| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7454 |
Name | WAS |
Synonym | IMD2|SCNX|THC|THC1|WASP;Wiskott-Aldrich syndrome (eczema-thrombocytopenia);WAS;Wiskott-Aldrich syndrome (eczema-thrombocytopenia) |
Definition | thrombocytopenia 1 (X-linked)|wiskott-Aldrich syndrome protein |
Position | Xp11.4-p11.21 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Bacterial invasion of epithelial cells;KEGG PATHWAY;hsa05100 |
Pathway | Pathogenic Escherichia coli infection;KEGG PATHWAY;hsa05130 |
Pathway | Fc gamma R-mediated phagocytosis;KEGG PATHWAY;hsa04666 |
Pathway | TCR signaling in naive CD4+ T cells;PID Curated;200022 |
Pathway | Adherens junction;KEGG PATHWAY;hsa04520 |
Pathway | Regulation of actin cytoskeleton;KEGG PATHWAY;hsa04810 |
Pathway | Signaling in Immune system;Reactome;REACT:6900 |
Pathway | Chemokine signaling pathway;KEGG PATHWAY;hsa04062 |
Pathway | T cell activation;PANTHER;P00053 |
Pathway | Shigellosis;KEGG PATHWAY;hsa05131 |
Pathway | Generation of second messenger molecules;PID Reactome;500481 |
Disease | Other well-defined immunodeficiency syndromes;KEGG DISEASE;H00107 |
Disease | Neutropenia, severe congenital, X-linked;OMIM |
Disease | Thrombocytopenia;FunDO |
Disease | Thrombocytopenia, X-linked;OMIM |
Disease | Immune system diseases;KEGG DISEASE |
Disease | X-linked thrombocytopenia;GAD |
Disease | Wiskott-Aldrich syndrome;OMIM |
Disease | Disseminated cancer;FunDO |
Disease | Wiskott-Aldrich syndrome;FunDO |
Disease | Primary immunodeficiency;KEGG DISEASE |
Disease | Neutropenic disorders;KEGG DISEASE;H00100 |
Disease | Thrombocytopenia, X-linked, intermittent;OMIM |
External Links | |
Links to Entrez Gene | 7454 |
Links to all GeneRIF Items | 7454 |
Links to iHOP | 7454 |
Sequence Information | |
Nucleotide Sequence | >7454 : length: 1509 atgagtgggggcccaatgggaggaaggcccgggggccgaggagcaccagcggttcagcag aacataccctccaccctcctccaggaccacgagaaccagcgactctttgagatgcttgga cgaaaatgcttgacgctggccactgcagttgttcagctgtacctggcgctgccccctgga gctgagcactggaccaaggagcattgtggggctgtgtgcttcgtgaaggataacccccag aagtcctacttcatccgcctttacggccttcaggctggtcggctgctctgggaacaggag ctgtactcacagcttgtctactccacccccacccccttcttccacaccttcgctggagat gactgccaagcggggctgaactttgcagacgaggacgaggcccaggccttccgggccctc gtgcaggagaagatacaaaaaaggaatcagaggcaaagtggagacagacgccagctaccc ccaccaccaacaccagccaatgaagagagaagaggagggctcccacccctgcccctgcat ccaggtggagaccaaggaggccctccagtgggtccgctctccctggggctggcgacagtg gacatccagaaccctgacatcacgagttcacgataccgtgggctcccagcacctggacct agcccagctgataagaaacgctcagggaagaagaagatcagcaaagctgatattggtgca cccagtggattcaagcatgtcagccacgtggggtgggacccccagaatggatttgacgtg aacaacctcgacccagatctgcggagtctgttctccagggcaggaatcagcgaggcccag ctcaccgacgccgagacctctaaacttatctacgacttcattgaggaccagggtgggctg gaggctgtgcggcaggagatgaggcgccaggagccacttccgccgcccccaccgccatct cgaggagggaaccagctcccccggccccctattgtggggggtaacaagggtcgttctggt ccactgccccctgtacctttggggattgccccacccccaccaacaccccggggaccccca cccccaggccgagggggccctccaccaccaccccctccagctactggacgttctggacca ctgccccctccaccccctggagctggtgggccacccatgccaccaccaccgccaccaccg ccaccgccgcccagctccgggaatggaccagcccctcccccactccctcctgctctggtg cctgccgggggcctggcccctggtgggggtcggggagcgcttttggatcaaatccggcag ggaattcagctgaacaagacccctggggccccagagagctcagcgctgcagccaccacct cagagctcagagggactggtgggggccctgatgcacgtgatgcagaagagaagcagagcc atccactcctccgacgaaggggaggaccaggctggcgatgaagatgaagatgatgaatgg gatgactga |
Protein Sequence | >7454 : length: 502 MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD DCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA IHSSDEGEDQAGDEDEDDEWDD |