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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for WAS (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 7454 Official gene symbol WAS Full name Wiskott-Aldrich syndrome (eczema-thrombocytopenia) Aliases ,IMD2,THC,THC1,WASP, Gene summary The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq] Location Chromosome: X   Locus: Xp11.4-p11.21 Gene position 48542186 - 48549818  Map Viewer Gene orientation plus Gene size 7633 bp Gene sequence >WAS:11393930..11401562:Length=7633 TCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATG AGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAAC ATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGA AAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTT CCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCC TCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCC TTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAG GTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTC TCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAG CACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCC TACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGC CAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCA GACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTG ACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCC CCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACT GTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTC TCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAAC AAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCA CAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTT CTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAA ATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATC AAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTT TAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCA ACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCA TGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATT CAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGT GTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTG AGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCC CAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTAC ACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTC CACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGG GCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGA CCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCC AGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAG GTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAAC TAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAG CTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAAT AAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTC CCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGT GCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGG AGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGAC GAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTG AGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATG GGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTG AATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGA TTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGA ATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTG GGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCA TCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGG TTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCC GCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATA CCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAA GATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGG ACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAA GGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGT AGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGA GGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACT TAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGT TAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGA TGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGG ATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGG ATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGA TTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGAT ACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAG AAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGG ACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGAT AGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAG GTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAA ACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCA TTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTA TGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCA TGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTC TTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCA GATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCC ATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGG CAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAG GCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGT GGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCT CCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATG GGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGA GCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCA CAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCC CTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTG CCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCAC CACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTG GGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGAC CAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGG GTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAG GCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGG GGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAA AGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGG GGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTG CAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGA CTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGT GAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAA TCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAA TCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATA ATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAA TGTCATTCCCACATGTTCAGTACTACTAACATCAGCTGGCCGGGCGCGGTGGCTCATGCC TGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAG ACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAG TCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATT GCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCT GGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATAT TATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACAT TAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTC GCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTC CCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGC CACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCT CTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCC GCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACC TAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAA TCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAAT GATTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGC CTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGT CATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATAT TATCACACCTTTGCTAATATTATTTAAATTCACCCTATTATGTGATAAATAGGTTAACAT TAACCCTTTGTTTGACAATATCTCGACTAACCACATTTTTGACAGCATAAACTTCAACTC CAACTAGAACTCAGACCCCAACTATAATCCCTTTCTTGTCCCAAATGGAAACTCTAACTT GCCCTCCTCTAGCATGAGACCTCAGAACCCCAGGGTCCAGTCCTCACCTCCCAGGCCCTA TGAAGCCCCCCACCAACCTCCCAGGGCATCTTATCTTTCTCTTTCCCTCCAGACGAAGGG GAGGACCAGGCTGGCGATGAAGATGAAGATGATGAATGGGATGACTGAGTGGCTGAGTTA CTTGCTGCCCTGTGCTCCTCCCCGCAGGACATGGCTCCCCCTCCACCTGCTCTGTGCCCA CCCTCCACTCTCCTCTTCCAGGCCCCCAACCCCCCATTTCTTCCCCACCAACCCCTCCAA TGCTGTTATCCCTGCCTGGTCCTCACACTCACCCAACAATCCCAAGGCCCTTTTTATACA AAAATTCTCAGTTCTCTTCACTCAAGGATTTTTAAAGAAAAATAAAAGAATTGTCTTTCT GTCTCTCTATAAA OMIM ID 300392