full name
Wiskott-Aldrich syndrome

synonyms
IMD2, SCNX, THC, THC1, WASP, WAS, ENSG00000015285

HGNC
HGNC:12731

Entrez Gene
Gene:7454

ENSEMBL
ENSG00000015285
ENSG00000267912

location
chr: X
start: 48542186
stop: 48549818
strand: +

OMIM
OMIM:300392: WAS (X-linked recessive inheritance)
OMIM:300299: Neutropenia, severe congenital, X-linked
OMIM:313900: Thrombocytopenia, X-linked
OMIM:313900: Thrombocytopenia, X-linked, intermittent
OMIM:301000: Wiskott-Aldrich syndrome

transcripts
NM_000377.2

pathways
Adaptive Immune System [NCBI:1269171] [REACTOME:R-HSA-1280218] [PUBMED:16551257] [PUBMED:21682741] [PUBMED:11861602]
Adherens junction [NCBI:83070] [KEGG:hsa04520] [PUBMED:11703922] [PUBMED:10890911] [PUBMED:15551862] [PUBMED:15561584] [PUBMED:10959047] [PUBMED:11984870] [PUBMED:10204118] [PUBMED:15489912] [PUBMED:14623871] [PUBMED:15001769] [PUBMED:12640114] [PUBMED:12665527] [PUBMED:11171368]
Bacterial invasion of epithelial cells [NCBI:149807] [KEGG:hsa05100] [PUBMED:17298394] [PUBMED:16406780] [PUBMED:19185531] [PUBMED:19157959] [PUBMED:17719540] [PUBMED:19296488]
Chemokine signaling pathway [NCBI:99051] [KEGG:hsa04062] [PUBMED:17371236] [PUBMED:19159344] [PUBMED:17169327] [PUBMED:10852130] [PUBMED:9765254] [PUBMED:15771581] [PUBMED:14607270] [PUBMED:18662984] [PUBMED:12495636] [PUBMED:15803148] [PUBMED:15046611] [PUBMED:12069927] [PUBMED:18711432] [PUBMED:17675482] [PUBMED:16144840] [PUBMED:17496928] [PUBMED:17537990] [PUBMED:11872087] [PUBMED:12051620] [PUBMED:14625285] [PUBMED:8576262] [PUBMED:11244042]
Choline metabolism in cancer [NCBI:1059539] [KEGG:hsa05231] [PUBMED:23076158] [PUBMED:19264150] [PUBMED:16230400] [PUBMED:23350810] [PUBMED:22429397] [PUBMED:16432178] [PUBMED:19136975] [PUBMED:22089420] [PUBMED:14517341] [PUBMED:22921309] [PUBMED:19855431] [PUBMED:20528734] [PUBMED:19935796] [PUBMED:14523987] [PUBMED:21793073]
Endocytosis [NCBI:102279] [KEGG:hsa04144] [PUBMED:19696797] [PUBMED:19007773] [PUBMED:16203612] [PUBMED:15687999] [PUBMED:19924646] [PUBMED:15261671] [PUBMED:18647649] [PUBMED:19325624] [PUBMED:20110990] [PUBMED:22193161]
Fc gamma R-mediated phagocytosis [NCBI:114228] [KEGG:hsa04666] [PUBMED:11304556] [PUBMED:11244038] [PUBMED:10755615] [PUBMED:17308335] [PUBMED:12821647] [PUBMED:15466916] [PUBMED:17050193] [PUBMED:11228151] [PUBMED:12488490] [PUBMED:10224668] [PUBMED:11708889] [PUBMED:9581795] [PUBMED:10586078] [PUBMED:9417101] [PUBMED:15485887] [PUBMED:18322649] [PUBMED:10577498] [PUBMED:10376013] [PUBMED:10601359] [PUBMED:9545263]
Fcgamma receptor (FCGR) dependent phagocytosis [NCBI:1269279] [REACTOME:R-HSA-2029480] [PUBMED:8541526] [PUBMED:12488490] [PUBMED:16413920] [PUBMED:17050193]
Generation of second messenger molecules [NCBI:1269175] [REACTOME:R-HSA-202433] [PUBMED:15084594]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Pathogenic Escherichia coli infection [NCBI:83103] [KEGG:hsa05130] [PUBMED:15318166] [PUBMED:15845459] [PUBMED:19144561] [PUBMED:15694854] [PUBMED:12101285] [PUBMED:15618137] [PUBMED:16582930] [PUBMED:15040260] [PUBMED:16448495]
RHO GTPase Effectors [NCBI:1269509] [REACTOME:R-HSA-195258] [PUBMED:9694656] [PUBMED:18066052] [PUBMED:11018042] [PUBMED:10470034] [PUBMED:8702756] [PUBMED:21730051] [PUBMED:8571126] [PUBMED:19513348] [PUBMED:17244649] [PUBMED:11145705] [PUBMED:24128008] [PUBMED:23716662] [PUBMED:8617235] [PUBMED:8543060] [PUBMED:11804587] [PUBMED:24969695] [PUBMED:12635176] [PUBMED:12778124] [PUBMED:18006505] [PUBMED:1660188] [PUBMED:21351730] [PUBMED:16507994] [PUBMED:14595335] [PUBMED:10072071] [PUBMED:10591629] [PUBMED:10753910] [PUBMED:23875749] [PUBMED:17151359] [PUBMED:10652353] [PUBMED:12221077] [PUBMED:10559936] [PUBMED:12783890] [PUBMED:11948177] [PUBMED:18237546] [PUBMED:16079795] [PUBMED:10924361] [PUBMED:14514689] [PUBMED:8107774] [PUBMED:8756646] [PUBMED:16979770] [PUBMED:16636067] [PUBMED:9751706] [PUBMED:10619026] [PUBMED:23444367] [PUBMED:15546864] [PUBMED:12473120] [PUBMED:8816443] [PUBMED:9199170] [PUBMED:12514133] [PUBMED:16762923] [PUBMED:12110184] [PUBMED:16431929] [PUBMED:10975528] [PUBMED:10940294] [PUBMED:9535855] [PUBMED:7559638] [PUBMED:11162552] [PUBMED:19737400] [PUBMED:9988689] [PUBMED:12732141] [PUBMED:8798539] [PUBMED:24914801] [PUBMED:11689693] [PUBMED:8769096] [PUBMED:9368021]
RHO GTPases Activate WASPs and WAVEs [NCBI:1269518] [REACTOME:R-HSA-5663213] [PUBMED:24969695]
Regulation of actin cytoskeleton [NCBI:83089] [KEGG:hsa04810] [PUBMED:11152757] [PUBMED:11082272] [PUBMED:10574699] [PUBMED:11082269] [PUBMED:14657486] [PUBMED:14744429] [PUBMED:12700767]
Regulation of actin dynamics for phagocytic cup formation [NCBI:1269281] [REACTOME:R-HSA-2029482] [PUBMED:17477841] [PUBMED:15452139] [PUBMED:15981459]
Salmonella infection [NCBI:375172] [KEGG:hsa05132] [PUBMED:18407067] [PUBMED:18411289] [PUBMED:18778407] [PUBMED:20123714] [PUBMED:20158475] [PUBMED:19779561] [PUBMED:18026123] [PUBMED:19930040] [PUBMED:12675800] [PUBMED:11755407] [PUBMED:11489966] [PUBMED:19775254] [PUBMED:20943123] [PUBMED:17690885] [PUBMED:16938850] [PUBMED:20526845] [PUBMED:11567004] [PUBMED:17074883] [PUBMED:11825778] [PUBMED:17071592] [PUBMED:16800847] [PUBMED:16611232] [PUBMED:10499590]
Shigellosis [NCBI:83104] [KEGG:hsa05131] [PUBMED:11379633] [PUBMED:10491394] [PUBMED:17173036] [PUBMED:18202440] [PUBMED:17095701] [PUBMED:16622194] [PUBMED:16413487] [PUBMED:18005683] [PUBMED:15731041] [PUBMED:15073367] [PUBMED:12856283] [PUBMED:16939534] [PUBMED:17060328] [PUBMED:12065406] [PUBMED:8376337] [PUBMED:11207560] [PUBMED:8642302] [PUBMED:12356723] [PUBMED:15694852] [PUBMED:10369666] [PUBMED:14638419] [PUBMED:16441429] [PUBMED:16162672] [PUBMED:17719540] [PUBMED:7665485] [PUBMED:18059288] [PUBMED:18005697] [PUBMED:19165331] [PUBMED:12828640] [PUBMED:17662586] [PUBMED:9176079] [PUBMED:7591128] [PUBMED:15318166] [PUBMED:15950937]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Rho GTPases [NCBI:1269507] [REACTOME:R-HSA-194315] [PUBMED:16212495] [PUBMED:15630019]
TCR signaling [NCBI:1269172] [REACTOME:R-HSA-202403] [PUBMED:10375551] [PUBMED:12876557] [PUBMED:9989491]
TCR signaling in naive CD4+ T cells [NCBI:137998] [Pathway Interaction Database:tcr_pathway] [PUBMED:11376344] [PUBMED:9094314] [PUBMED:8083187] [PUBMED:11994416] [PUBMED:16365455] [PUBMED:10072079] [PUBMED:12361955] [PUBMED:12755691] [PUBMED:8642247] [PUBMED:15125833] [PUBMED:7509360] [PUBMED:11353765] [PUBMED:12941616] [PUBMED:8700169] [PUBMED:11120819] [PUBMED:15899849] [PUBMED:8990121] [PUBMED:8702662] [PUBMED:8164687] [PUBMED:2141684] [PUBMED:11567141] [PUBMED:9846481] [PUBMED:9489702] [PUBMED:10811803] [PUBMED:11368773] [PUBMED:14557276] [PUBMED:2548204] [PUBMED:10318843] [PUBMED:15536066] [PUBMED:10652356] [PUBMED:7568038] [PUBMED:11175263] [PUBMED:9438848] [PUBMED:9692882] [PUBMED:10209031] [PUBMED:7509083] [PUBMED:12874226] [PUBMED:8673706] [PUBMED:16733527] [PUBMED:9822663] [PUBMED:12738795] [PUBMED:11904433] [PUBMED:8084588] [PUBMED:8114715] [PUBMED:9312162] [PUBMED:8790380] [PUBMED:9677202] [PUBMED:15802604] [PUBMED:14702343] [PUBMED:10903746] [PUBMED:10807788] [PUBMED:8176201] [PUBMED:9207119] [PUBMED:10790433] [PUBMED:8892604] [PUBMED:9665884] [PUBMED:1639064] [PUBMED:12421919] [PUBMED:8246987] [PUBMED:9710204] [PUBMED:8146197] [PUBMED:2190221] [PUBMED:10229072] [PUBMED:10021361] [PUBMED:9924026] [PUBMED:12186560] [PUBMED:16649996] [PUBMED:11287959] [PUBMED:12917261] [PUBMED:7545666] [PUBMED:11250890] [PUBMED:12842872] [PUBMED:15879121] [PUBMED:11567140] [PUBMED:10209041] [PUBMED:10556826] [PUBMED:8183372] [PUBMED:12397360] [PUBMED:10506192] [PUBMED:10861059] [PUBMED:12507424] [PUBMED:12845325] [PUBMED:10745081] [PUBMED:8195151] [PUBMED:12024036] [PUBMED:7524075] [PUBMED:1464315] [PUBMED:12138205] [PUBMED:7544353] [PUBMED:16906149] [PUBMED:9637919] [PUBMED:2470098] [PUBMED:3919143] [PUBMED:16005298] [PUBMED:10918068] [PUBMED:8636141] [PUBMED:16921383] [PUBMED:8479536] [PUBMED:7556092] [PUBMED:16582901] [PUBMED:8805223] [PUBMED:15933714] [PUBMED:10224278] [PUBMED:9819387] [PUBMED:12881521] [PUBMED:14988727] [PUBMED:16849481] [PUBMED:11390650]
Tight junction [NCBI:83071] [KEGG:hsa04530] [PUBMED:25152334] [PUBMED:16650994] [PUBMED:22892070] [PUBMED:18946474] [PUBMED:12042308] [PUBMED:23885123] [PUBMED:16771626] [PUBMED:17182900] [PUBMED:21283798] [PUBMED:25757376] [PUBMED:22928510] [PUBMED:22169974] [PUBMED:25469537] [PUBMED:24651541] [PUBMED:15820555] [PUBMED:17525755] [PUBMED:27353478] [PUBMED:17950242] [PUBMED:18005931] [PUBMED:24548561] [PUBMED:21781017] [PUBMED:20094051] [PUBMED:20134025] [PUBMED:22896795] [PUBMED:18094055] [PUBMED:25483301]