |
| SEC24C | SEC23B | 1 | SEC24C | SEC23B | cpx114 | no | yes | no | Known |
| SEC23B | SEC24A | 1 | SEC23B | SEC24A | cpx114 | no | yes | yes | Known |
| SEC23B | SEC24B | 0.988551611 | SEC23B | SEC24B | cpx114 | no | yes | yes | Known |