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H.sapiens
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Details of WAS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| WAS | IMD2 | P42768 | WASP_HUMAN | 7454 | ENSG00000267912 ENSG00000015285 | Wiskott-Aldrich syndrome protein | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Wiskott-Aldrich syndrome (WAS) [MIM:301000]: An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. Note=The disease is caused by mutations affecting the gene represented in this entry. | 301000 | Thrombocytopenia 1 (THC1) [MIM:313900]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Note=The disease is caused by mutations affecting the gene represented in this entry. | 313900 | Neutropenia severe congenital X-linked (XLN) [MIM:300299]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300299 | ||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Was | WASp | --- | Sp-Sim_wsk_ald_syn_ph | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|